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Article

4-Phenylbutyrate rescues trafficking incompetent mutant alpha-galactosidase A without restoring its functionality.

Biochemical and biophysical research communications - 24 Aug 2007

Yam Gary Hin-Fai, Roth Jürgen, Zuber Christian

Abstract excerpt

Fabry disease is a lysosomal storage disorder caused by deficiency of alpha-galactosidase A. Most mutant enzyme is catalytically active but due to misfolding retained in the endoplasmic reticulum. We have tested 4-phenylbutyrate for its potential to rescue various trafficking incompetent mutant alpha-galactosidase A. Although we found that the trafficking blockade for endoplasmic reticulum-retained mutant...

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Identifiers

PMID: 17592721
DOI: 10.1016/j.bbrc.2007.06.048

Provenance

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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