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Journal articles
A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
Abstract : BACKGROUND: The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies aimed at understanding functional relationships of interacting proteins in both health and diseases. METHOD: We undertook a large-scale study using two-hybrid screens and a human skeletal-muscle cDNA library to establish a proteome-scale map of protein-protein interactions centered on proteins involved in limb-girdle muscular dystrophies (LGMD). LGMD is a group of more than 20 different neuromuscular disorders that principally affect the proximal pelvic and shoulder girdle muscles.Results and conclusion: The interaction network we unraveled incorporates 1018 proteins connected by 1492 direct binary interactions and includes 1420 novel protein-protein interactions. Computational, experimental and literature-based analyses were performed to assess the overall quality of this network. Interestingly, LGMD proteins were shown to be highly interconnected, in particular indirectly through sarcomeric proteins. In-depth mining of the LGMD-centered interactome identified new candidate genes for orphan LGMDs and other neuromuscular disorders. The data also suggest the existence of functional links between LGMD2B/dysferlin and gene regulation, between LGMD2C/gamma-sarcoglycan and energy control and between LGMD2G/telethonin and maintenance of genome integrity. This dataset represents a valuable resource for future functional investigations.
Cited literature [48 references]
https://www.hal.inserm.fr/inserm-00805816
Contributor : Ed. Bmc Connect in order to contact the contributor
Submitted on : Friday, March 29, 2013 - 7:27:53 AM
Last modification on : Thursday, January 28, 2021 - 3:29:28 AM
Long-term archiving on: : Sunday, June 30, 2013 - 4:00:20 AM
Contributor : Ed. Bmc Connect in order to contact the contributor
Submitted on : Friday, March 29, 2013 - 7:27:53 AM
Last modification on : Thursday, January 28, 2021 - 3:29:28 AM
Long-term archiving on: : Sunday, June 30, 2013 - 4:00:20 AM