Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The cell cycle dependent mislocalisation of emerin may contribute to the Emery-Dreifuss muscular dystrophy phenotype.

Journal of cell science - 15 Jan 2002

Fairley Elizabeth A L, Riddell Andrew, Ellis Juliet A, Kendrick-Jones John

Abstract excerpt

Emerin is the nuclear membrane protein defective in X-linked Emery-Dreifuss muscular dystrophy (X-EDMD). The majority of X-EDMD patients have no detectable emerin. However, there are cases that produce mutant forms of emerin, which can be used to study its function. Our previous studies have shown that the emerin mutants S54F, P183T, P183H, Del95-99, Del236-241 (identified in X-EDMD patients) are targeted to the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Active Transport, Cell Nucleus
Share to Cell Compartmentation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoplasm

Share to Lamin Type A

Share to Lamins

Share to Mitosis

Share to Muscular Dystrophy, Emery-Dreifuss

Share to Nuclear Envelope

Source

Identifiers

PMID: 11839786
DOI: 10.1242/jcs.115.2.341

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The cell cycle dependent mislocalisation of emerin may contribute to the Emery-Dreifuss muscular dystrophy phenotype.PMID 11839786Read ↗

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

Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype.Semantic proximity Read ↗

Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on.Semantic proximity Read ↗

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

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

Nuclear envelope proteins and associated diseases.Semantic proximity Read ↗

Nuclear envelope proteins and neuromuscular diseases.Semantic proximity Read ↗

Emerin in health and disease.Semantic proximity Read ↗

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

Nuclear envelope proteins and chromatin arrangement: a pathogenic mechanism for laminopathies.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 ↗

⌁Select a neighboring publication to make it the new centre.