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Article

Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

The American journal of pathology - 1 Dec 2005

Caciotti Anna, Donati Maria Alice, Bardelli Tiziana, d'Azzo Alessandra, Massai Graziella, Luciani Luciana, Zammarchi Enrico, Morrone Amelia

Abstract excerpt

G(M1)-gangliosidosis is a lysosomal storage disorder caused by acid beta-galactosidase deficiency. Aside from the lysosomal beta-galactosidase enzyme, the beta-galactosidase gene also encodes the elastin-binding protein (EBP), deficiency in which impairs elastogenesis. Using expression studies and Western blots of COS-1 cells, we identified and characterized four new and two known beta-galactosidase gene...

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Source

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Identifiers

PMID: 16314480
DOI: 10.1016/S0002-9440(10)61251-5
PMCID: PMC1613190

Genes

EBP

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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Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.PMID 16314480Read ↗

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