TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases

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...

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Detalles Bibliográficos
Autores principales: Kumarasinghe, Lorena, Xiong, Lu, Garcia-Gimeno, Maria Adelaida, Lazzari, Elisa, Sanz, Pascual, Meroni, Germana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8067510/
https://www.ncbi.nlm.nih.gov/pubmed/33917450
http://dx.doi.org/10.3390/cells10040820
Descripción
Sumario: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.

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