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Article

Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.

Human genetics - 1 Mar 1999

Ellis J A, Yates J R, Kendrick-Jones J, Brown C A

Abstract excerpt

Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive muscular dystrophy characterized by early contractures of the elbows, Achilles tendons and spine, slowly progressive muscle wasting and weakness, and cardiomyopathy associated with cardiac conduction defects. The emerin gene has been mapped to Xq28 and encodes a 34-kDa serine-rich protein, emerin, which has been localized to the nuclear envelope in...

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Source

Identifiers

PMID: 10323252
DOI: 10.1007/s004390050946

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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.

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Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.PMID 10323252Read ↗

Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.Semantic proximity Read ↗

Muscular Dystrophy Mutations Impair the Nuclear Envelope Emerin Self-assembly Properties.Semantic proximity Read ↗

Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expression.Semantic proximity Read ↗

Emerin in health and disease.Semantic proximity Read ↗

Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane.Semantic proximity Read ↗

Distinct functional domains in nesprin-1alpha and nesprin-2beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Multiple and surprising new functions for emerin, a nuclear membrane protein.Semantic proximity Read ↗

The role of the nuclear envelope in Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiencySemantic proximity Read ↗

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