ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis.

Alström Syndrome (ALMS) is a rare genetic disorder (483 living cases), characterized by many clinical manifestations, including blindness, obesity, type 2 diabetes and cardiomyopathy. ALMS is caused by mutations in the ALMS1 gene, encoding for a large protein with implicated roles in ciliary functio...

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Main Authors: Elisabetta Zulato, Francesca Favaretto, Caterina Veronese, Stefano Campanaro, Jan D Marshall, Sara Romano, Anna Cabrelle, Gayle B Collin, Barbara Zavan, Anna S Belloni, Enrica Rampazzo, Jürgen K Naggert, Giovanni Abatangelo, Nicola Sicolo, Pietro Maffei, Gabriella Milan, Roberto Vettor
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-04-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3082548?pdf=render