TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases

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...

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Autores principales: Kumarasinghe, Lorena, Xiong, Lu, Garcia-Gimeno, Maria Adelaida, Lazzari, Elisa, Sanz, Pascual, Meroni, Germana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8067510/
https://www.ncbi.nlm.nih.gov/pubmed/33917450
http://dx.doi.org/10.3390/cells10040820
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author Kumarasinghe, Lorena
Xiong, Lu
Garcia-Gimeno, Maria Adelaida
Lazzari, Elisa
Sanz, Pascual
Meroni, Germana
author_facet Kumarasinghe, Lorena
Xiong, Lu
Garcia-Gimeno, Maria Adelaida
Lazzari, Elisa
Sanz, Pascual
Meroni, Germana
author_sort Kumarasinghe, Lorena
collection PubMed
description 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.
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spelling pubmed-80675102021-04-25 TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases Kumarasinghe, Lorena Xiong, Lu Garcia-Gimeno, Maria Adelaida Lazzari, Elisa Sanz, Pascual Meroni, Germana Cells Review 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. MDPI 2021-04-06 /pmc/articles/PMC8067510/ /pubmed/33917450 http://dx.doi.org/10.3390/cells10040820 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Kumarasinghe, Lorena
Xiong, Lu
Garcia-Gimeno, Maria Adelaida
Lazzari, Elisa
Sanz, Pascual
Meroni, Germana
TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases
title TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases
title_full TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases
title_fullStr TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases
title_full_unstemmed TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases
title_short TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases
title_sort trim32 and malin in neurological and neuromuscular rare diseases
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8067510/
https://www.ncbi.nlm.nih.gov/pubmed/33917450
http://dx.doi.org/10.3390/cells10040820
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