TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases

Autor: Lorena Kumarasinghe, Lu Xiong, Maria Adelaida Garcia-Gimeno, Elisa Lazzari, Pascual Sanz, Germana Meroni
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Cells, Vol 10, Iss 4, p 820 (2021)
Druh dokumentu: article
ISSN: 2073-4409
DOI: 10.3390/cells10040820
Popis: 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.
Databáze: Directory of Open Access Journals