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Article

Genetic mutations in RNA-binding proteins and their roles in ALS.

Human genetics - 1 Sept 2017

Kapeli Katannya, Martinez Fernando J, Yeo Gene W

Abstract excerpt

Mutations in genes that encode RNA-binding proteins (RBPs) have emerged as critical determinants of neurological diseases, especially motor neuron disorders such as amyotrophic lateral sclerosis (ALS). RBPs are involved in all aspects of RNA processing, controlling the life cycle of RNAs from synthesis to degradation. Hallmark features of RBPs in neuron dysfunction include misregulation of RNA processing,...

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Identifiers

PMID: 28762175
DOI: 10.1007/s00439-017-1830-7
PMCID: PMC5602095

Genes

EWSR1
FUS
TAF15

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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