TY  - JOUR
AU  - Servián-Morilla, E.
AU  - Cabrera-Serrano, M.
AU  - Rivas-Infante, E.
AU  - Carvajal, A.
AU  - Lamont, P. J.
AU  - Pelayo-Negro, A. L.
AU  - Ravenscroft, G.
AU  - Junckerstorff, R.
AU  - Dyke, J. M.
AU  - Fletcher, S.
AU  - Adams, A. M.
AU  - Mavillard, F.
AU  - Fernández-García, M. A.
AU  - Nieto-González, J. L.
AU  - Laing, N. G.
AU  - Paradas, C.
PY  - 2019
DO  - 10.1186/s40478-019-0683-9
UR  - http://hdl.handle.net/10668/3168
T2  - Acta Neuropathologica Communications
AB  - 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...
LA  - en
PB  - BioMed Central Ltd.
KW  - Muscle dystrophy
KW  - TRIM32
KW  - E3 ubiquitin-ligase
KW  - Proliferation/differentiation
KW  - Autophagy
KW  - Muscular dystrophies
KW  - Distrofias musculares
KW  - Cell proliferation
KW  - Proliferación celular
KW  - Cell differentiation
KW  - Diferenciación celular
KW  - Autofagia
KW  - Medical Subject Headings::Anatomy::Cells::Cells, Cultured
KW  - Medical Subject Headings::Check Tags::Female
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Check Tags::Male
KW  - Medical Subject Headings::Phenomena and Processes::Musculoskeletal and Neural Physiological Phenomena::Musculoskeletal Physiological Phenomena::Musculoskeletal Physiological Processes::Musculoskeletal Development::Muscle Development
KW  - Medical Subject Headings::Diseases::Musculoskeletal Diseases::Muscular Diseases
KW  - Medical Subject Headings::Anatomy::Cells::Stem Cells::Myoblasts
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Pedigree
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Transcription Factors
KW  - Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Ligases::Ubiquitin-Protein Ligase Complexes::Ubiquitin-Protein Ligases
KW  - Medical Subject Headings::Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Cell Growth Processes::Cell Proliferation
KW  - Medical Subject Headings::Diseases::Musculoskeletal Diseases::Muscular Diseases::Muscular Disorders, Atrophic::Muscular Dystrophies
KW  - Medical Subject Headings::Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Cell Death::Autophagy
TI  - Altered myogenesis and premature senescence underlie human TRIM32-related myopathy
TY  - research article
ER  -