TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases

Kumarasinghe, Lorena; Xiong, Lu; Garcia-Gimeno, Maria Adelaida; Lazzari, Elisa; Sanz, Pascual; Meroni, Germana

doi:10.3390/cells10040820

Open AccessFeature PaperReview

TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases

by

Lorena Kumarasinghe

^1,†,

Lu Xiong

^2,†,

Maria Adelaida Garcia-Gimeno

³

,

Elisa Lazzari

²

,

Pascual Sanz

^1,4,*

and

Germana Meroni

^2,*

¹

Instituto de Biomedicina de Valencia, CSIC, Jaime Roig 11, 46010 Valencia, Spain

²

Department of Life Sciences, University of Trieste, Building Q, Via L. Giorgieri 5, 34127 Trieste, Italy

³

Department of Biotechnology, Polytechnic University of Valencia, 46022 Valencia, Spain

⁴

Centro de Investigación Biomedica en Red Enfermedades Raras CIBERER-ISCIII, 46010 Valencia, Spain

^*

Authors to whom correspondence should be addressed.

^†

These authors should be regarded as joint first authors.

Cells 2021, 10(4), 820; https://doi.org/10.3390/cells10040820

Submission received: 18 March 2021 / Revised: 1 April 2021 / Accepted: 4 April 2021 / Published: 6 April 2021

(This article belongs to the Special Issue Cellular Function of TRIM E3 Ubiquitin Ligases in Health and Disease)

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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.

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

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MDPI and ACS Style

Kumarasinghe, L.; Xiong, L.; Garcia-Gimeno, M.A.; Lazzari, E.; Sanz, P.; Meroni, G. TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases. Cells 2021, 10, 820. https://doi.org/10.3390/cells10040820

AMA Style

Kumarasinghe L, Xiong L, Garcia-Gimeno MA, Lazzari E, Sanz P, Meroni G. TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases. Cells. 2021; 10(4):820. https://doi.org/10.3390/cells10040820

Chicago/Turabian Style

Kumarasinghe, Lorena, Lu Xiong, Maria Adelaida Garcia-Gimeno, Elisa Lazzari, Pascual Sanz, and Germana Meroni. 2021. "TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases" Cells 10, no. 4: 820. https://doi.org/10.3390/cells10040820

APA Style

Kumarasinghe, L., Xiong, L., Garcia-Gimeno, M. A., Lazzari, E., Sanz, P., & Meroni, G. (2021). TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases. Cells, 10(4), 820. https://doi.org/10.3390/cells10040820

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

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TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases

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