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Article

Carboxyl-terminal truncations alter the activity of the human α-galactosidase A.

PloS one - 1 Jan 2015

Meghdari Mariam, Gao Nicholas, Abdullahi Abass, Stokes Erin, Calhoun David H

Abstract excerpt

Fabry disease is an X-linked inborn error of glycolipid metabolism caused by deficiency of the human lysosomal enzyme, α-galactosidase A (αGal), leading to strokes, myocardial infarctions, and terminal renal failure, often leading to death in the fourth or fifth decade of life. The enzyme is responsible for the hydrolysis of terminal α-galactoside linkages in various glycolipids. Enzyme replacement therapy (ERT)...

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Identifiers

PMID: 25719393
DOI: 10.1371/journal.pone.0118341
PMCID: PMC4342250

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Source receipt: pubmed, retrieved 7 Sept 2026.

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