Alternatively spliced ELAVL3 cryptic exon 4a causes ELAVL3 downregulation in ALS TDP-43 proteinopathy
Author:
Funder
Center for Scientific Review
Target ALS
FightMND
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00401-024-02732-y.pdf
Reference10 articles.
1. Brown AL, Wilkins OG, Keuss MJ, Hill SE, Zanovello M, Lee WC et al (2022) TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Nature 603:131–137
2. Diaz-Garcia S, Ko VI, Vazquez-Sanchez S, Chia R, Arogundade OA, Rodriguez MJ et al (2021) Nuclear depletion of RNA binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis. Acta Neuropathol 142:985–1001
3. Klim JR, Williams LA, Limone F, Guerra San Juan I, Davis-Dusenbery BN, Mordes DA et al (2019) ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair. Nat Neurosci 22:167–179
4. Ling JP, Pletnikova O, Troncoso JC, Wong PC (2015) TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD. Science (80-) 349:650–655
5. Ma XR, Prudencio M, Koike Y, Vatsavayai SC, Kim G, Harbinski F et al (2022) TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A. Nature 603:124–130
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