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Article

Galactosialidosis: review and analysis of CTSA gene mutations.

Orphanet journal of rare diseases - 2 Aug 2013

Caciotti Anna, Catarzi Serena, Tonin Rodolfo, Lugli Licia, Perez Carmen Rodriguez, Michelakakis Helen, Mavridou Irene, Donati Maria Alice, Guerrini Renzo, d'Azzo Alessandra, Morrone Amelia

Abstract excerpt

BACKGROUND: Mutations in the CTSA gene, that encodes the protective protein/cathepsin A or PPCA, lead to the secondary deficiency of β-galactosidase (GLB1) and neuraminidase 1 (NEU1), causing the lysosomal storage disorder galactosialidosis (GS). Few clinical cases of GS have been reported in the literature, the majority of them belonging to the juvenile/adult group of patients. METHODS: The correct nomenclature...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23915561
DOI: 10.1186/1750-1172-8-114
PMCID: PMC3737020

Genes

CTSA
GLB1
NEU1

Variants

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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