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Article

Deficient RNA-editing enzyme ADAR2 in an amyotrophic lateral sclerosis patient with a FUS(P525L) mutation.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Oct 2016

Aizawa Hitoshi, Hideyama Takuto, Yamashita Takenari, Kimura Takashi, Suzuki Naoki, Aoki Masashi, Kwak Shin

Abstract excerpt

Mutations in the fused in sarcoma (FUS) gene can cause amyotrophic lateral sclerosis (ALS), and FUS gene mutations have been reported in sporadic ALS patients with basophilic cytoplasmic inclusions. Deficiency of adenosine deaminase acting on RNA 2 (ADAR2), an enzyme that specifically catalyzes GluA2 Q/R site-editing, has been reported in considerable proportions of spinal motor neurons of the majority of...

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Source

Identifiers

PMID: 27343041
DOI: 10.1016/j.jocn.2015.12.039

Genes

FUS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Deficient RNA-editing enzyme ADAR2 in an amyotrophic lateral sclerosis patient with a FUS(P525L) mutation.PMID 27343041Read ↗

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Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6Semantic proximity Read ↗

Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis.Semantic proximity Read ↗

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Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy.Semantic proximity Read ↗

Pathogenesis of FUS-associated ALS and FTD: insights from rodent modelsSemantic proximity Read ↗

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