Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice

By Weihl Conrad C.   Miller Sara E.   Hanson Phyllis I.   Pestronk Alan  

Human Molecular Genetics, Vol. 16, Iss. 8, 2007-04 ,pp. : 919-928

Oxford University Press

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Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy

By Yi Ling   Donsante Anthony   Kennerson Marina L.   Mercer Julian F.B.   Garbern James Y.   Kaler Stephen G.  

Human Molecular Genetics, Vol. 21, Iss. 8, 2012-04 ,pp. : 1794-1807

Oxford University Press

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Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation

By Weihl Conrad C.   Dalal Seema   Pestronk Alan   Hanson Phyllis I.  

Human Molecular Genetics, Vol. 15, Iss. 2, 2006-01 ,pp. : 189-199

Oxford University Press

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Mitochondrial processes are impaired in hereditary inclusion body myopathy

By Eisenberg Iris   Novershtern Noa   Itzhaki Zohar   Becker-Cohen Michal   Sadeh Menachem   Willems Peter H.G.M.   Friedman Nir   Koopman Werner J.H.   Mitrani-Rosenbaum Stella  

Human Molecular Genetics, Vol. 17, Iss. 23, 2008-12 ,pp. : 3663-3674

Oxford University Press

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Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency

By Ottenheijm Coen A.C.   Witt Christian C.   Stienen Ger J.   Labeit Siegfried   Beggs Alan H.   Granzier Henk  

Human Molecular Genetics, Vol. 18, Iss. 13, 2009-07 ,pp. : 2359-2369

Oxford University Press

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