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Article

Structural basis of Fabry disease.

Molecular genetics and metabolism - 1 Jan 2000

Garman Scott C, Garboczi David N

Abstract excerpt

Fabry disease is a lysosomal storage disease caused by deficiency in the enzyme alpha-galactosidase (alpha-GAL). To understand the molecular defects responsible for Fabry disease, we have collected more than 190 reported point and stop mutations and mapped them onto a model of human alpha-GAL based on the X-ray structure of the closely related enzyme alpha-N-acetylgalactosaminidase (alpha-NAGAL). The locations of...

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Source

Identifiers

PMID: 12359124
DOI: 10.1016/s1096-7192(02)00151-8

Genes

GAL

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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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