Functions and Regulation of RNA Editing by ADARs

Subject Vocabulary
OpenAlex Topic
Unique ID
https://openalex.org/T12610

Focused ultrasound-mediated APOE4 knockdown in mouse brain

Zheng, K., Tsitsos, F. N., Batts, A. J., Ji, R., Nuriel, T., Konofagou, E. E., & Leong, K. W. (2025). Focused ultrasound‐mediated APOE4 knockdown in mouse brain. Alzheimer’s & Dementia, 21(7). Portico. https://doi.org/10.1002/alz.70464
Authors:
Kaiyuan Zheng
Fotios N Tsitsos
Alec J Batts
Robin Ji
Tal Nuriel
Elisa E Konofagou
Kam W Leong
Affiliated Authors:
Kaiyuan Zheng
Fotios N Tsitsos
Alec J Batts
Robin Ji
Tal Nuriel
Elisa E Konofagou
Kam W Leong
Columbia Affiliation:
Subjects:
Clustered Regularly Interspaced Short Palindromic Repeats and CRISPR-associated proteins (OpenAlex Topic)
Gene Therapy Techniques and Applications (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Apolipoprotein E4 (MeSH)
Gene Knockdown Techniques (MeSH)
Brain (MeSH)
Hippocampus (MeSH)
Gene Editing (MeSH)
Author Keywords:
alzheimer's disease
apoe Ε4
blood–brain barrier opening
crispr-cas9 gene editing
focused ultrasound
apolipoprotein e4
apolipoprotein e
adeno associated virus
animal experiment
animal model
animal tissue
article
astrocyte
blood brain barrier
brain
clustered regularly interspaced short palindromic repeat
controlled study
focused ultrasound therapy
gene editing
gene expression
hippocampus
human
human cell
in vitro study
microglia
mouse
nonhuman
animal
c57bl mouse
dependoparvovirus
gene knockdown
gene vector
genetics
metabolism
procedures
animals
blood-brain barrier
dependovirus
gene knockdown techniques
genetic vectors
humans
mice
mice, inbred c57bl
apoe epsilon 4
blood-brain barrier opening
apoe ε4
crispr‐cas9 gene editing
Publication Type:
Article
Unique ID:
10.1002/alz.70464
PMID:
40665471
DOI:
10.1002/alz.70464
Journal:
Alzheimer's and Dementia
Publication Date:
Data Source:
PubMed
Source Link:
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Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss

Twumasi Aboagye, E., Adadey, S. M., Alves de Souza Rios, L., Esoh, K. K., Wonkam-Tingang, E., Xhakaza, L., De Kock, C., Schrauwen, I., Amenga-Etego, L., Lang, D., Awandare, G. A., Leal, S. M., Mowla, S., & Wonkam, A. (2025). Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss. International Journal of Molecular Sciences, 26(7), 3337. https://doi.org/10.3390/ijms26073337
Authors:
Elvis Twumasi Aboagye
Samuel Mawuli Adadey
Leonardo Alves de Souza Rios
Kevin K Esoh
Edmond Wonkam-Tingang
Lettilia Xhakaza
Carmen De Kock
Isabelle Schrauwen
Lucas Amenga-Etego
Dirk Lang
Gordon A Awandare
Suzanne M Leal
Shaheen Mowla
Ambroise Wonkam
Affiliated Authors:
Suzanne M Leal
Columbia Affiliation:
Subjects:
Cochlear Neuropathy and Hearing Loss Mechanisms (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Structure and Function of Gap Junctions and Connexins (OpenAlex Topic)
Hearing Loss (MeSH)
Membrane Proteins (MeSH)
Author Keywords:
africa
consanguinity
ghana
marveld2
non-syndromic hearing loss
whole-exome sequencing
occludin
membrane proteins
protein zo1
tricellulin
membrane protein
actin filament
adolescent
article
audiography
audiology
carboxy terminal sequence
case report
cell membrane
cell structure
child
clinical article
evaluation study
genetic variation
ghanaian
hearing impairment
hek293 cell line
human
human cell
immunocytochemistry
immunofluorescence
in vitro study
male
protein binding
protein expression
protein function
protein localization
protein stability
sanger sequencing
school child
sequence alignment
stop codon
verbal communication
whole exome sequencing
adult
allele
female
frameshift mutation
genetics
pedigree
phenotype
alleles
exome sequencing
hearing loss
humans
Publication Type:
Article
Unique ID:
10.3390/ijms26073337
PMID:
40244166
DOI:
10.3390/ijms26073337
Journal:
International Journal of Molecular Sciences
Publication Date:
Data Source:
PubMed
Source Link:
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Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

Thomas, H. B., Demain, L. A. M., Cabrera-Orefice, A., Schrauwen, I., Shamseldin, H. E., Rea, A., Bharadwaj, T., Smith, T. B., Oláhová, M., Thompson, K., He, L., Kaur, N., Shukla, A., Abukhalid, M., Ansar, M., Rehman, S., Riazuddin, S., Abdulwahab, F., Smith, J. M., … Newman, W. G. (2025). Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2025.02.005
Authors:
Huw B Thomas
Leigh A M Demain
Alfredo Cabrera-Orefice
Isabelle Schrauwen
Hanan E Shamseldin
Alessandro Rea
Thashi Bharadwaj
Thomas B Smith
Monika Oláhová
Kyle Thompson
Langping He
Namanpreet Kaur
Anju Shukla
Musaad Abukhalid
Muhammad Ansar
Sakina Rehman
Saima Riazuddin
Firdous Abdulwahab
Janine M Smith
Zornitza Stark
Hanifenur Mancilar
Sait Tumer
Fatma N Esen
Eyyup Uctepe
Vehap Topcu
Ahmet Yesilyurt
Erum Afzal
Mehri Salari
Christopher Carroll
Giovanni Zifarelli
Peter Bauer
Deniz Kor
Fatma D Bulut
Henry Houlden
Reza Maroofian
Samantha Carrera
Wyatt W Yue
Kevin J Munro
Fowzan S Alkuraya
Peter Jamieson
Zubair M Ahmed
Suzanne M Leal
Robert W Taylor
Ilka Wittig
Raymond T O'Keefe
William G Newman
Affiliated Authors:
Thashi Bharadwaj
Suzanne M Leal
Columbia Affiliation:
Subjects:
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
RNA Methylation and Modification in Gene Expression (OpenAlex Topic)
Ribosome Structure and Translation Mechanisms (OpenAlex Topic)
Author Keywords:
combined oxidative phosphorylation deficiency
learning disability
leukodystrophy
mitochondria
mitoribosome
mrpl49
perrault syndrome
primary ovarian insufficiency
rare disease
sensorineural hearing loss
estradiol
follitropin
luteinizing hormone
mitochondrial proteins
ribosomal proteins
mitochondrial protein
ribosome protein
adolescent
allele
amenorrhea
article
biochemical analysis
birth weight
body height
child
clinical article
clinical feature
developmental delay
disease severity
face dysmorphia
female
gene
gene mapping
genetic association
genetic variability
glucose blood level
head circumference
homozygosity
human
hypergonadotropic hypogonadism
hypoglycemia
intellectual impairment
kyphoscoliosis
learning disorder
loss of function mutation
male
menarche
microcephaly
missense mutation
mrpl49 gene
nuclear magnetic resonance imaging
ovary insufficiency
perception deafness
phenotype
preschool child
retina disease
school child
single nucleotide polymorphism
strabismus
whole exome sequencing
adult
genetics
infant
mutation
oxidative phosphorylation
pathology
pedigree
premature ovarian failure
xx gonadal dysgenesis
alleles
child, preschool
gonadal dysgenesis xx type deafness
gonadal dysgenesis, 46,xx
hearing loss, sensorineural
humans
r sensorineural hearing loss
clinical presentations
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2025.02.005
PMID:
40043708
DOI:
10.1016/j.ajhg.2025.02.005
Journal:
American Journal of Human Genetics
Publication Date:
Data Source:
PubMed
Source Link:
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The effect of polygenic risk score on PD risk and phenotype in LRRK2 G2019S and GBA1 carriers

Goldstein, O., Shani, S., Gana-Weisz, M., Elkoshi, N., Casey, F., Sun, Y. H., Chandratre, K., Cedarbaum, J. M., Blauwendraat, C., Bar-Shira, A., Thaler, A., Gurevich, T., Mirelman, A., Giladi, N., Orr-Urtreger, A., & Alcalay, R. N. (2025). The effect of polygenic risk score on PD risk and phenotype in LRRK2 G2019S and GBA1 carriers. Journal of Parkinson’s Disease. https://doi.org/10.1177/1877718x241310722
Authors:
Orly Goldstein
Shachar Shani
Mali Gana‐Weisz
Nadav Elkoshi
Fergal Casey
Yu Sun
Khyati Chandratre
Jesse M. Cedarbaum
Cornelis Blauwendraat
Anat Bar‐Shira
Avner Thaler
Tanya Gurevich
Anat Mirelman
Nir Giladi
Avi Orr‐Urtreger
Roy N. Alcalay
Affiliated Authors:
Roy N. Alcalay
Columbia Affiliation:
Subjects:
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 (MeSH)
Parkinson Disease (MeSH)
Glucosylceramidase (MeSH)
Genetic Predisposition to Disease (MeSH)
Multifactorial Inheritance (MeSH)
Heterozygote (MeSH)
Phenotype (MeSH)
Pathophysiology of Parkinson's Disease (OpenAlex Topic)
Ginkgo biloba and Cashew Applications (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Author Keywords:
alpha-synuclein
gba1
lrrk2
parkinson's disease
polygenic risk score
glucosylceramidase
gba protein, human
leucine-rich repeat serine-threonine protein kinase-2
lrrk2 protein, human
leucine rich repeat kinase 2
adult
aged
female
genetic predisposition
genetic risk score
genetics
heterozygote
human
jew
male
middle aged
multifactorial inheritance
parkinson disease
phenotype
genetic predisposition to disease
humans
jews
Publication Type:
Article
Unique ID:
10.1177/1877718x241310722
DOI:
10.1177/1877718x241310722
Journal:
Journal of Parkinson's Disease
Publication Date:
Data Source:
OpenAlex
Source Link:
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Sustained hair regrowth with continued ritlecitinib treatment through week 48 in patients with alopecia areata with or without early target responses: Post hoc analysis of the ALLEGRO phase 2b/3 trial

Piliang, M., Lynde, C., King, B., Mirmirani, P., Sinclair, R., Senna, M., Forman, S., Bordone, L., De La Cueva Dobao, P., Wolk, R., Zwillich, S. H., Tran, H., Wajsbrot, D., Ahmed, H. M., & Takiya, L. (2024). Sustained hair regrowth with continued ritlecitinib treatment through week 48 in patients with alopecia areata with or without early target responses: Post hoc analysis of the ALLEGRO phase 2b/3 trial. Journal of the American Academy of Dermatology. https://doi.org/10.1016/j.jaad.2024.09.064
Authors:
Melissa Piliang
Charles Lynde
Brett King
Paradi Mirmirani
Rodney Sinclair
Maryanne Senna
Seth Forman
Lindsey Bordone
Pablo De La Cueva Dobao
Robert Wolk
Samuel H Zwillich
Helen Tran
Dalia Wajsbrot
Haytham Mohamed Ahmed
Liza Takiya
Affiliated Authors:
Lindsey Bordone
Columbia Affiliation:
Subjects:
Regulation and Function of Hair Follicle Stem Cells (OpenAlex Topic)
Wound Healing and Regeneration (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Author Keywords:
alopecia
alopecia areata
clinical research
drug response
hair research
jak3/tec family kinase inhibitor
ritlecitinib
sustained response
adolescent
adult
article
child
controlled study
drug efficacy
drug safety
eyebrow
eyelash
female
hair growth
headache
human
intoxication
loading drug dose
lung embolism
major clinical study
male
post hoc analysis
rhinopharyngitis
scalp
severity of alopecia tool score
skin disease assessment
suicidal behavior
treatment response
upper respiratory tract infection
urticaria
clinical trial
dose response
double blind procedure
drug administration
drug effect
drug therapy
growth, development and aging
hair
middle aged
multicenter study
phase 2 clinical trial
phase 3 clinical trial
randomized controlled trial
severity of illness index
treatment outcome
young adult
dose-response relationship, drug
double-blind method
drug administration schedule
humans
Publication Type:
Article
Unique ID:
10.1016/j.jaad.2024.09.064
PMID:
39423930
DOI:
10.1016/j.jaad.2024.09.064
Journal:
Journal of the American Academy of Dermatology
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created:

Targeting miR-181a/b in retinitis pigmentosa: implications for disease progression and therapy

Costa, B. L. da, Quinn, P. M. J., Wu, W.-H., Liu, S., Nolan, N. D., Demirkol, A., Tsai, Y.-T., Caruso, S. M., Cabral, T., Wang, N.-K., & Tsang, S. H. (2024). Targeting miR-181a/b in retinitis pigmentosa: implications for disease progression and therapy. Cell & Bioscience, 14(1). https://doi.org/10.1186/s13578-024-01243-3
Authors:
Bruna Lopes da Costa
Peter M. J. Quinn
Wen-Hsuan Wu
Siyuan Liu
Nicholas D. Nolan
Aykut Demirkol
Yi‐Ting Tsai
Salvatore Marco Caruso
Thiago Cabral
Nan‐Kai Wang
Stephen H. Tsang
Affiliated Authors:
Bruna Lopes da Costa
Peter M. J. Quinn
Wen-Hsuan Wu
Siyuan Liu
Nicholas D. Nolan
Aykut Demirkol
Yi‐Ting Tsai
Salvatore Marco Caruso
Nan‐Kai Wang
Stephen H. Tsang
Columbia Affiliation:
Subjects:
Mechanisms and Applications of RNA Interference (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
MicroRNA Regulation in Cancer and Development (OpenAlex Topic)
Author Keywords:
aerobic glycolysis
metabolic reprogramming
micrornas
retinal pigment epithelium
retinitis pigmentosa
Grants:
R01EY031354 (NIH – National Eye Institute)
Publication Type:
Article
Unique ID:
10.1186/s13578-024-01243-3
PMID:
38773556
DOI:
10.1186/s13578-024-01243-3
Journal:
Cell and Bioscience
Publication Date:
Data Source:
OpenAlex
Source Link:
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The intrinsic substrate specificity of the human tyrosine kinome

Yaron-Barir, T. M., Joughin, B. A., Huntsman, E. M., Kerelsky, A., Cizin, D. M., Cohen, B. M., Regev, A., Song, J., Vasan, N., Lin, T.-Y., Orozco, J. M., Schoenherr, C., Sagum, C., Bedford, M. T., Wynn, R. M., Tso, S.-C., Chuang, D. T., Li, L., Li, S. S.-C., … Johnson, J. L. (2024). The intrinsic substrate specificity of the human tyrosine kinome. Nature, 629(8014), 1174–1181. https://doi.org/10.1038/s41586-024-07407-y
Authors:
Tomer M. Yaron
Brian A. Joughin
Emily M. Huntsman
Alexander Kerelsky
Daniel M. Cizin
Benjamin M. Cohen
Amit Regev
Junho Song
Neil Vasan
Ting‐Yu Lin
Jose M. Orozco
Christina Schoenherr
Cari A. Sagum
Mark T. Bedford
Richard Wynn
Shih‐Chia Tso
David Chuang
Lei Li
Shawn S.‐C. Li
Pau Creixell
Konstantin Krismer
Mina Takegami
Harin Lee
Bin Zhang
Jingyi Lu
Ian Cossentino
Sean D. Landry
Mohamed Uduman
John Blenis
Olivier Elemento
Margaret C. Frame
Peter Hornbeck
Lewis C. Cantley
Benjamin E. Turk
Michael B. Yaffe
Jared L. Johnson
Affiliated Authors:
Neil Vasan
Columbia Affiliation:
Subjects:
Phosphotyrosine (MeSH)
Protein-Tyrosine Kinases (MeSH)
Substrate Specificity (MeSH)
Tyrosine (MeSH)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Ubiquitin-Proteasome Proteolytic Pathway (OpenAlex Topic)
Glycosylation in Health and Disease (OpenAlex Topic)
Grants:
R35CA197588 (NIH – National Cancer Institute)
P01CA120964 (NIH – National Cancer Institute)
R01CA226898 (NIH – National Cancer Institute)
P01CA117969 (NIH – National Cancer Institute)
R35ES028374 (NIH – National Institute of Environmental Health Sciences)
R01GM135331 (NIH – National Institute of General Medical Sciences)
R01GM104047 (NIH – National Institute of General Medical Sciences)
Publication Type:
Article
Unique ID:
10.1038/s41586-024-07407-y
PMID:
38720073
DOI:
10.1038/s41586-024-07407-y
Journal:
Nature
Publication Date:
Data Source:
OpenAlex
Source Link:
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Small extracellular vesicles (sEVs)-based gene delivery platform for cell-specific CRISPR/Cas9 genome editing

Dubey, S., Chen, Z., Jiang, Y. J., Talis, A., Molotkov, A., Ali, A., Mintz, A., & Momen-Heravi, F. (2024). Small extracellular vesicles (sEVs)-based gene delivery platform for cell-specific CRISPR/Cas9 genome editing. Theranostics, 14(7), 2777–2793. https://doi.org/10.7150/thno.92133
Authors:
Sunil Kumar Dubey
Zhe Chen
Yuxiao Jarvan Jiang
Austin Talis
Andrei Molotkov
Alessandra Alì
Akiva Mintz
Fatemeh Momen‐Heravi
Affiliated Authors:
Sunil Kumar Dubey
Zhe Chen
Yuxiao Jarvan Jiang
Austin Talis
Andrei Molotkov
Akiva Mintz
Fatemeh Momen‐Heravi
Columbia Affiliation:
Subjects:
Gene Editing (MeSH)
Extracellular Vesicles (MeSH)
CRISPR-Cas Systems (MeSH)
Gene Transfer Techniques (MeSH)
Exosome Biology and Function in Intercellular Communication (OpenAlex Topic)
Mechanisms and Applications of RNA Interference (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Author Keywords:
crispr
cas
delivery
sevs
genome editing
Grants:
P30CA016087 (NIH – National Cancer Institute)
R35GM151259 (NIH – National Institute of General Medical Sciences)
Publication Type:
Article
Unique ID:
10.7150/thno.92133
PMID:
38773978
DOI:
10.7150/thno.92133
Journal:
Theranostics
Publication Date:
Data Source:
OpenAlex
Source Link:
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Programmable RNA targeting with CRISPR-Cas13

Shi, P., & Wu, X. (2024). Programmable RNA targeting with CRISPR-Cas13. RNA Biology, 21(1), 1–9. https://doi.org/10.1080/15476286.2024.2351657
Authors:
Peiguo Shi
Xuebing Wu
Affiliated Authors:
Peiguo Shi
Xuebing Wu
Columbia Affiliation:
Subjects:
Clustered Regularly Interspaced Short Palindromic Repeats and CRISPR-associated proteins (OpenAlex Topic)
Ribosome Structure and Translation Mechanisms (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
CRISPR-Cas Systems (MeSH)
RNA (MeSH)
RNA, Guide, CRISPR-Cas Systems (MeSH)
Author Keywords:
crispr-cas13
rna
collateral activity
Grants:
R01HL171664 (NIH – National Heart, Lung, and Blood Institute)
DP2GM140977 (NIH – National Institute of General Medical Sciences)
Publication Type:
Article
Unique ID:
10.1080/15476286.2024.2351657
PMID:
38764173
DOI:
10.1080/15476286.2024.2351657
Journal:
RNA Biology
Publication Date:
Data Source:
PubMed
Source Link:
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MAPT Locus in Parkinson’s Disease Patients of Ashkenazi Origin: A Stratified Analysis

Shani, S., Gana-Weisz, M., Bar-Shira, A., Thaler, A., Gurevich, T., Mirelman, A., Giladi, N., Alcalay, R. N., Goldstein, O., & Orr-Urtreger, A. (2023). MAPT Locus in Parkinson’s Disease Patients of Ashkenazi Origin: A Stratified Analysis. Genes, 15(1), 46. https://doi.org/10.3390/genes15010046
Authors:
Shachar Shani
Mali Gana-Weisz
Anat Bar-Shira
Avner Thaler
Tanya Gurevich
Anat Mirelman
Nir Giladi
Roy N. Alcalay
Orly Goldstein
Avi Orr-Urtreger
Affiliated Authors:
Roy N. Alcalay
Columbia Affiliation:
Subjects:
Parkinson Disease (MeSH)
Neurodegeneration with Brain Iron Accumulation (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Pathophysiology of Parkinson's Disease (OpenAlex Topic)
Author Keywords:
mapt
parkinson's disease
gba1
lrrk2
h2 haplotype
kansl1
parkinson’s disease
Publication Type:
Article
Unique ID:
10.3390/genes15010046
PMID:
38254936
DOI:
10.3390/genes15010046
Journal:
Genes
Publication Date:
Data Source:
Scopus
Source Link:
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Collateral activity of the CRISPR/RfxCas13d system in human cells

Shi, P., Murphy, M. R., Aparicio, A. O., Kesner, J. S., Fang, Z., Chen, Z., Trehan, A., Guo, Y., & Wu, X. (2023). Collateral activity of the CRISPR/RfxCas13d system in human cells. Communications Biology, 6(1). https://doi.org/10.1038/s42003-023-04708-2
Authors:
Peiguo Shi
Michael R. Murphy
Alexis O. Aparicio
Jordan S. Kesner
Zhou Fang
Ziheng Chen
Aditi Trehan
Yang Guo
Xuebing Wu
Affiliated Authors:
Peiguo Shi
Michael R. Murphy
Alexis O. Aparicio
Jordan S. Kesner
Zhou Fang
Ziheng Chen
Aditi Trehan
Yang Guo
Xuebing Wu
Columbia Affiliation:
Subjects:
CRISPR-Cas Systems (MeSH)
RNA (MeSH)
Clustered Regularly Interspaced Short Palindromic Repeats and CRISPR-associated proteins (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Mechanisms and Applications of RNA Interference (OpenAlex Topic)
Grants:
P30CA013696 (NIH – National Cancer Institute)
S10RR027050 (NIH – National Center for Research Resources)
DP2GM140977 (NIH – National Institute of General Medical Sciences)
S10OD020056 (NIH – Office of the Director, National Institutes of Health)
Publication Type:
Article
Unique ID:
10.1038/s42003-023-04708-2
PMID:
36977923
DOI:
10.1038/s42003-023-04708-2
Journal:
Communications Biology
Publication Date:
Data Source:
Scopus
Source Link:
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A tale of two pathways: Two distinct mechanisms of ADAR1 prevent fatal autoinflammation

Dorrity, T. J., & Chung, H. (2023). A tale of two pathways: Two distinct mechanisms of ADAR1 prevent fatal autoinflammation. Molecular Cell, 83(21), 3760–3762. https://doi.org/10.1016/j.molcel.2023.10.005
Authors:
Tyler J Dorrity
Hachung Chung
Affiliated Authors:
Tyler J Dorrity
Hachung Chung
Columbia Affiliation:
Subjects:
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Aetiology, Diagnosis, and Management of Myocarditis (OpenAlex Topic)
Regulation of RNA Processing and Function (OpenAlex Topic)
RNA, Double-Stranded (MeSH)
Adenosine Deaminase (MeSH)
Publication Type:
Article
Unique ID:
10.1016/j.molcel.2023.10.005
PMID:
37922869
DOI:
10.1016/j.molcel.2023.10.005
Journal:
Molecular Cell
Publication Date:
Data Source:
PubMed
Source Link:
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Prediction of cardiac death in patients with hypertrophic cardiomyopathy using RNA-sequencing of plasma small non-coding RNAS

Akita, K., Hasegawa, K., Maurer, M. S., Tower-Rader, A., Fifer, M. A., Topkara, V. K., Reilly, M. P., & Shimada, Y. J. (2023). Prediction of cardiac death in patients with hypertrophic cardiomyopathy using RNA-sequencing of plasma small non-coding RNAS. European Heart Journal, 44(Supplement_2). https://doi.org/10.1093/eurheartj/ehad655.1847
Authors:
Takashi Kohno
Kohei Hasegawa
Matthew J. Maurer
Albree Tower‐Rader
Michael A. Fifer
V.K. Topkara
Muredach P. Reilly
Yuichi J. Shimada
Affiliated Authors:
Takashi Kohno
Matthew J. Maurer
V.K. Topkara
Muredach P. Reilly
Yuichi J. Shimada
Columbia Affiliation:
Subjects:
RNA Methylation and Modification in Gene Expression (OpenAlex Topic)
Regulation of RNA Processing and Function (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Publication Type:
Article
Unique ID:
10.1093/eurheartj/ehad655.1847
DOI:
10.1093/eurheartj/ehad655.1847
Journal:
European Heart Journal
Publication Date:
Data Source:
OpenAlex
Source Link:
View OpenAlex Record

Record Created:

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Maroofian, R., Kaiyrzhanov, R., Cali, E., Zamani, M., Zaki, M. S., Ferla, M., Tortora, D., Sadeghian, S., Saadi, S. M., Abdullah, U., Karimiani, E. G., Efthymiou, S., Yeşil, G., Alavi, S., Al Shamsi, A. M., Tajsharghi, H., Abdel-Hamid, M. S., Saadi, N. W., Al Mutairi, F., … Severino, M. (2023). Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain, 146(12), 5031–5043. https://doi.org/10.1093/brain/awad257
Authors:
Reza Maroofian
Rauan Kaiyrzhanov
Elisa Calì
Mina Zamani
Maha S. Zaki
Matteo P. Ferla
Domenico Tortora
Saeid Sadeghian
Saadia Maryam Saadi
Uzma Abdullah
Ehsan Ghayoor Karimiani
Stéphanie Efthymiou
Gözde Yeşil
Shahryar Alavi
Aisha M. Al Shamsi
Homa Tajsharghi
Mohamed S. Abdel‐Hamid
Nebal Waill Saadi
Fuad Al Mutairi
Lama AlAbdi
Christian Beetz
Zafar Ali
Mehran Beiraghi Toosi
Sabine Rudnik‐Schöneborn
Meisam Babaei
Pirjo Isohanni
Jameel Muhammad
Sheraz Khan
Maha Al Shalan
Scott E. Hickey
Daphna Marom
Emil Elhanan
Manju A. Kurian
Dana Marafi
Alihossein Saberi
Mohammad Hamid
Robert Spaull
Linyan Meng
Seema R. Lalani
Shazia Maqbool
Fatima Rahman
Jürgen Seeger
Timothy Blake Palculict
Tracy Lau
David Murphy
Niccolò E. Mencacci
Katharina Steindl
Anaïs Begemann
Anita Rauch
Sinan Akbas
Ayça Dilruba Aslanger
Karl T. Weber
Hammad Yousaf
Shay Ben‐Shachar
Katarina Ejeskär
Aida I. Al Aqeel
Frances A. High
Amy Armstrong‐Javors
Seyed Mohammadsaleh Zahraei
Tahereh Seifi
Jawaher Zeighami
Gholamreza Shariati
Alireza Sedaghat
Samaneh Noroozi Asl
Mohmmad Shahrooei
Giovanni Zifarelli
Lydie Bürglen
Claudia Ravelli
Johannes Zschocke
Ulrich A. Schatz
Maryam Ghavideldarestani
Walaa A. Kamel
Hilde Van Esch
Annette Hackenberg
Jenny C. Taylor
Lihadh Al‐Gazali
Peter Bauer
Joseph J Gleeson
Fowzan S. Alkuraya
James R. Lupski
Hamid Galehdari
Reza Azizi Malamiri
Wendy K. Chung
Shahid Mahmood Baig
Henry Houlden
Mariasavina Severino
Affiliated Authors:
Wendy K. Chung
Columbia Affiliation:
Subjects:
RNA Methylation and Modification in Gene Expression (OpenAlex Topic)
Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Grants:
R35NS105078 (NIH – National Institute of Neurological Disorders and Stroke)
Publication Type:
Article
Unique ID:
10.1093/brain/awad257
PMID:
37517035
DOI:
10.1093/brain/awad257
Journal:
Brain
Publication Date:
Data Source:
OpenAlex
Source Link:
View OpenAlex Record

Record Created:

CPEB3 low-complexity motif regulates local protein synthesis via protein-protein interactions in neuronal ribonucleoprotein granules

Ford, L., Asok, A., Tripp, A. D., Parro, C., Fitzpatrick, M., de Solis, C. A., Chen, P.-T. Y., Shafiian, N., Fioriti, L., Soni, R. K., & Kandel, E. R. (2023). CPEB3 low-complexity motif regulates local protein synthesis via protein–protein interactions in neuronal ribonucleoprotein granules. Proceedings of the National Academy of Sciences, 120(6). https://doi.org/10.1073/pnas.2114747120
Authors:
Lenzie Ford
Arun Asok
Arielle D Tripp
Cameron Parro
Michelle Fitzpatrick
Christopher A de Solis
Po-Tao Y Chen
Neeva Shafiian
Luana Fioriti
Rajesh K Soni
Eric R Kandel
Affiliated Authors:
Lenzie Ford
Arun Asok
Arielle D Tripp
Cameron Parro
Michelle Fitzpatrick
Christopher A de Solis
Po-Tao Y Chen
Neeva Shafiian
Rajesh K Soni
Eric R Kandel
Columbia Affiliation:
Subjects:
Regulation of RNA Processing and Function (OpenAlex Topic)
Ribosome Structure and Translation Mechanisms (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Memory, Long-Term (MeSH)
Neurons (MeSH)
Author Keywords:
biomolecular condensate
cpeb3
p body
processing body
rna-binding protein
Publication Type:
Article
Unique ID:
10.1073/pnas.2114747120
PMID:
36716374
DOI:
10.1073/pnas.2114747120
Journal:
Proceedings of the National Academy of Sciences of the United States of America
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View Scopus Record
View OpenAlex Record

Record Created:

Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy

do Rosario, M. C., Bey, G. R., Nmezi, B., Liu, F., Oranburg, T., Cohen, A. S. A., Coffman, K. A., Brown, M. R., Kiselyov, K., Waisfisz, Q., Flohil, M. T., Siddiqui, S., Rosenfeld, J. A., Iglesias, A., Girisha, K. M., Wolf, N. I., Padiath, Q. S., & Shukla, A. (2022). Variants in the zinc transporterTMEM163cause a hypomyelinating leukodystrophy. Brain, 145(12), 4202–4209. https://doi.org/10.1093/brain/awac295
Authors:
Michelle C do Rosario
Guillermo Rodriguez Bey
Bruce Nmezi
Fang Liu
Talia Oranburg
Ana S A Cohen
Keith A Coffman
Maya R Brown
Kirill Kiselyov
Quinten Waisfisz
Myrthe T Flohil
Shahyan Siddiqui
Jill A Rosenfeld
Alejandro Iglesias
Katta Mohan Girisha
Nicole I Wolf
Quasar Saleem Padiath
Anju Shukla
Affiliated Authors:
Alejandro Iglesias
Columbia Affiliation:
Subjects:
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Copper and Zinc in Health and Disease (OpenAlex Topic)
Regulation of RNA Processing and Function (OpenAlex Topic)
Pelizaeus-Merzbacher Disease (MeSH)
Author Keywords:
genomic testing
hypomyelinating leukodystrophies
oligodendrocytes
tmem163
Grants:
R33NS106087 (NIH – National Institute of Neurological Disorders and Stroke)
R33NS104384 (NIH – National Institute of Neurological Disorders and Stroke)
R01NS095884 (NIH – National Institute of Neurological Disorders and Stroke)
Publication Type:
Article
Unique ID:
10.1093/brain/awac295
PMID:
35953447
DOI:
10.1093/brain/awac295
Journal:
Brain
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View Scopus Record
View OpenAlex Record

Record Created:

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes

Wonkam, A., Adadey, S. M., Schrauwen, I., Aboagye, E. T., Wonkam-Tingang, E., Esoh, K., Popel, K., Manyisa, N., Jonas, M., deKock, C., Nembaware, V., Cornejo Sanchez, D. M., Bharadwaj, T., Nasir, A., Everard, J. L., Kadlubowska, M. K., Nouel-Saied, L. M., Acharya, A., Quaye, O., … Leal, S. M. (2022). Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes. Communications Biology, 5(1). https://doi.org/10.1038/s42003-022-03326-8
Authors:
Ambroise Wonkam
Samuel Mawuli Adadey
Isabelle Schrauwen
Elvis Twumasi Aboagye
Edmond Wonkam-Tingang
Kevin Esoh
Kalinka Popel
Noluthando Manyisa
Mario Jonas
Carmen deKock
Victoria Nembaware
Diana M. Cornejo Sanchez
Thashi Bharadwaj
Abdul Nasir
Jenna L. Everard
Magda K. Kadlubowska
Liz M. Nouel-Saied
Anushree Acharya
Osbourne Quaye
Geoffrey K. Amedofu
Gordon A. Awandare
Suzanne M. Leal
Affiliated Authors:
Isabelle Schrauwen
Diana M. Cornejo Sanchez
Thashi Bharadwaj
Jenna L. Everard
Magda K. Kadlubowska
Liz M. Nouel-Saied
Anushree Acharya
Suzanne M. Leal
Columbia Affiliation:
Subjects:
Exome (MeSH)
Hearing Loss (MeSH)
Cochlear Neuropathy and Hearing Loss Mechanisms (OpenAlex Topic)
Structure and Function of Gap Junctions and Connexins (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Grants:
R01DC011651 (NIH – National Institute On Deafness and Other Communication Disorders)
R01DC003594 (NIH – National Institute On Deafness and Other Communication Disorders)
Publication Type:
Article
Unique ID:
10.1038/s42003-022-03326-8
PMID:
35440622
DOI:
10.1038/s42003-022-03326-8
Journal:
Communications Biology
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View OpenAlex Record
View PubMed Record
View Web of Science Record

Record Created:

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

El Chehadeh, S., Han, K. A., Kim, D., Jang, G., Bakhtiari, S., Lim, D., Kim, H. Y., Kim, J., Kim, H., Wynn, J., Chung, W. K., Vitiello, G., Cutcutache, I., Page, M., Gecz, J., Harper, K., Han, A., Kim, H. M., Wessels, M., … Um, J. W. (2022). SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice. Nature Communications, 13(1). https://doi.org/10.1038/s41467-022-31566-z
Authors:
Salima El Chehadeh
Kyung Ah Han
Dongwook Kim
Gyubin Jang
Somayeh Bakhtiari
Dongseok Lim
Hee Young Kim
Jinhu Kim
Hyeonho Kim
Julia Wynn
Wendy K. Chung
Giuseppina Vitiello
Ioana Cutcutache
Matthew Page
Jozef Gecz
Kelly Harper
Ah-reum Han
Ho Min Kim
Marja Wessels
Allan Bayat
Alberto Fernández Jaén
Angelo Selicorni
Silvia Maitz
Arjan P. M. de Brouwer
Anneke Vulto-van Silfhout
Martin Armstrong
Joseph Symonds
Sébastien Küry
Bertrand Isidor
Benjamin Cogné
Mathilde Nizon
Claire Feger
Jean Muller
Erin Torti
Dorothy K. Grange
Marjolaine Willems
Michael C. Kruer
Jaewon Ko
Amélie Piton
Ji Won Um
Affiliated Authors:
Julia Wynn
Wendy K. Chung
Columbia Affiliation:
Subjects:
Neurodevelopmental Disorders (MeSH)
Synapses (MeSH)
Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)
Mechanisms of Intracellular Membrane Trafficking (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Grants:
R01NS106298 (NIH – National Institute of Neurological Disorders and Stroke)
Publication Type:
Article
Unique ID:
10.1038/s41467-022-31566-z
PMID:
35840571
DOI:
10.1038/s41467-022-31566-z
Journal:
Nature Communications
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View OpenAlex Record
View PubMed Record
View Web of Science Record

Record Created:

Intronic enhancers of the human SNCA gene predominantly regulate its expression in brain in vivo

Cheng, F., Zheng, W., Liu, C., Barbuti, P. A., Yu-Taeger, L., Casadei, N., Huebener-Schmid, J., Admard, J., Boldt, K., Junger, K., Ueffing, M., Houlden, H., Sharma, M., Kruger, R., Grundmann-Hauser, K., Ott, T., & Riess, O. (2022). Intronic enhancers of the human SNCA gene predominantly regulate its expression in brain in vivo. Science Advances, 8(47). https://doi.org/10.1126/sciadv.abq6324
Authors:
Fubo Cheng
Wenxu Zheng
Chang Liu
Peter A. Barbuti
Libo Yu-Taeger
Nicolas Casadei
J. Schmidtke
Jakob Admard
Karsten Boldt
Katrin Junger
Marius Ueffing
Henry Houlden
Manu Sharma
Rejko Krüger
Kathrin Grundmann‐Hauser
Thomas Ott
Olaf Rieß
Affiliated Authors:
Peter A. Barbuti
Columbia Affiliation:
Subjects:
Brain (MeSH)
Parkinson Disease (MeSH)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Regulation of RNA Processing and Function (OpenAlex Topic)
Clustered Regularly Interspaced Short Palindromic Repeats and CRISPR-associated proteins (OpenAlex Topic)
Publication Type:
Article
Unique ID:
10.1126/sciadv.abq6324
PMID:
36417521
DOI:
10.1126/sciadv.abq6324
Journal:
Science Advances
Publication Date:
Data Source:
OpenAlex
Source Link:
View OpenAlex Record
View PubMed Record
View Scopus Record
View Web of Science Record

Record Created:

Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy

Hopfner, F., Tietz, A. K., Ruf, V. C., Ross, O. A., Koga, S., Dickson, D., Aguzzi, A., Attems, J., Beach, T., Beller, A., Cheshire, W. P., van Deerlin, V., Desplats, P., Deuschl, G., Duyckaerts, C., Ellinghaus, D., Evsyukov, V., Flanagan, M. E., Franke, A., … Höglinger, G. (2022). Common Variants Near ZIC1 and ZIC4 in Autopsy‐Confirmed Multiple System Atrophy. Movement Disorders, 37(10), 2110–2121. Portico. https://doi.org/10.1002/mds.29164
Authors:
Franziska Hopfner
Anja K. Tietz
Viktoria C. Ruf
Owen A. Ross
Shunsuke Koga
Dennis Dickson
Adriano Aguzzi
Johannes Attems
Thomas Beach
Allison Beller
William P. Cheshire
Vivianna van Deerlin
Paula Desplats
Günther Deuschl
Charles Duyckaerts
David Ellinghaus
Valentin Evsyukov
Margaret Ellen Flanagan
Andre Franke
Matthew P. Frosch
Marla Gearing
Ellen Gelpi
Jay A. van Gerpen
Bernardino Ghetti
Jonathan D. Glass
Lea T. Grinberg
Glenda Halliday
Ingo Helbig
Matthias Höllerhage
Inge Huitinga
David John Irwin
Dirk C. Keene
Gabor G. Kovacs
Edward B. Lee
Johannes Levin
Maria J. Martí
Ian Mackenzie
Ian McKeith
Catriona Mclean
Brit Mollenhauer
Manuela Neumann
Kathy L. Newell
Alex Pantelyat
Manuela Pendziwiat
Annette Peters
Laura Molina Porcel
Alberto Rabano
Radoslav Matěj
Alex Rajput
Ali Rajput
Regina Reimann
William K. Scott
William Seeley
Sashika Selvackadunco
Tanya Simuni
Christine Stadelmann
Per Svenningsson
Alan Thomas
Claudia Trenkwalder
Claire Troakes
John Q. Trojanowski
Ryan J. Uitti
Charles L. White
Zbigniew K. Wszolek
Tao Xie
Teresa Ximelis
Justo Yebenes
Ulrich Müller
Gerard D. Schellenberg
Jochen Herms
Gregor Kuhlenbäumer
Günter Höglinger
Affiliated Authors:
Ingo Helbig
Columbia Affiliation:
Subjects:
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Pathophysiology of Parkinson's Disease (OpenAlex Topic)
Neurodegeneration with Brain Iron Accumulation (OpenAlex Topic)
Multiple System Atrophy (MeSH)
Olivopontocerebellar Atrophies (MeSH)
Striatonigral Degeneration (MeSH)
Author Keywords:
multiple system atrophy
genome-wide association study
autopsy-confirmed
zic1
zic4
Grants:
U54NS110435 (NIH – National Institute of Neurological Disorders and Stroke)
U24NS120854 (NIH – National Institute of Neurological Disorders and Stroke)
P50NS053488 (NIH – National Institute of Neurological Disorders and Stroke)
U24AG041689 (NIH – National Institute On Aging)
P01AG066597 (NIH – National Institute On Aging)
P50AG005136 (NIH – National Institute On Aging)
P30AG066509 (NIH – National Institute On Aging)
U01AG032984 (NIH – National Institute On Aging)
P30AG072977 (NIH – National Institute On Aging)
K08AG065463 (NIH – National Institute On Aging)
U19AG062418 (NIH – National Institute On Aging)
U24AG021886 (NIH – National Institute On Aging)
U01AG016976 (NIH – National Institute On Aging)
Publication Type:
Article
Unique ID:
10.1002/mds.29164
PMID:
35997131
DOI:
10.1002/mds.29164
Journal:
Movement Disorders
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View PubMed Record
View OpenAlex Record
View Web of Science Record

Record Created:

Regulation of Archease by the mTOR-vATPase axis

Francis, D., Burguete, A. S., & Ghabrial, A. S. (2022). Regulation of Archease by the mTOR-vATPase axis. Development, 149(19). https://doi.org/10.1242/dev.200908
Authors:
Deanne Francis
Alondra S. Burguete
Amin S. Ghabrial
Affiliated Authors:
Alondra S. Burguete
Amin S. Ghabrial
Columbia Affiliation:
Subjects:
Regulation of RNA Processing and Function (OpenAlex Topic)
RNA Methylation and Modification in Gene Expression (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Drosophila Proteins (MeSH)
RNA Ligase (ATP) (MeSH)
Author Keywords:
key words
archease
drosophila
mtor
trna maturation
trachea
vatpase
Grants:
R01GM089782 (NIH – National Institute of General Medical Sciences)
Publication Type:
Article
Unique ID:
10.1242/dev.200908
PMID:
36111596
DOI:
10.1242/dev.200908
Journal:
Development
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View PubMed Record
View Web of Science Record
View OpenAlex Record

Record Created:

139 Pathogenic CD8+ T cell infiltration and immune synapse formation in alopecia areata hair follicles

Gund, R., Mace, E. M., & Christiano, A. M. (2022). 139 Pathogenic CD8+ T cell infiltration and immune synapse formation in alopecia areata hair follicles. Journal of Investigative Dermatology, 142(8), S24. https://doi.org/10.1016/j.jid.2022.05.145
Authors:
R. Gund
E.M. Mace
A.M. Christiano
Affiliated Authors:
R. Gund
E.M. Mace
A.M. Christiano
Subjects:
Regulation and Function of Hair Follicle Stem Cells (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Publication Type:
Article
Unique ID:
10.1016/j.jid.2022.05.145
DOI:
10.1016/j.jid.2022.05.145
Journal:
Journal of Investigative Dermatology
Publication Date:
Data Source:
OpenAlex
Source Link:
View OpenAlex Record

Record Created:

064 Functional interrogation of lymphocyte subsets in alopecia areata using single-cell RNA sequencing

Lee, E. Y., Dai, Z., Wang, E., & Christiano, A. M. (2022). 064 Functional interrogation of lymphocyte subsets in alopecia areata using single-cell RNA sequencing. Journal of Investigative Dermatology, 142(8), S11. https://doi.org/10.1016/j.jid.2022.05.118
Authors:
E.Y. Lee
Zhijun Dai
E. Wang
A.M. Christiano
Affiliated Authors:
E.Y. Lee
Zhijun Dai
E. Wang
A.M. Christiano
Columbia Affiliation:
Subjects:
Immunological Mechanisms in Atherosclerosis Development (OpenAlex Topic)
Natural Killer Cells in Immunity (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Publication Type:
Abstract
Unique ID:
10.1016/j.jid.2022.05.118
DOI:
10.1016/j.jid.2022.05.118
Journal:
Journal of Investigative Dermatology
Publication Date:
Data Source:
OpenAlex
Source Link:
View OpenAlex Record

Record Created:

Primary cicatricial alopecias are characterized by dysregulation of shared gene expression pathways

Wang, E. H. C., Monga, I., Sallee, B. N., Chen, J. C., Abdelaziz, A. R., Perez-Lorenzo, R., Bordone, L. A., & Christiano, A. M. (2022). Primary cicatricial alopecias are characterized by dysregulation of shared gene expression pathways. PNAS Nexus, 1(3). https://doi.org/10.1093/pnasnexus/pgac111
Authors:
Eddy H.C. Wang
Isha Monga
B. Sallee
James C. Chen
A.R. Abdelaziz
Rolando Pérez‐Lorenzo
Lindsey Bordone
Angela M. Christiano
Affiliated Authors:
Eddy H.C. Wang
Isha Monga
B. Sallee
James C. Chen
A.R. Abdelaziz
Rolando Pérez‐Lorenzo
Lindsey Bordone
Angela M. Christiano
Columbia Affiliation:
Subjects:
Regulation and Function of Hair Follicle Stem Cells (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Grants:
P30CA013696 (NIH – National Cancer Institute)
P30AR069632 (NIH – National Institute of Arthritis and Musculoskeletal and Skin Diseases)
Publication Type:
Article
Unique ID:
10.1093/pnasnexus/pgac111
PMID:
35899069
DOI:
10.1093/pnasnexus/pgac111
Journal:
PNAS Nexus
Publication Date:
Data Source:
OpenAlex
Source Link:
View OpenAlex Record
View PubMed Record
View Scopus Record
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Record Created:

The Parkinson's disease protein alpha-synuclein is a modulator of processing bodies and mRNA stability

Hallacli, E., Kayatekin, C., Nazeen, S., Wang, X. H., Sheinkopf, Z., Sathyakumar, S., Sarkar, S., Jiang, X., Dong, X., Di Maio, R., Wang, W., Keeney, M. T., Felsky, D., Sandoe, J., Vahdatshoar, A., Udeshi, N. D., Mani, D. R., Carr, S. A., Lindquist, S., … Khurana, V. (2022). The Parkinson’s disease protein alpha-synuclein is a modulator of processing bodies and mRNA stability. Cell, 185(12), 2035-2056.e33. https://doi.org/10.1016/j.cell.2022.05.008
Authors:
Erinc Hallacli
Can Kayatekin
Sumaiya Nazeen
Xiou H Wang
Zoe Sheinkopf
Shubhangi Sathyakumar
Souvarish Sarkar
Xin Jiang
Xianjun Dong
Roberto Di Maio
Wen Wang
Matthew T Keeney
Daniel Felsky
Jackson Sandoe
Aazam Vahdatshoar
Namrata D Udeshi
D R Mani
Steven A Carr
Susan Lindquist
Philip L De Jager
David P Bartel
Chad L Myers
J Timothy Greenamyre
Mel B Feany
Shamil R Sunyaev
Chee Yeun Chung
Vikram Khurana
Affiliated Authors:
Philip L De Jager
Columbia Affiliation:
Subjects:
Pathophysiology of Parkinson's Disease (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Regulation of RNA Processing and Function (OpenAlex Topic)
Parkinson Disease (MeSH)
alpha-Synuclein (MeSH)
Author Keywords:
alpha-synuclein
ipsc
lewy body disease
mrna degradation
mrna stability
parkinson's disease
processing bodies
rare variant
rna-binding proteins
synucleinopathy
Grants:
R35GM127131 (NIH – National Institute of General Medical Sciences)
R01MH101244 (NIH – National Institute of Mental Health)
R21NS112858 (NIH – National Institute of Neurological Disorders and Stroke)
R01NS109209 (NIH – National Institute of Neurological Disorders and Stroke)
Publication Type:
Article
Unique ID:
10.1016/j.cell.2022.05.008
PMID:
35688132
DOI:
10.1016/j.cell.2022.05.008
Journal:
Cell
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View OpenAlex Record
View Scopus Record
View Web of Science Record

Record Created:

Z-α 1 -antitrypsin polymers impose molecular filtration in the endoplasmic reticulum after undergoing phase transition to a solid state

Chambers, J. E., Zubkov, N., Kubánková, M., Nixon-Abell, J., Mela, I., Abreu, S., Schwiening, M., Lavarda, G., López-Duarte, I., Dickens, J. A., Torres, T., Kaminski, C. F., Holt, L. J., Avezov, E., Huntington, J. A., George-Hyslop, P. S., Kuimova, M. K., & Marciniak, S. J. (2022). Z-α1-antitrypsin polymers impose molecular filtration in the endoplasmic reticulum after undergoing phase transition to a solid state. Science Advances, 8(14). https://doi.org/10.1126/sciadv.abm2094
Authors:
Joseph E. Chambers
Nikita Zubkov
Markéta Kubánková
Jonathon Nixon‐Abell
Ioanna Mela
Susana Abreu
Max Schwiening
Giulia Lavarda
Ismael López‐Duarte
Jennifer A. Dickens
Tomás Torres⊗
Clemens F. Kaminski
Liam J. Holt
Edward Avezov
James A. Huntington
Peter St George‐Hyslop
Marina K. Kuimova
Stefan J. Marciniak
Affiliated Authors:
Peter St George‐Hyslop
Columbia Affiliation:
Subjects:
Endoplasmic Reticulum Stress and Unfolded Protein Response (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Role of Autophagy in Disease and Health (OpenAlex Topic)
Grants:
R37CA240765 (NIH – National Cancer Institute)
Publication Type:
Article
Unique ID:
10.1126/sciadv.abm2094
PMID:
35394846
DOI:
10.1126/sciadv.abm2094
Journal:
Science Advances
Publication Date:
Data Source:
OpenAlex
Source Link:
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Record Created:

Glia Imaging Differentiates Multiple System Atrophy from Parkinson's Disease: A Positron Emission Tomography Study with [11C]PBR28 and Machine Learning Analysis

Jucaite, A., Cselényi, Z., Kreisl, W. C., Rabiner, E. A., Varrone, A., Carson, R. E., Rinne, J. O., Savage, A., Schou, M., Johnström, P., Svenningsson, P., Rascol, O., Meissner, W. G., Barone, P., Seppi, K., Kaufmann, H., Wenning, G. K., Poewe, W., & Farde, L. (2021). Glia Imaging Differentiates Multiple System Atrophy from Parkinson’s Disease: A Positron Emission Tomography Study with [11C]PBR28 and Machine Learning Analysis. Movement Disorders, 37(1), 119–129. Portico. https://doi.org/10.1002/mds.28814
Authors:
Aurelija Jucaite
Zsolt Cselényi
William C. Kreisl
Eugenii A. Rabiner
Andrea Varrone
Richard E. Carson
Juha O. Rinne
Alicia Savage
Magnus Schou
Peter Johnström
Per Svenningsson
Olivier Rascol
Wassilios G. Meissner
Paolo Barone
Klaus Seppi
Horacio Kaufmann
Gregor K. Wenning
Werner Poewe
Lars Farde
Affiliated Authors:
William C. Kreisl
Columbia Affiliation:
Subjects:
Pathophysiology of Parkinson's Disease (OpenAlex Topic)
Deep Brain Stimulation for Neurological Disorders (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Multiple System Atrophy (MeSH)
Neuroglia (MeSH)
Parkinson Disease (MeSH)
Positron-Emission Tomography (MeSH)
Author Keywords:
multiple system atrophy
microglia
translocator protein
positron emission tomography
[c-11]pbr28
[11c]pbr28
Publication Type:
Article
Unique ID:
10.1002/mds.28814
PMID:
34609758
DOI:
10.1002/mds.28814
Journal:
Movement Disorders
Publication Date:
Data Source:
Scopus
Source Link:
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Record Created:

Metabolic Enzyme Alterations and Astrocyte Dysfunction in a Murine Model of Alexander Disease with Severe Reactive Gliosis

Heaven, M. R., Herren, A. W., Flint, D. L., Pacheco, N. L., Li, J., Tang, A., Khan, F., Goldman, J. E., Phinney, B. S., & Olsen, M. L. (2022). Metabolic Enzyme Alterations and Astrocyte Dysfunction in a Murine Model of Alexander Disease With Severe Reactive Gliosis. Molecular & Cellular Proteomics, 21(1), 100180. https://doi.org/10.1016/j.mcpro.2021.100180
Authors:
Michael R. Heaven
Anthony W. Herren
Daniel L. Flint
Natasha L. Pacheco
Jiangtao Li
Alice Tang
Fatima Khan
James E. Goldman
Brett S. Phinney
Michelle L. Olsen
Affiliated Authors:
Alice Tang
Fatima Khan
James E. Goldman
Columbia Affiliation:
Subjects:
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Regulation of RNA Processing and Function (OpenAlex Topic)
RNA Methylation and Modification in Gene Expression (OpenAlex Topic)
Alexander Disease (MeSH)
Author Keywords:
alexander disease
fabp7
ugt8
astrocytes
reactive gliosis
Grants:
R01HL104101 (NIH – National Heart, Lung, and Blood Institute)
R01NS120746 (NIH – National Institute of Neurological Disorders and Stroke)
S10OD021801 (NIH – Office of the Director, National Institutes of Health)
Publication Type:
Article
Unique ID:
10.1016/j.mcpro.2021.100180
PMID:
34808356
DOI:
10.1016/j.mcpro.2021.100180
Journal:
Molecular and Cellular Proteomics
Publication Date:
Data Source:
Scopus
Source Link:
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Record Created:

Atlas of RNA editing events affecting protein expression in aged and Alzheimer's disease human brain tissue

Ma, Y., Dammer, E. B., Felsky, D., Duong, D. M., Klein, H.-U., White, C. C., Zhou, M., Logsdon, B. A., McCabe, C., Xu, J., Wang, M., Wingo, T. S., Lah, J. J., Zhang, B., Schneider, J., Allen, M., Wang, X., Ertekin-Taner, N., Seyfried, N. T., … De Jager, P. L. (2021). Atlas of RNA editing events affecting protein expression in aged and Alzheimer’s disease human brain tissue. Nature Communications, 12(1). https://doi.org/10.1038/s41467-021-27204-9
Authors:
Yiyi Ma
Eric B Dammer
Daniel Felsky
Duc M Duong
Hans-Ulrich Klein
Charles C White
Maotian Zhou
Benjamin A Logsdon
Cristin McCabe
Jishu Xu
Minghui Wang
Thomas S Wingo
James J Lah
Bin Zhang
Julie Schneider
Mariet Allen
Xue Wang
Nilüfer Ertekin-Taner
Nicholas T Seyfried
Allan I Levey
David A Bennett
Philip L De Jager
Affiliated Authors:
Yiyi Ma
Hans-Ulrich Klein
Philip L De Jager
Columbia Affiliation:
Subjects:
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Regulation of RNA Processing and Function (OpenAlex Topic)
Ribosome Structure and Translation Mechanisms (OpenAlex Topic)
Alzheimer Disease (MeSH)
ORAI2 Protein (MeSH)
RNA (MeSH)
Synaptotagmins (MeSH)
RNA Editing (MeSH)
Transcriptome (MeSH)
Grants:
KL2RR024151 (NIH – National Center for Research Resources)
U01ES017155 (NIH – National Institute of Environmental Health Sciences)
P30NS055077 (NIH – National Institute of Neurological Disorders and Stroke)
U24NS072026 (NIH – National Institute of Neurological Disorders and Stroke)
R01NS080820 (NIH – National Institute of Neurological Disorders and Stroke)
U01AG046170 (NIH – National Institute On Aging)
R01AG057911 (NIH – National Institute On Aging)
U01AG006786 (NIH – National Institute On Aging)
P30AG019610 (NIH – National Institute On Aging)
R01AG017917 (NIH – National Institute On Aging)
R01AG032990 (NIH – National Institute On Aging)
P50AG025688 (NIH – National Institute On Aging)
U01AG046139 (NIH – National Institute On Aging)
U01AG061356 (NIH – National Institute On Aging)
R01AG057907 (NIH – National Institute On Aging)
R01AG030146 (NIH – National Institute On Aging)
RF1AG054014 (NIH – National Institute On Aging)
K08AG034290 (NIH – National Institute On Aging)
R01AG036836 (NIH – National Institute On Aging)
R01AG061800 (NIH – National Institute On Aging)
R01AG042210 (NIH – National Institute On Aging)
R01AG018023 (NIH – National Institute On Aging)
R01AG043617 (NIH – National Institute On Aging)
P50AG016574 (NIH – National Institute On Aging)
P30AG010161 (NIH – National Institute On Aging)
P01AG003949 (NIH – National Institute On Aging)
RF1AG057440 (NIH – National Institute On Aging)
R01AG053960 (NIH – National Institute On Aging)
R01AG036042 (NIH – National Institute On Aging)
U01AG046161 (NIH – National Institute On Aging)
R01AG015819 (NIH – National Institute On Aging)
U01AG046152 (NIH – National Institute On Aging)
P01AG017216 (NIH – National Institute On Aging)
RC2AG036547 (NIH – National Institute On Aging)
R01AG011101 (NIH – National Institute On Aging)
P50AG025711 (NIH – National Institute On Aging)
Publication Type:
Article
Unique ID:
10.1038/s41467-021-27204-9
PMID:
34857756
DOI:
10.1038/s41467-021-27204-9
Journal:
Nature Communications
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created:

Structure and desensitization of AMPA receptor complexes with type II TARP γ5 and GSG1L

Klykov, O., Gangwar, S. P., Yelshanskaya, M. V., Yen, L., & Sobolevsky, A. I. (2021). Structure and desensitization of AMPA receptor complexes with type II TARP γ5 and GSG1L. Molecular Cell, 81(23), 4771-4783.e7. https://doi.org/10.1016/j.molcel.2021.09.030
Authors:
Oleg Klykov
Shanti Pal Gangwar
Maria V. Yelshanskaya
Laura Yen
Alexander I. Sobolevsky
Affiliated Authors:
Oleg Klykov
Shanti Pal Gangwar
Maria V. Yelshanskaya
Laura Yen
Alexander I. Sobolevsky
Columbia Affiliation:
Subjects:
Molecular Mechanisms of Ion Channels Regulation (OpenAlex Topic)
Molecular Mechanisms of Synaptic Plasticity and Neurological Disorders (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Calcium Channels (MeSH)
Claudins (MeSH)
Receptors, AMPA (MeSH)
Author Keywords:
ampa receptor
gsg1l
tarp
cryo-em
current kinetics
desensitization
gating
iglur
symmetry
γ5
Grants:
R01CA206573 (NIH – National Cancer Institute)
U24GM129541 (NIH – National Institute of General Medical Sciences)
U24GM129539 (NIH – National Institute of General Medical Sciences)
R01NS083660 (NIH – National Institute of Neurological Disorders and Stroke)
R01NS107253 (NIH – National Institute of Neurological Disorders and Stroke)
Publication Type:
Article
Unique ID:
10.1016/j.molcel.2021.09.030
PMID:
34678168
DOI:
10.1016/j.molcel.2021.09.030
Journal:
Molecular Cell
Publication Date:
Data Source:
Scopus
Source Link:
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Record Created:

Fully automated detection of paramagnetic rims in multiple sclerosis lesions on 3T susceptibility-based MR imaging

Lou, C., Sati, P., Absinta, M., Clark, K., Dworkin, J. D., Valcarcel, A. M., Schindler, M. K., Reich, D. S., Sweeney, E. M., & Shinohara, R. T. (2021). Fully automated detection of paramagnetic rims in multiple sclerosis lesions on 3T susceptibility-based MR imaging. NeuroImage: Clinical, 32, 102796. https://doi.org/10.1016/j.nicl.2021.102796
Authors:
Carolyn Lou
Pascal Sati
Martina Absinta
Kelly Clark
Jordan D Dworkin
Alessandra M Valcarcel
Matthew K Schindler
Daniel S Reich
Elizabeth M Sweeney
Russell T Shinohara
Affiliated Authors:
Jordan D Dworkin
Columbia Affiliation:
Subjects:
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Magnetic Resonance Imaging Applications in Medicine (OpenAlex Topic)
Focused Ultrasound Technology and Applications (OpenAlex Topic)
Multiple Sclerosis (MeSH)
White Matter (MeSH)
Author Keywords:
multiple sclerosis
neuroimaging
paramagnetic rim lesions
Grants:
KL2TR001879 (NIH – National Center for Advancing Translational Sciences)
R01MH112847 (NIH – National Institute of Mental Health)
R01NS112274 (NIH – National Institute of Neurological Disorders and Stroke)
R01NS060910 (NIH – National Institute of Neurological Disorders and Stroke)
Publication Type:
Article
Unique ID:
10.1016/j.nicl.2021.102796
PMID:
34644666
DOI:
10.1016/j.nicl.2021.102796
Journal:
NeuroImage: Clinical
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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Record Created:

Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13

Acharya, A., Raza, S. I., Anwar, M. Z., Bharadwaj, T., Liaqat, K., Khokhar, M. A. S., Everard, J. L., Nasir, A., Nickerson, D. A., Bamshad, M. J., Ansar, M., Schrauwen, I., Ahmad, W., & Leal, S. M. (2021). Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13. Journal of Human Genetics, 66(10), 1009–1018. https://doi.org/10.1038/s10038-021-00922-0
Authors:
Anushree Acharya
Syed Irfan Raza
Muhammad Zeeshan Anwar
Thashi Bharadwaj
Khurram Liaqat
Muhammad Akram Shahzad Khokhar
Jenna L. Everard
Abdul Nasir
Deborah A. Nickerson
Michael J. Bamshad
Muhammad Ansar
Isabelle Schrauwen
Wasim Ahmad
Suzanne M. Leal
Affiliated Authors:
Anushree Acharya
Thashi Bharadwaj
Jenna L. Everard
Isabelle Schrauwen
Suzanne M. Leal
Columbia Affiliation:
Subjects:
Endoplasmic Reticulum Stress and Unfolded Protein Response (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
RNA Methylation and Modification in Gene Expression (OpenAlex Topic)
CDC2 Protein Kinase (MeSH)
Deafness (MeSH)
Genetic Predisposition to Disease (MeSH)
Optic Atrophy (MeSH)
Wolfram Syndrome (MeSH)
Grants:
U54HG006493 (NIH – National Human Genome Research Institute)
UM1HG006493 (NIH – National Human Genome Research Institute)
R01DC003594 (NIH – National Institute On Deafness and Other Communication Disorders)
R01DC011651 (NIH – National Institute On Deafness and Other Communication Disorders)
Publication Type:
Article
Unique ID:
10.1038/s10038-021-00922-0
PMID:
33879837
DOI:
10.1038/s10038-021-00922-0
Journal:
Journal of Human Genetics
Publication Date:
Data Source:
Scopus
Source Link:
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Record Created:

Ethanol Induces Extracellular Vesicle Secretion by Altering Lipid Metabolism through the Mitochondria-Associated ER Membranes and Sphingomyelinases

Ibáñez, F., Montesinos, J., Area-Gomez, E., Guerri, C., & Pascual, M. (2021). Ethanol Induces Extracellular Vesicle Secretion by Altering Lipid Metabolism through the Mitochondria-Associated ER Membranes and Sphingomyelinases. International Journal of Molecular Sciences, 22(16), 8438. https://doi.org/10.3390/ijms22168438
Authors:
Francesc Ibáñez
Jorge Montesinos
Estela Area-Gomez
Consuelo Guerri
María Pascual
Affiliated Authors:
Jorge Montesinos
Estela Area-Gomez
Columbia Affiliation:
Subjects:
Exosome Biology and Function in Intercellular Communication (OpenAlex Topic)
Lipid Rafts and Membrane Dynamics (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Endoplasmic Reticulum (MeSH)
Ethanol (MeSH)
Extracellular Vesicles (MeSH)
Lipid Metabolism (MeSH)
Mitochondria (MeSH)
Mitochondrial Membranes (MeSH)
Sphingomyelin Phosphodiesterase (MeSH)
Author Keywords:
extracellular vesicles
lipid metabolism
mitochondria-associated er membranes
alcohol
neuroinflammation
microglia
sphingomyelinases
phospholipids
Publication Type:
Article
Unique ID:
10.3390/ijms22168438
PMID:
34445139
DOI:
10.3390/ijms22168438
Journal:
International Journal of Molecular Sciences
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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Record Created:

Dietary factors and MRI metrics in early Multiple Sclerosis

Katz Sand, I. B., Fitzgerald, K. C., Gu, Y., Brandstadter, R., Riley, C. S., Buyukturkoglu, K., Leavitt, V. M., Krieger, S., Miller, A., Lublin, F., Klineova, S., Fabian, M., & Sumowski, J. F. (2021). Dietary factors and MRI metrics in early Multiple Sclerosis. Multiple Sclerosis and Related Disorders, 53, 103031. https://doi.org/10.1016/j.msard.2021.103031
Authors:
I.B. Katz Sand
Kathryn C. Fitzgerald
Yian Gu
Rachel Brandstadter
Claire S. Riley
Korhan Buyukturkoglu
Victoria M. Leavitt
Stephen Krieger
Aaron Miller
Fred Lublin
Sylvia Klineova
Michelle Fabian
James F. Sumowski
Affiliated Authors:
Yian Gu
Claire S. Riley
Korhan Buyukturkoglu
Victoria M. Leavitt
Columbia Affiliation:
Subjects:
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Diagnosis and Pathogenesis of Multiple Sclerosis (OpenAlex Topic)
Epidemiology and Management of NAFLD (OpenAlex Topic)
Diet, Mediterranean (MeSH)
Multiple Sclerosis (MeSH)
Author Keywords:
multiple sclerosis
diet
mri
thalamus
mediterranean
diet, mri
Grants:
R01HD082176 (NIH – Eunice Kennedy Shriver National Institute of Child Health & Human Development)
R01AG061008 (NIH – National Institute On Aging)
Publication Type:
Article
Unique ID:
10.1016/j.msard.2021.103031
PMID:
34077830
DOI:
10.1016/j.msard.2021.103031
Journal:
Multiple Sclerosis and Related Disorders
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View PubMed Record
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Record Created:

Correction: Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13

Acharya, A., Raza, S. I., Anwar, M. Z., Bharadwaj, T., Liaqat, K., Khokhar, M. A. S., Everard, J. L., Nasir, A., Nickerson, D. A., Bamshad, M. J., Ansar, M., Schrauwen, I., Ahmad, W., & Leal, S. M. (2021). Correction: Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13. Journal of Human Genetics, 66(10), 1019–1019. https://doi.org/10.1038/s10038-021-00949-3
Authors:
Anushree Acharya
Syed Irfan Raza
Muhammad Zeeshan Anwar
Thashi Bharadwaj
Khurram Liaqat
Muhammad Akram Shahzad Khokhar
Jenna L. Everard
Abdul Nasır
Deborah A. Nickerson
Michael J. Bamshad
Muhammad Ansar
Isabelle Schrauwen
Wasim Ahmad
Suzanne M. Leal
Affiliated Authors:
Anushree Acharya
Thashi Bharadwaj
Jenna L. Everard
Isabelle Schrauwen
Suzanne M. Leal
Columbia Affiliation:
Subjects:
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Endoplasmic Reticulum Stress and Unfolded Protein Response (OpenAlex Topic)
Role of Galectins in Immunity and Disease (OpenAlex Topic)
Publication Type:
Article
Unique ID:
10.1038/s10038-021-00949-3
PMID:
34135457
DOI:
10.1038/s10038-021-00949-3
Journal:
Journal of Human Genetics
Publication Date:
Data Source:
OpenAlex
Source Link:
View OpenAlex Record

Record Created:

CSV