Diseases of the nuclear envelope

HJ Worman, C Östlund, Y Wang - Cold Spring Harbor …, 2010 - cshperspectives.cshlp.org
HJ Worman, C Östlund, Y Wang
Cold Spring Harbor perspectives in biology, 2010cshperspectives.cshlp.org
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 …
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.
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