TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

Brown, A.-L., Wilkins, O. G., Keuss, M. J., Hill, S. E., Zanovello, M., Lee, W. C., Bampton, A., Lee, F. C. Y., Masino, L., Qi, Y. A., Bryce-Smith, S., Gatt, A., Hallegger, M., Fagegaltier, D., Phatnani, H., Phatnani, H., Kwan, J., Sareen, D., … Fratta, P. (2022). TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Nature, 603(7899), 131–137. https://doi.org/10.1038/s41586-022-04436-3
Authors:
Anna-Leigh Brown
Oscar G. Wilkins
Matthew J. Keuss
Sarah E. Hill
Matteo Zanovello
Weaverly Colleen Lee
Alexander Bampton
Flora C. Y. Lee
Laura Masino
Yue A. Qi
Sam Bryce-Smith
Ariana Gatt
Martina Hallegger
Delphine Fagegaltier
Hemali Phatnani
Justin Kwan
Dhruv Sareen
James R. Broach
Zachary Simmons
Ximena Arcila-Londono
Edward B. Lee
Vivianna M. Van Deerlin
Neil A. Shneider
Ernest Fraenkel
Lyle W. Ostrow
Frank Baas
Noah Zaitlen
James D. Berry
Andrea Malaspina
Pietro Fratta
Gregory A. Cox
Leslie M. Thompson
Steve Finkbeiner
Efthimios Dardiotis
Timothy M. Miller
Siddharthan Chandran
Suvankar Pal
Eran Hornstein
Daniel J. MacGowan
Terry Heiman-Patterson
Molly G. Hammell
Nikolaos. A. Patsopoulos
Oleg Butovsky
Joshua Dubnau
Avindra Nath
Robert Bowser
Matthew Harms
Eleonora Aronica
Mary Poss
Jennifer Phillips-Cremins
John Crary
Nazem Atassi
Dale J. Lange
Darius J. Adams
Leonidas Stefanis
Marc Gotkine
Robert H. Baloh
Suma Babu
Towfique Raj
Sabrina Paganoni
Ophir Shalem
Colin Smith
Bin Zhang
Brent Harris
Iris Broce
Vivian Drory
John Ravits
Corey McMillan
Vilas Menon
Lani Wu
Steven Altschuler
Yossef Lerner
Rita Sattler
Kendall Van Keuren-Jensen
Orit Rozenblatt-Rosen
Kerstin Lindblad-Toh
Katharine Nicholson
Peter Gregersen
Jeong-Ho Lee
Sulev Kokos
Stephen Muljo
Jia Newcombe
Emil K. Gustavsson
Sahba Seddighi
Joel F. Reyes
Steven L. Coon
Daniel Ramos
Giampietro Schiavo
Elizabeth M. C. Fisher
Maria Secrier
Tammaryn Lashley
Jernej Ule
Emanuele Buratti
Jack Humphrey
Michael E. Ward
Affiliated Authors:
Neil A. Shneider
Matthew Harms
Vilas Menon
Columbia Affiliation:
Subjects:
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia (OpenAlex Topic)
Regulation of RNA Processing and Function (OpenAlex Topic)
Mitochondrial Dynamics and Reactive Oxygen Species Regulation (OpenAlex Topic)
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Publication Type:
Article
Unique ID:
10.1038/s41586-022-04436-3
PMID:
35197628
DOI:
10.1038/s41586-022-04436-3
Journal:
Nature
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View OpenAlex Record

Record Created: