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Article

New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor.

Molecular genetics and metabolism - 1 May 2004

Malvagia Sabrina, Morrone Amelia, Caciotti Anna, Bardelli Tiziana, d'Azzo Alessandra, Ancora Gina, Zammarchi Enrico, Donati Maria Alice

Abstract excerpt

We describe the clinical findings, and the molecular and biochemical studies in an Italian family with recurrent hydrops fetalis due to galactosialidosis (GS). GS is a rare lysosomal storage disorder caused by a deficiency of the protective protein/cathepsin A (PPCA). This protein forms a high-molecular-weight complex with the hydrolases beta-galactosidase (GLB1) and neuraminidase (NEU1). By virtue of this...

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Source

Identifiers

PMID: 15110321
DOI: 10.1016/j.ymgme.2004.02.007

Genes

EBP
GLB1
NEU1

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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