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Article

Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration.

Brain : a journal of neurology - 1 Apr 2006

Bakay Marina, Wang Zuyi, Melcon Gisela, Schiltz Louis, Xuan Jianhua, Zhao Po, Sartorelli Vittorio, Seo Jinwook, Pegoraro Elena, Angelini Corrado, Shneiderman Ben, Escolar Diana, Chen Yi-Wen, Winokur Sara T, Pachman Lauren M, Fan Chenguang, Mandler Raul, Nevo Yoram, Gordon Erynn, Zhu Yitan, Dong Yibin, Wang Yue, Hoffman Eric P

Abstract excerpt

Mutations of lamin A/C (LMNA) cause a wide range of human disorders, including progeria, lipodystrophy, neuropathies and autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD). EDMD is also caused by X-linked recessive loss-of-function mutations of emerin, another component of the inner nuclear lamina that directly interacts with LMNA. One model for disease pathogenesis of LMNA and emerin mutations is...

Read the complete abstract on PubMed

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16478798
DOI: 10.1093/brain/awl023

Genes

LMNA
CREBBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration.PMID 16478798Read ↗

Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Interconnection between molecular regulators in LMNA related muscular dystrophySemantic proximity Read ↗

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

Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy.Semantic proximity Read ↗

A Multistage Sequencing Strategy Pinpoints Many Novel and Candidate Disease Alleles for Orphan Disease Emery-Dreifuss Muscular Dystrophy and Supports Gene Misregulation as its PathomechanismSemantic proximity Read ↗

Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation.Semantic proximity Read ↗

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

Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.Semantic proximity Read ↗

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.Semantic proximity Read ↗

Metabolic, Fibrotic, and Splicing Pathways Are All Altered in Emery-Dreifuss Muscular Dystrophy Spectrum Patients to Differing DegreesSemantic proximity Read ↗

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Metabolic, fibrotic and splicing pathways are all altered in Emery-Dreifuss muscular dystrophy spectrum patients to differing degrees.Semantic proximity Read ↗

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