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Article

Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts.

Brain & development - 1 Feb 2016

Hossain Mohammad Arif, Higaki Katsumi, Shinpo Michiko, Nanba Eiji, Suzuki Yoshiyuki, Ozono Keiichi, Sakai Norio

Abstract excerpt

INTRODUCTION: Galactosialidosis is a rare lysosomal storage disease caused by a combined deficiency of GM1 β-galactosidase (β-gal) and neuraminidase secondary to a defect of a lysosomal enzyme protective protein/cathepsin A (PPCA) and mutation in CTSA gene. Three subtypes are recognized: early infantile, late infantile, and juvenile/adult. There is no specific therapy for patients with galactosialidosis at this...

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Source

Identifiers

PMID: 26259553
DOI: 10.1016/j.braindev.2015.07.006

Genes

CTSA

Provenance

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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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