TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.

Lorena Kumarasinghe, Lu Xiong, Maria Adelaida Garcia-Gimeno, Elisa Lazzari, Pascual Sanz, Germana Meroni

Cells 2021 Apr 06

filter terms:

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.

Citation

Lorena Kumarasinghe, Lu Xiong, Maria Adelaida Garcia-Gimeno, Elisa Lazzari, Pascual Sanz, Germana Meroni. TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases. Cells. 2021 Apr 06;10(4)