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Article

SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation

18 Jul 2020

Abstract excerpt

SETX (senataxin) is an RNA/DNA helicase that has been implicated in transcriptional regulation and the DNA damage response through resolution of R-loop structures. Mutations in SETX result in either of two distinct neurodegenerative disorders. SETX dominant mutations result in a juvenile form of amyotrophic lateral sclerosis (ALS) called ALS4, whereas recessive mutations are responsible for ataxia called ataxia...

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PMID: 32686621
DOI: 10.1080/15548627.2020.1796292

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