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Article

Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.

Human mutation - 1 Mar 2005

Caciotti Anna, Donati Maria Alice, Boneh Avihu, d'Azzo Alessandra, Federico Antonio, Parini Rossella, Antuzzi Danielas, Bardelli Tiziana, Nosi Daniele, Kimonis Virginia, Zammarchi Enrico, Morrone Amelia

Abstract excerpt

G(M1)-gangliosidosis is a lysosomal storage disorder caused by a deficiency of beta-galactosidase (GLB1). The GLB1 gene gives rise to the GLB1 lysosomal enzyme and to the elastin binding protein (EBP), involved in elastic fiber deposition. GLB1 forms a complex with protective protein cathepsin A (PPCA), alpha neuraminidase (NEU1), and galactosamine 6-sulphate sulfatase (GALNS) inside lysosomes, while EBP binds to...

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Source

Identifiers

PMID: 15714521
DOI: 10.1002/humu.20147

Genes

GLB1
EBP
NEU1
GALNS

Variants

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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