Varaico: Literature-Extracted Genetic Variants

Gene:TRIM32
Variant:p.D588del1
Back to variants list

TRIM32

NM_012210.4:p.D588del1

Associated Papers

Tripartite Motif-Containing Protein 32 (TRIM32): What Does It Do for Skeletal Muscle?

Jeong SY et al.

Cells, 2023

TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype-phenotype correlation.

Guan Y et al.

Skeletal Muscle, 2023

A novel homozygous exon2 deletion of TRIM32 gene in a Chinese patient with sarcotubular myopathy: A case report and literature review.

Wei XJ et al.

Bosnian Journal of Basic Medical Sciences, 2021

TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.

Kumarasinghe L et al.

Cells, 2021

TRIM32: A Multifunctional Protein Involved in Muscle Homeostasis, Glucose Metabolism, and Tumorigenesis.

Bawa S et al.

Biomolecules, 2021

Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains.

Di Rienzo M et al.

Science Advances, 2019

TRIM32 ubiquitin E3 ligase, one enzyme for several pathologies: From muscular dystrophy to tumours.

Lazzari E et al.

The International Journal of Biochemistry & Cell Biology, 2016

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.

Nectoux J et al.

European Journal of Human Genetics : Ejhg, 2015

The E3 ubiquitin ligase TRIM32 regulates myoblast proliferation by controlling turnover of NDRG2.

Mokhonova EI et al.

Human Molecular Genetics, 2015

The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype.

Kudryashova E et al.

Human Molecular Genetics, 2011

TRIM32 protein sensitizes cells to tumor necrosis factor (TNFα)-induced apoptosis via its RING domain-dependent E3 ligase activity against X-linked inhibitor of apoptosis (XIAP).

Ryu YS et al.

The Journal of Biological Chemistry, 2011

TRIM32 is an E3 ubiquitin ligase for dysbindin.

Locke M et al.

Human Molecular Genetics, 2009

Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component.

Kudryashova E et al.

Human Molecular Genetics, 2009

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

Cossée M et al.

Neuromuscular Disorders : Nmd, 2009

Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.

Saccone V et al.

Human Mutation, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."