Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations

Mutations in B3GALT6, encoding the galactosyltransferase II (GalT-II) involved in the synthesis of the glycosaminoglycan (GAG) linkage region of proteoglycans (PGs), have recently been associated with a spectrum of connective tissue disorders, including spondyloepimetaphyseal dysplasia with joint la...

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Detalhes bibliográficos

Principais autores:	Marco Ritelli, Nicola Chiarelli, Nicoletta Zoppi, Chiara Dordoni, Stefano Quinzani, Michele Traversa, Marina Venturini, Piergiacomo Calzavara-Pinton, Marina Colombi
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2015-03-01
coleção:	Molecular Genetics and Metabolism Reports
Assuntos:	B3GALT6 GalT-II deficiency Spondyloepimetaphyseal dysplasia with joint laxity type 1 Ehlers–Danlos syndrome Cartilage oligomeric matrix protein Osteopontin
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S2214426914000755
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