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10.1242/jcs.175927 http://scihub22266oqcxt.onion/10.1242/jcs.175927 C4852766!4852766 !26945058     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=26945058 &cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215       J+Cell+Sci 2016 ; 129 (8 ): 1671-84 Nephropedia Template TP {{tp|p=26945058 |t=2016. Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy |pdf=|usr=}}{{26945058 }} gab.com Text Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy JO: J Cell Sci http://www.kidney.de/pget.php?&tw=1&pmid=26945058 #FOAvip 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 defects and these metabolic circuits remains unknown. To unravel the expression profiling perturbation in muscles with collagen VI myopathies, we performed a deep RNA profiling in both Col6a1(-/-)mice and patients with collagen VI pathology. The interactome map identified common pathways suggesting a previously undetected connection between circadian genes and collagen VI pathology. Intriguingly, Bmal1(-/-)(also known as Arntl) mice, a well-characterized model displaying arrhythmic circadian rhythms, showed profound deregulation of the collagen VI pathway and of autophagy-related genes. The involvement of circadian rhythms in collagen VI myopathies is new and links autophagy and mitochondrial abnormalities. It also opens new avenues for therapies of hereditary myopathies to modulate the molecular clock or potential gene-environment interactions that might modify muscle damage pathogenesis. Twit Text FOAVip Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy ????J Cell Sci http://www.kidney.de/pget.php?&tw=1&pmid=26945058 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26945058 #FOAvip English Wikipedia <ref>{{Cite pmid|26945058 }}</ref> Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy #MMPMID26945058 Scotton C ; Bovolenta M ; Schwartz E ; Falzarano MS ; Martoni E ; Passarelli C ; Armaroli A ; Osman H ; Rodolico C ; Messina S ; Pegoraro E ; D'Amico A ; Bertini E ; Gualandi F ; Neri M ; Selvatici R ; Boffi P ; Maioli MA ; Lochmüller H ; Straub V ; Bushby K ; Castrignanò T ; Pesole G ; Sabatelli P ; Merlini L ; Braghetta P ; Bonaldo P ; Bernardi P ; Foley R ; Cirak S ; Zaharieva I ; Muntoni F ; Capitanio D ; Gelfi C ; Kotelnikova E ; Yuryev A ; Lebowitz M ; Zhang X ; Hodge BA ; Esser KA ; Ferlini A J Cell Sci 2016[Apr]; 129 (8 ): 1671-84 PMID26945058 show ga 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 defects and these metabolic circuits remains unknown. To unravel the expression profiling perturbation in muscles with collagen VI myopathies, we performed a deep RNA profiling in both Col6a1(-/-)mice and patients with collagen VI pathology. The interactome map identified common pathways suggesting a previously undetected connection between circadian genes and collagen VI pathology. Intriguingly, Bmal1(-/-)(also known as Arntl) mice, a well-characterized model displaying arrhythmic circadian rhythms, showed profound deregulation of the collagen VI pathway and of autophagy-related genes. The involvement of circadian rhythms in collagen VI myopathies is new and links autophagy and mitochondrial abnormalities. It also opens new avenues for therapies of hereditary myopathies to modulate the molecular clock or potential gene-environment interactions that might modify muscle damage pathogenesis. |ARNTL Transcription Factors/*genetics [MESH] |Animals [MESH] |Autophagy/genetics [MESH] |Circadian Clocks/*physiology [MESH] |Collagen Type VI/*genetics [MESH] |Contracture/*genetics [MESH] |Gene Expression Profiling [MESH] |Humans [MESH] |Mice [MESH] |Mice, Knockout [MESH] |Microarray Analysis [MESH] |Mitochondria/*physiology [MESH] |Muscular Dystrophies/*congenital/genetics [MESH] |Mutation/*genetics [MESH] |RNA/analysis [MESH]Deep RNA profiling identified CLOCK and molecular clock genes as pat(epmc).pdf DeepDyve Pubget Overpricing