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Article

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

Human mutation - 1 Feb 2008

Saccone Valentina, Palmieri Michela, Passamano Luigia, Piluso Giulio, Meroni Germana, Politano Luisa, Nigro Vincenzo

Abstract excerpt

TRIM32 belongs to a large family of proteins characterized by a tripartite motif, possibly involved in the ubiquitination process, acting as an E3 ligase. In addition, TRIM32 has six NHL repeats with putative interaction properties. A homozygous mutation at the third NHL repeat (D487N) has been found in patients with limb girdle muscular dystrophy 2H (LGMD2H). This mutation was only identified in the inbred...

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Source

Identifiers

PMID: 17994549
DOI: 10.1002/humu.20633

Genes

TRIM32

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.PMID 17994549Read ↗

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.Semantic proximity Read ↗

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.Semantic proximity Read ↗

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

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

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.Semantic proximity Read ↗

Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.Semantic proximity Read ↗

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A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation.Semantic proximity Read ↗

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

Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I.Semantic proximity Read ↗

TRIM32 is an E3 ubiquitin ligase for dysbindin.Semantic proximity Read ↗

Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin.Semantic proximity Read ↗

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