Nuclear envelope, nuclear lamina, and inherited disease

HJ Worman, JC Courvalin - International review of cytology, 2005 - Elsevier
The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear
pore complexes. In recent years, mutations in nuclear‐envelope proteins have been shown …

The nuclear envelope and human disease

A Muchir, HJ Worman - Physiology, 2004 - journals.physiology.org
Mutations in nuclear lamins A and C, intermediate filament proteins of the nuclear envelope,
cause diseases affecting various tissues and the aging process. We review what is known …

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 …

Molecular pathology of laminopathies

JY Shin, HJ Worman - Annual Review of Pathology …, 2022 - annualreviews.org
The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear
pore complexes. Laminopathies are diseases caused by mutations in genes encoding …

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 …

Components of the nuclear envelope and their role in human disease

HJ Worman - Nuclear Organization in Development and …, 2005 - Wiley Online Library
The nuclear envelope is composed of the nuclear lamina, nuclear pore complexes and
nuclear membranes. The outer nuclear membrane is very similar to the rough endoplasmic …

Life at the edge: the nuclear envelope and human disease

B Burke, CL Stewart - Nature reviews Molecular cell biology, 2002 - nature.com
A group of human diseases, known as' laminopathies', are associated with defects in
proteins of the nuclear envelope. Most laminopathy mutations have been mapped to the A …

Laminopathies: involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases

NM Maraldi, S Squarzoni, P Sabatelli… - Journal of cellular …, 2005 - Wiley Online Library
Just at the beginning of the millennium the neologism laminopathies has been introduced in
the scientific vocabulary. An exponential increase of interest on the subject started …

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 …

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 …