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Article

Role of the p.E66Q variant of GLA in the progression of chronic kidney disease.

Clinical and experimental nephrology - 1 Apr 2015

Watanabe Hirofumi, Goto Shin, Miyashita Akinori, Maruyama Hiroki, Wakasugi Minako, Yokoseki Akio, Kuwano Ryozo, Narita Ichiei

Abstract excerpt

BACKGROUND: The p.E66Q variant of the α-galactosidase A gene (GLA) is frequently found during screening for Fabry disease in dialysis patients in Japan. However, recent reports suggest that the p.E66Q variant is not a disease-causing mutation but is a risk factor for cerebral small-vessel occlusion. To evaluate the role of the p.E66Q in the progression of renal diseases, we performed a genetic association study...

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Share to alpha-Galactosidase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Renal Insufficiency, Chronic

Source

Identifiers

PMID: 24718812
DOI: 10.1007/s10157-014-0969-y

Genes

GLA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Role of the p.E66Q variant of GLA in the progression of chronic kidney disease.PMID 24718812Read ↗

The frequency of Fabry disease with the E66Q variant in the α-galactosidase A gene in Japanese dialysis patients: a case report and a literature review.Semantic proximity Read ↗

High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients.Semantic proximity Read ↗

p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males.Semantic proximity Read ↗

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