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Article

Rescue of mutant alpha-galactosidase A in the endoplasmic reticulum by 1-deoxygalactonojirimycin leads to trafficking to lysosomes.

Biochimica et biophysica acta - 1 Jun 2008

Hamanaka Ryoji, Shinohara Tetsuji, Yano Shinji, Nakamura Miki, Yasuda Aiko, Yokoyama Shigeo, Fan Jian-Qiang, Kawasaki Kunito, Watanabe Makoto, Ishii Satoshi

Abstract excerpt

Active-site-specific chaperone therapy for Fabry disease is a genotype-specific therapy using a competitive inhibitor, 1-deoxygalactonojirimycin (DGJ). To elucidate the mechanism of enhancing alpha-galactosidase A (alpha-Gal A) activity by DGJ-treatment, we studied the degradation of a mutant protein and the effect of DGJ in the endoplasmic reticulum (ER). We first established an in vitro translation and...

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Identifiers

PMID: 18381081
DOI: 10.1016/j.bbadis.2008.03.001

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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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