TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.
Cells
; 10(4)2021 04 06.
Article
en En
| MEDLINE
| ID: mdl-33917450
ABSTRACT
Tripartite motif (TRIM) proteins are RING E3 ubiquitin ligases defined by a shared domain structure. Several of them are implicated in rare genetic diseases, and mutations in TRIM32 and TRIM-like malin are associated with Limb-Girdle Muscular Dystrophy R8 and Lafora disease, respectively. These two proteins are evolutionary related, share a common ancestor, and both display NHL repeats at their C-terminus. Here, we revmniew the function of these two related E3 ubiquitin ligases discussing their intrinsic and possible common pathophysiological pathways.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades Raras
/
Ubiquitina-Proteína Ligasas
/
Proteínas de Motivos Tripartitos
/
Enfermedades del Sistema Nervioso
/
Enfermedades Neuromusculares
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Cells
Año:
2021
Tipo del documento:
Article
País de afiliación:
España