TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases

Cells

MariaAdelaida Garcia-Gimeno¹  Elisa Lazzari²  Lu Xiong²  Germana Meroni²  Pascual Sanz³  Lorena Kumarasinghe³ 

[1] Department of Biotechnology, Polytechnic University of Valencia, 46022 Valencia, Spain;Department of Life Sciences, University of Trieste, Building Q, Via L. Giorgieri 5, 34127 Trieste, Italy;Instituto de Biomedicina de Valencia, CSIC, Jaime Roig 11, 46010 Valencia, Spain;

关键词: TRIM proteins;    E3-ligase;    Trim32;    malin;    ubiquitination;    Limb-Girdle Muscular Dystrophy;   

DOI  :  10.3390/cells10040820

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown