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Cold Spring Harb Perspect Biol. 2010 Feb;2(2):a000760. doi: 10.1101/cshperspect.a000760.

Diseases of the nuclear envelope.

Author information

  • 1Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA. hjw14@columbia.edu

Abstract

In the past decade, a wide range of fascinating monogenic diseases have been linked to mutations in the LMNA gene, which encodes the A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. These diseases include dilated cardiomyopathy with variable muscular dystrophy, Dunnigan-type familial partial lipodystrophy, a Charcot-Marie-Tooth type 2 disease, mandibuloacral dysplasia, and Hutchinson-Gilford progeria syndrome. Several diseases are also caused by mutations in genes encoding B-type lamins and proteins that associate with the nuclear lamina. Studies of these so-called laminopathies or nuclear envelopathies, some of which phenocopy common human disorders, are providing clues about functions of the nuclear envelope and insights into disease pathogenesis and human aging.

PMID:
20182615
[PubMed - indexed for MEDLINE]
PMCID:
PMC2828284
Free PMC Article

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