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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 f...

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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 4 Sept 2026. Prepared record publication-17994549-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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

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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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