TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases

Cells. 2021 Apr 6;10(4):820. doi: 10.3390/cells10040820.


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.

Keywords: E3-ligase; Lafora disease; Limb-Girdle Muscular Dystrophy; TRIM proteins; Trim32; malin; rare diseases; ubiquitination.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Humans
  • Nervous System Diseases / metabolism*
  • Nervous System Diseases / physiopathology
  • Neuromuscular Diseases / metabolism*
  • Neuromuscular Diseases / physiopathology
  • Rare Diseases / metabolism*
  • Rare Diseases / physiopathology
  • Signal Transduction
  • Tripartite Motif Proteins / chemistry
  • Tripartite Motif Proteins / metabolism*
  • Ubiquitin-Protein Ligases / chemistry
  • Ubiquitin-Protein Ligases / metabolism*


  • Tripartite Motif Proteins
  • Ubiquitin-Protein Ligases