Lamins in disease: why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes?

CJ Hutchison, M Alvarez-Reyes… - Journal of Cell …, 2001 - journals.biologists.com
The nuclear lamina is a filamentous structure composed of lamins that supports the inner
nuclear membrane. Several integral membrane proteins including emerin, LBR, LAP1 and …

The nuclear envelope, muscular dystrophy and gene expression

KL Wilson - Trends in Cell Biology, 2000 - cell.com
Lamins and other nuclear envelope proteins organize nuclear architecture through structural
attachments that vary dynamically during the cell cycle and cell differentiation. Genetic …

Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy

WH Raharjo, P Enarson, T Sullivan… - Journal of cell …, 2001 - journals.biologists.com
Nuclear lamin A and C alleles that are linked to three distinct human diseases have been
expressed both in HeLa cells and in fibroblasts derived from Lmna null mice. Point …

Lamina-independent lamins in the nuclear interior serve important functions

T Dechat, K Gesson, R Foisner - Cold Spring Harbor …, 2010 - symposium.cshlp.org
Nuclear lamins were originally described as the main constituents of the nuclear lamina, a
filamentous meshwork closely associated with the inner nuclear membrane. However, within …

Inner nuclear membrane proteins: impact on human disease

I Méndez-López, HJ Worman - Chromosoma, 2012 - Springer
In the past decade, the inner nuclear membrane has become a focus of research on
inherited diseases. A heterogeneous group of genetic disorders known as laminopathies …

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

T Sullivan, D Escalante-Alcalde, H Bhatt… - The Journal of cell …, 1999 - rupress.org
The nuclear lamina is a protein meshwork lining the nucleoplasmic face of the inner nuclear
membrane and represents an important determinant of interphase nuclear architecture. Its …

Diseases of the nuclear envelope

HJ Worman, C Östlund, Y Wang - Cold Spring Harbor …, 2010 - cshperspectives.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 …

Nuclear lamins and laminopathies

HJ Worman - The Journal of pathology, 2012 - Wiley Online Library
Nuclear lamins are intermediate filament proteins that polymerize to form the nuclear lamina
on the inner aspect of the inner nuclear membrane. Long known to be essential for …

Lamins and disease: insights into nuclear infrastructure

KL Wilson, MS Zastrow, KK Lee - Cell, 2001 - cell.com
LMNA, the gene encoding A-type lamins (Bonne et al., opment, differentiation, and normal
cell function. Some 2000). These diseases took cell biologists by surprise, signals trigger …

Laminopathies

JLV Broers, CJ Hutchison… - The Journal of …, 2004 - Wiley Online Library
Nuclear lamins form a fibrous nucleoskeletal network of intermediate‐sized filaments that
underlies the inner nuclear membrane. It associates with this membrane through …