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Article

Effective clearance of GL-3 in a human iPSC-derived cardiomyocyte model of Fabry disease.

Journal of inherited metabolic disease - 1 Nov 2014

Itier Jean-Michel, Ret Gwénaëlle, Viale Sandra, Sweet Lindsay, Bangari Dinesh, Caron Anne, Le-Gall Françoise, Bénichou Bernard, Leonard John, Deleuze Jean-François, Orsini Cécile

Abstract excerpt

Fabry disease, a rare X-linked α-galactosidase A deficiency, causes progressive lysosomal accumulation of globotriaosylceramide (GL-3) in a variety of cell types. As the disease progresses, renal failure, left ventricular hypertrophy, and strokes may occur. Enzyme replacement therapy (ERT), with recombinant α-galactosidase A, is currently available for use to reduce GL-3 deposits. However, although it improves...

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Identifiers

PMID: 24850378
DOI: 10.1007/s10545-014-9724-5

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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.

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