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

Brown, Anna‐Leigh; G. Wilkins, Oscar; J. Keuss, Matthew; E. Hill, Sarah; Zanovello, Matteo; Colleen Lee, Weaverly; Bampton, Alexander; Lee, Flora; Masino, Laura; Qi, Yue; Bryce-Smith, Sam; Gatt, Ariana; Hallegger, Martina; Fagegaltier, Delphine; Phatnani, Hemali; Phatnani, Hemali; Kwan, Justin; Sareen, Dhruv; R. Broach, James; Simmons, Zachary; Arcila-Londono, Ximena; B. Lee, Edward; M. Van Deerlin, Vivianna; A. Shneider, Neil; Fraenkel, Ernest; W. Ostrow, Lyle; Baas, Frank; Zaitlen, Noah; D. Berry, James; Malaspina, Andrea; Fratta, Pietro; A. Cox, Gregory; M. Thompson, Leslie; Finkbeiner, Steven; Dardiotis, Efthimios; M. Miller, Timothy; Chandran, Siddharthan; Pal, Suvankar; Hornstein, Eran; J. MacGowan, Daniel; Heiman‐Patterson, Terry; Hammell, Molly; A. Patsopoulos, Nikolaos; Butovsky, Oleg; Dubnau, Josh; Nath, Avindra; Bowser, Robert; B. Harms, Matthew; Aronica, Eleonora; Poss, Mary; E. Phillips‐Cremins, Jennifer; F. Crary, John; Atassi, Nazem; J. Lange, Dale; J. Adams, Darius; Stefanis, Leonidas; Gotkine, Marc; H. Baloh, Robert; Babu, Suma; Raj, Towfique; Paganoni, Sabrina; Shalem, Ophir; Smith, Colin; Zhang, Bin; T. Harris, Brent; Broce, Iris; E. Drory, Vivian; Ravits, John; T. McMillan, Corey; Menon, Vilas; F. Wu, Lani; J. Altschuler, Steven; Lerner, Yossef; Sattler, Rita; Van Keuren‐Jensen, Kendall; Rozenblatt–Rosen, Orit; Lindblad‐Toh, Kerstin; Nicholson, Katharine; K. Gregersen, Peter; Lee, Jeong‐Ho; Kõks, Sulev; Muljo, Stephen; Newcombe, Jia; K. Gustavsson, Emil; Seddighi, Sahba; F. Reyes, Joel; L. Coon, Steven; M. Ramos, Daniel; Schiavo, Giampietro; Fisher, Elizabeth; Raj, Towfique; Secrier, Maria; Lashley, Tammaryn; Ule, Jernej; Buratti, Emanuele; Humphrey, Jack; E. Ward, Michael; Fratta, Pietro

doi:10.1038/s41586-022-04436-3

Public

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

Published in Nature • Feb 23, 2022

Authors:

Anna‐Leigh Brown

Oscar G. Wilkins

Matthew J. Keuss

Abstract

Abstract Variants of UNC13A , a critical gene for synapse function, increase the risk of amyotrophic lateral sclerosis and frontotemporal dementia 1–3 , two related neurodegenerative diseases defined by mislocalization of the RNA-binding protein TDP-43 4,5 . Here we show that TDP-43 depletion induce...

Subject

Amyotrophic lateral sclerosis

Frontotemporal dementia

Single-nucleotide polymorphism

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