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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

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TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.

Kumarasinghe Lorena L   Xiong Lu L   Garcia-Gimeno Maria Adelaida MA   Lazzari Elisa E   Sanz Pascual P   Meroni Germana G  

Cells 20210406 4


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  ...[more]

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