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TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases

Kumarasinghe, Lorena
•
Xiong, Lu
•
Garcia-Gimeno, Maria Adelaida
altro
Meroni, Germana
2021
  • journal article

Periodico
CELLS
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.
DOI
10.3390/cells10040820
WOS
WOS:000642858400001
Archivio
http://hdl.handle.net/11368/2989691
info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105129552
https://www.mdpi.com/2073-4409/10/4/820
Diritti
open access
license:creative commons
license:creative commons
license uri:http://creativecommons.org/licenses/by/4.0/
license uri:http://creativecommons.org/licenses/by/4.0/
FVG url
https://arts.units.it/bitstream/11368/2989691/2/cells-10-00820-v2.pdf
Soggetti
  • E3-ligase

  • Lafora disease

  • Limb-Girdle Muscular ...

  • TRIM protein

  • Trim32

  • malin

  • rare disease

  • ubiquitination

Scopus© citazioni
1
Data di acquisizione
Jun 14, 2022
Vedi dettagli
Web of Science© citazioni
9
Data di acquisizione
Mar 6, 2024
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