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Article

Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.

Acta neuropathologica - 1 Sept 2018

Bennett Craig L, Dastidar Somasish G, Ling Shuo-Chien, Malik Bilal, Ashe Travis, Wadhwa Mandheer, Miller Derek B, Lee Changwoo, Mitchell Matthew B, van Es Michael A, Grunseich Christopher, Chen Yingzhang, Sopher Bryce L, Greensmith Linda, Cleveland Don W, La Spada Albert R

Abstract excerpt

Amyotrophic lateral sclerosis type 4 (ALS4) is a rare, early-onset, autosomal dominant form of ALS, characterized by slow disease progression and sparing of respiratory musculature. Dominant, gain-of-function mutations in the senataxin gene (SETX) cause ALS4, but the mechanistic basis for motor neuron toxicity is unknown. SETX is a RNA-binding protein with a highly conserved helicase domain, but does not possess...

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Identifiers

PMID: 29725819
DOI: 10.1007/s00401-018-1852-9
PMCID: PMC6098723

Genes

SETX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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