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Article

All reported non-canonical splice site variants in GLA cause aberrant splicing.

Clinical and experimental nephrology - 1 Sept 2023

Okada Eri, Horinouchi Tomoko, Yamamura Tomohiko, Aoto Yuya, Suzuki Ryota, Ichikawa Yuta, Tanaka Yu, Masuda Chika, Kitakado Hideaki, Kondo Atsushi, Sakakibara Nana, Ishiko Shinya, Nagano China, Ishimori Shingo, Usui Joichi, Yamagata Kunihiro, Matsuo Masafumi, Nozu Kandai

Abstract excerpt

BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by insufficient α-galactosidase A (GLA) activity resulting from variants in the GLA gene, which leads to glycosphingolipid accumulation and life-threatening, multi-organ complications. Approximately 50 variants have been reported that cause splicing abnormalities in GLA. Most were found within canonical splice sites, which are highly...

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Identifiers

PMID: 37254000
DOI: 10.1007/s10157-023-02361-x
PMCID: PMC10432374

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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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