Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., Aznar-Laín, G., Aneja, A., Hancarova, M., Bendova, S., Schwarz, M., Kremlikova Pourova, R., Sedlacek, Z., Keena, B. A., March, M. E., … Hakonarson, H. (2024). Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. Journal of Clinical Investigation, 134(1). https://doi.org/10.1172/jci171235
Authors:
Dong Li
Qin Wang
Allan Bayat
Mark R. Battig
Yijing Zhou
Daniëlle G.M. Bosch
Gijs van Haaften
L. Kathryn Durham
Andrea Petersen
Luis A. Pérez‐Jurado
Gemma Aznar-Laín
Anushree Aneja
Miroslava Hančárová
Šárka Bendová
Martin Schwarz
Radka Kremlíková Pourova
Zdeněk Sedláček
Beth Keena
Michael March
Cuiping Hou
Nora O’Connor
Elizabeth Bhoj
Margaret Harr
Gabrielle Lemire
Kym M. Boycott
Meghan C. Towne
Megan Li
Mark A. Tarnopolsky
Lauren Brady
Michael Parker
Hanna Faghfoury
Lea Kristin Parsley
Emanuele Agolini
Maria Lisa Dentici
Antonio Novelli
Meredith S. Wright
Rachel Palmquist
Khanh Lai
Marcello Scala
Pasquale Striano
Michele Iacomino
Federico Zara
Annina H. Cooper
Timothy J. Maarup
Melissa Byler
Robert Roger Lebel
Tuğçe B. Balcı
Raymond J. Louie
Michael J. Lyons
Jessica Douglas
C. Nowak
Alexandra Afenjar
Juliane Hoyer
Boris Keren
Saskia M. Maas
Mahdi M. Motazacker
Julián A. Martínez-Agosto
Ahna M. Rabani
Elizabeth M. McCormick
Marni J. Falk
Sarah M. Ruggiero
Ingo Helbig
Rikke S. Møller
Lino Tessarollo
Francesco Tomassoni‐Ardori
Mary Ellen Palko
Tzung‐Chien Hsieh
Peter Krawitz
Mythily Ganapathi
Bruce D. Gelb
Vaidehi Jobanputra
Ashley Wilson
John M. Greally
Sébastien Lebon
Khadijé Jizi
Ange‐Line Bruel
Chloé Quēlin
Vinod K. Misra
Erika Chick
Corrado Romano
Donatella Greco
Alessia Arena
Manuela Morleo
Vincenzo Nigro
Rie Seyama
Yuri Uchiyama
Naomichi Matsumoto
Ryoji Taira
Katsuya Tashiro
Yasunari Sakai
Gökhan Yiğit
Bernd Wollnik
Michael Wagner
Barbara Kutsche
Wallace Se
Michelle L. Thompson
Ryan Schmidt
Linda M. Randolph
Mario Saporta
Vandana Shashi
Affiliated Authors:
Mythily Ganapathi
Ashley Wilson
Columbia Affiliation:
Subjects:
Spliceosomes (MeSH)
Neurodevelopmental Disorders (MeSH)
Regulation of RNA Processing and Function (OpenAlex Topic)
RNA Methylation and Modification in Gene Expression (OpenAlex Topic)
Ribosome Structure and Translation Mechanisms (OpenAlex Topic)
Author Keywords:
development
genetic diseases
genetics
neurodevelopment
ips cells
elink
Publication Type:
Article
Unique ID:
10.1172/jci171235
PMID:
37962958
DOI:
10.1172/jci171235
Journal:
Journal of Clinical Investigation
Publication Date:
Data Source:
OpenAlex
Source Link:
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Record Created: