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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2021-04-01
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| Online Access: | https://www.mdpi.com/2073-4409/10/4/820 |
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doaj-c815fbb01cd24f80a391a11af3de43a62021-04-06T23:03:11ZengMDPI AGCells2073-44092021-04-011082082010.3390/cells10040820TRIM32 and Malin in Neurological and Neuromuscular Rare DiseasesLorena Kumarasinghe0Lu Xiong1Maria Adelaida Garcia-Gimeno2Elisa Lazzari3Pascual Sanz4Germana Meroni5Instituto de Biomedicina de Valencia, CSIC, Jaime Roig 11, 46010 Valencia, SpainDepartment of Life Sciences, University of Trieste, Building Q, Via L. Giorgieri 5, 34127 Trieste, ItalyDepartment of Biotechnology, Polytechnic University of Valencia, 46022 Valencia, SpainDepartment of Life Sciences, University of Trieste, Building Q, Via L. Giorgieri 5, 34127 Trieste, ItalyInstituto de Biomedicina de Valencia, CSIC, Jaime Roig 11, 46010 Valencia, SpainDepartment of Life Sciences, University of Trieste, Building Q, Via L. Giorgieri 5, 34127 Trieste, ItalyTripartite 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.https://www.mdpi.com/2073-4409/10/4/820TRIM proteinsE3-ligaseTrim32malinubiquitinationLimb-Girdle Muscular Dystrophy |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Lorena Kumarasinghe Lu Xiong Maria Adelaida Garcia-Gimeno Elisa Lazzari Pascual Sanz Germana Meroni |
| spellingShingle |
Lorena Kumarasinghe Lu Xiong Maria Adelaida Garcia-Gimeno Elisa Lazzari Pascual Sanz Germana Meroni TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases Cells TRIM proteins E3-ligase Trim32 malin ubiquitination Limb-Girdle Muscular Dystrophy |
| author_facet |
Lorena Kumarasinghe Lu Xiong Maria Adelaida Garcia-Gimeno Elisa Lazzari Pascual Sanz Germana Meroni |
| author_sort |
Lorena Kumarasinghe |
| title |
TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases |
| title_short |
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_sort |
trim32 and malin in neurological and neuromuscular rare diseases |
| publisher |
MDPI AG |
| series |
Cells |
| issn |
2073-4409 |
| publishDate |
2021-04-01 |
| 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. |
| topic |
TRIM proteins E3-ligase Trim32 malin ubiquitination Limb-Girdle Muscular Dystrophy |
| url |
https://www.mdpi.com/2073-4409/10/4/820 |
| work_keys_str_mv |
AT lorenakumarasinghe trim32andmalininneurologicalandneuromuscularrarediseases AT luxiong trim32andmalininneurologicalandneuromuscularrarediseases AT mariaadelaidagarciagimeno trim32andmalininneurologicalandneuromuscularrarediseases AT elisalazzari trim32andmalininneurologicalandneuromuscularrarediseases AT pascualsanz trim32andmalininneurologicalandneuromuscularrarediseases AT germanameroni trim32andmalininneurologicalandneuromuscularrarediseases |
| _version_ |
1721537151755091968 |