TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.

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.

SUBMITTER: Kumarasinghe L 

PROVIDER: S-EPMC8067510 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature