Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

Abstract TRIM32 is a E3 ubiquitin -ligase containing RING, B-box, coiled-coil and six C-terminal NHL domains. Mutations involving NHL and coiled-coil domains result in a pure myopathy (LGMD2H/STM) while the only described mutation in the B-box domain is associated with a multisystemic disorder witho...

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Bibliographic Details
Main Authors: E. Servián-Morilla, M. Cabrera-Serrano, E. Rivas-Infante, A. Carvajal, P. J. Lamont, A. L. Pelayo-Negro, G. Ravenscroft, R. Junckerstorff, J. M. Dyke, S. Fletcher, A. M. Adams, F. Mavillard, M. A. Fernández-García, J. L. Nieto-González, N. G. Laing, C. Paradas
Format: Article
Language:English
Published: BMC 2019-03-01
Series:Acta Neuropathologica Communications
Subjects:
Muscle dystrophy
TRIM32
E3 ubiquitin -ligase
Proliferation/differentiation
Autophagy
Online Access:http://link.springer.com/article/10.1186/s40478-019-0683-9

Internet

http://link.springer.com/article/10.1186/s40478-019-0683-9

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