Translation of dipeptide repeat proteins in C9ORF72 ALS/FTD through unique and redundant AUG initiation codons

Translation of dipeptide repeat proteins in C9ORF72 ALS/FTD through unique and redundant AUG initiation codons

A hexanucleotide repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). A hallmark of ALS/FTD pathology is the presence of dipeptide repeat (DPR) proteins, produced from both sense GGGGCC (poly-GA, poly-GP, poly-GR) and...

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Bibliographic Details
Main Authors: Yoshifumi Sonobe, Soojin Lee, Gopinath Krishnan, Yuanzheng Gu, Deborah Y Kwon, Fen-Biao Gao, Raymond P Roos, Paschalis Kratsios
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2023-09-01
Series:eLife
Subjects:
C9ORF72
amyotrophic lateral sclerosis
frontotemporal dementia
dipeptide protein repeats
iPSC-derived neurons
AUG initiation codons
Online Access:https://elifesciences.org/articles/83189

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