Primary and Secondary Elastin-Binding Protein Defect Leads to Impaired Elastogenesis in Fibroblasts from GM1-Gangliosidosis Patients-Reference-Cited by-同舟云学术

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Primary and Secondary Elastin-Binding Protein Defect Leads to Impaired Elastogenesis in Fibroblasts from GM1-Gangliosidosis Patients

Published:2005-12 Issue:6 Volume:167 Page:1689-1698
ISSN:0002-9440
Container-title:The American Journal of Pathology
language:en
Short-container-title:The American Journal of Pathology

Author:

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

Publisher

Elsevier BV

Subject

Pathology and Forensic Medicine

Reference31 articles.

1. Alternative splicing of β-galactosidase mRNA generates the classic lysosomal enzyme and a β-galactosidase-related protein;Morreau;J Biol Chem,1989

2. Biological roles of the non-integrin elastin/laminin receptor;Hinek;Biol Chem,1996

3. The 67kDa enzymatically inactive alternatively spliced variant of β-galactosidase is identical to the elastin/laminin-binding protein;Privitera;J Biol Chem,1998

4. Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man;d'Azzo;Proc Natl Acad Sci USA,1982

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4. Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency;Journal of Medical Genetics;2021-03-18

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