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10.1016/j.nmd.2014.12.002 http://scihub22266oqcxt.onion/10.1016/j.nmd.2014.12.002 C4355324!4355324!25557463     free     free     free Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\25557463.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Neuromuscul+Disord 2015 ; 25 (3): 199-206 Nephropedia Template TP {{tp|p=25557463|t=2015. Autophagic Vacuolar Pathology in Desminopathies |pdf=|usr=}}{{25557463}} gab.com Text Autophagic Vacuolar Pathology in Desminopathies JO: Neuromuscul Disord http://www.kidney.de/pget.php?&tw=1&pmid=25557463 #FOAvip Autophagic vacuolar myopathies (AVMs) are an emerging group of muscle diseases with common pathologic features. These include autophagic vacuoles containing both lysosomal and autophagosomal proteins sometimes lined with sarcolemmal proteins such as dystrophin. These features have been most clearly described in patients with Danon?s disease due to LAMP2 deficiency and X-linked myopathy with excessive autophagy (XMEA) due to mutations in VMA21. Disruptions of these proteins lead to lysosomal dysfunction and subsequent autophagic vacuolar pathology. We performed whole exome sequencing on two families with autosomal dominantly inherited myopathies with autophagic vacuolar pathology and surprisingly identified a p.R454W tail domain mutation and a novel p.S6W head domain mutation in desmin, DES. In addition, re-evaluation of muscle tissue from another family with a novel p.I402N missense DES mutation also identified autophagic vacuoles. We suggest that autophagic vacuoles may be an underappreciated pathology present in desminopathy patient muscle. Moreover, autophagic vacuolar pathology can be due to genetic etiologies unrelated to primary defects in the lysosomes or autophagic machinery. Specifically, cytoskeletal derangement and the accumulation of aggregated proteins such as desmin may activate the autophagic system leading to the pathologic features of an AVM. Twit Text FOAVip Autophagic Vacuolar Pathology in Desminopathies ????Neuromuscul Disord http://www.kidney.de/pget.php?&tw=1&pmid=25557463 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25557463 #FOAvip English Wikipedia <ref>{{Cite pmid|25557463}}</ref> Autophagic Vacuolar Pathology in Desminopathies #MMPMID25557463 Weihl CC; Iyadurai S; Baloh RH; Pittman SK; Schmidt RE; Lopate G; Pestronk A; Harms MB Neuromuscul Disord 2015[Mar]; 25 (3): 199-206 PMID25557463show ga Autophagic vacuolar myopathies (AVMs) are an emerging group of muscle diseases with common pathologic features. These include autophagic vacuoles containing both lysosomal and autophagosomal proteins sometimes lined with sarcolemmal proteins such as dystrophin. These features have been most clearly described in patients with Danon?s disease due to LAMP2 deficiency and X-linked myopathy with excessive autophagy (XMEA) due to mutations in VMA21. Disruptions of these proteins lead to lysosomal dysfunction and subsequent autophagic vacuolar pathology. We performed whole exome sequencing on two families with autosomal dominantly inherited myopathies with autophagic vacuolar pathology and surprisingly identified a p.R454W tail domain mutation and a novel p.S6W head domain mutation in desmin, DES. In addition, re-evaluation of muscle tissue from another family with a novel p.I402N missense DES mutation also identified autophagic vacuoles. We suggest that autophagic vacuoles may be an underappreciated pathology present in desminopathy patient muscle. Moreover, autophagic vacuolar pathology can be due to genetic etiologies unrelated to primary defects in the lysosomes or autophagic machinery. Specifically, cytoskeletal derangement and the accumulation of aggregated proteins such as desmin may activate the autophagic system leading to the pathologic features of an AVM. äAutophagic Vacuolar Pathology in Desminopathies (epmc).pdf DeepDyve Pubget Overpricing