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
TRIM22 functions as a scaffold protein for autophagy initiation.
Park H et al.
Animal Cells and Systems, 2025
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
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.
Rimoldi M et al.
Frontiers in Neurology, 2023
Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: Past, present and future.
Chandra B et al.
Progress in Retinal and Eye Research, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
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
Generation of the short TRIM32 isoform is regulated by Lys 247 acetylation and a PEST sequence.
Garcia-Garcia J et al.
Plos One, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
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
Cancer-associated mutation abolishes the impact of TRIM21 on the invasion of breast cancer cells.
Jin Y et al.
International Journal of Biological Macromolecules, 2020
TRIM E3 Ubiquitin Ligases in Rare Genetic Disorders.
Meroni G
Advances in Experimental Medicine and Biology, 2020
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
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
Analysis of the Zn-Binding Domains of TRIM32, the E3 Ubiquitin Ligase Mutated in Limb Girdle Muscular Dystrophy 2H.
Lazzari E et al.
Cells, 2019
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
Structural determinants of TRIM protein function.
Esposito D et al.
Biochemical Society Transactions, 2017
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
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 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
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
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
Zaghloul NA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.
Borg K et al.
Human Mutation, 2009
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
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).
Chiang AP et al.
Proceedings of the National Academy of Sciences of the United States of America, 2006