Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

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 without myopat...

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Udgivet i:Acta Neuropathol Commun
Main Authors: Servián-Morilla, E., Cabrera-Serrano, M., Rivas-Infante, E., Carvajal, A., Lamont, P. J., Pelayo-Negro, A. L., Ravenscroft, G., Junckerstorff, R., Dyke, J. M., Fletcher, S., Adams, A. M., Mavillard, F., Fernández-García, M. A., Nieto-González, J. L., Laing, N. G., Paradas, C.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2019
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6396567/
https://ncbi.nlm.nih.gov/pubmed/30823891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-019-0683-9
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