Associated Papers
Correction: Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.
Liang X et al.
Acta Neuropathologica Communications, 2025
Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.
Liang X et al.
Acta Neuropathologica Communications, 2025
The TRIM32 geno-phenotype spectrum: a literature review and 25-year clinical follow-up of two brothers living with sarcotubular myopathy.
Caputo M et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2024
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
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
Tripartite motif-containing protein 32 regulates Ca2+ movement in skeletal muscle.
Choi JH et al.
American Journal of Physiology. Cell Physiology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Myoneuropathic presentation of limb girdle muscular dystrophy R8 with a novel TRIM32 mutation.
Chandrasekharan SV et al.
Neuromuscular Disorders : Nmd, 2021
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
Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis.
Marchuk M et al.
Brain 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
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
Generation of the short TRIM32 isoform is regulated by Lys 247 acetylation and a PEST sequence.
Garcia-Garcia J et al.
Plos One, 2021
Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
Babić Božović I et al.
Plos One, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 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
Absence of TRIM32 Leads to Reduced GABAergic Interneuron Generation and Autism-like Behaviors in Mice via Suppressing mTOR Signaling.
Zhu JW et al.
Cerebral Cortex (new York, N.y. : 1991), 2020
TRIM E3 Ubiquitin Ligases in Rare Genetic Disorders.
Meroni G
Advances in Experimental Medicine and Biology, 2020
TRIM32, but not its muscular dystrophy-associated mutant, positively regulates and is targeted to autophagic degradation by p62/SQSTM1.
Overå KS et al.
Journal of Cell Science, 2019
A TRIM32-AMBRA1-ULK1 complex initiates the autophagy response in atrophic muscle cells.
Di Rienzo M et al.
Autophagy, 2019
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
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.
Servián-Morilla E et al.
Acta Neuropathologica Communications, 2019
Novel TRIM32 mutation in sarcotubular myopathy.
Panicucci C et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2019
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Del-Toro N et al.
Nature Communications, 2019
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
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
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.
Triggs-Raine B et al.
Molecular Genetics & Genomic Medicine, 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
Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data.
Schrodi SJ et al.
Human Genetics, 2015
The E3 ubiquitin ligase TRIM32 regulates myoblast proliferation by controlling turnover of NDRG2.
Mokhonova EI et al.
Human Molecular Genetics, 2015
Genetic basis of limb-girdle muscular dystrophies: the 2014 update.
Nigro V et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2014
Interaction with the Bardet-Biedl gene product TRIM32/BBS11 modifies the half-life and localization of Glis2/NPHP7.
Ramachandran H et al.
The Journal of Biological Chemistry, 2014
A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.
Elliott AM et al.
Journal of Medical Genetics, 2013
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Bögershausen N et al.
American Journal of Human Genetics, 2013
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
Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite.
Liewluck T et al.
Neuromuscular Disorders : Nmd, 2013
A population-based study of autosomal-recessive disease-causing mutations in a founder population.
Chong JX et al.
American Journal of Human Genetics, 2012
Ubiquitylation by Trim32 causes coupled loss of desmin, Z-bands, and thin filaments in muscle atrophy.
Cohen S et al.
The Journal of Cell Biology, 2012