Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy.

doi:10.1242/jcs.175927

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Article

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy.

Journal of cell science - 15 Apr 2016

Scotton Chiara, Bovolenta Matteo, Schwartz Elena, Falzarano Maria Sofia, Martoni Elena, Passarelli Chiara, Armaroli Annarita, Osman Hana, Rodolico Carmelo, Messina Sonia, Pegoraro Elena, D'Amico Adele, Bertini Enrico, Gualandi Francesca, Neri Marcella, Selvatici Rita, Boffi Patrizia, Maioli Maria Antonietta, Lochmüller Hanns, Straub Volker, Bushby Katherine, Castrignanò Tiziana, Pesole Graziano, Sabatelli Patrizia, Merlini Luciano, Braghetta Paola, Bonaldo Paolo, Bernardi Paolo, Foley Reghan, Cirak Sebahattin, Zaharieva Irina, Muntoni Francesco, Capitanio Daniele, Gelfi Cecilia, Kotelnikova Ekaterina, Yuryev Anton, Lebowitz Michael, Zhang Xiping, Hodge Brian A, Esser Karyn A, Ferlini Alessandra

Abstract excerpt

Collagen VI myopathies are genetic disorders caused by mutations in collagen 6 A1, A2 and A3 genes, ranging from the severe Ullrich congenital muscular dystrophy to the milder Bethlem myopathy, which is recapitulated by collagen-VI-null (Col6a1(-/-)) mice. Abnormalities in mitochondria and autophagic pathway have been proposed as pathogenic causes of collagen VI myopathies, but the link between collagen VI...

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PMID: 26945058
DOI: 10.1242/jcs.175927
PMCID: PMC4852766

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CLOCK

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