C9ORF72 poly-PR disrupts expression of ALS/FTD-implicated STMN2 through SRSF7

C9ORF72 poly-PR disrupts expression of ALS/FTD-implicated STMN2 through SRSF7

Abstract A hexanucleotide repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and combined ALS/FTD. The repeat is transcribed in the sense and the antisense directions to produce several dipeptide repeat proteins (DPRs)...

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Bibliographic Details
Main Authors: Karen S. Wang, Julie Smeyers, Kevin Eggan, Bogdan Budnik, Daniel A. Mordes
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Acta Neuropathologica Communications
Online Access:https://doi.org/10.1186/s40478-025-01977-2
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