Associated Papers
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort
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
Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.
Rimoldi M et al.
Frontiers in Neurology, 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
Costameric integrin and sarcoglycan protein levels are altered in a Drosophila model for Limb-girdle muscular dystrophy type 2H.
Bawa S et al.
Molecular Biology of the Cell, 2021
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
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
Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population.
Johnson K et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
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
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation.
Neri M et al.
Neuromuscular Disorders : Nmd, 2013
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