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Article

Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4.

Brain : a journal of neurology - 14 Sept 2022

Kannan Annapoorna, Cuartas Juliana, Gangwani Pratik, Branzei Dana, Gangwani Laxman

Abstract excerpt

Mutation in the senataxin (SETX) gene causes an autosomal dominant neuromuscular disorder, amyotrophic lateral sclerosis 4 (ALS4), characterized by degeneration of motor neurons, muscle weakness and atrophy. SETX is an RNA-DNA helicase that mediates resolution of co-transcriptional RNA:DNA hybrids (R-loops). The process of R-loop resolution is essential for the normal functioning of cells, including neurons. The...

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Identifiers

PMID: 35045161
DOI: 10.1093/brain/awab464
PMCID: PMC9536298

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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Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4.PMID 35045161Read ↗

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