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TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases

6 Apr 2021

Abstract excerpt

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,...

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PMID: 33917450
DOI: 10.3390/cells10040820

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