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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

From lamins to lamina: a structural perspective

M Zwerger, O Medalia - Histochemistry and cell biology, 2013 - Springer
Lamin proteins are the major constituents of the nuclear lamina, a proteinaceous network
that lines the inner nuclear membrane. Primarily, the nuclear lamina provides structural …

Pathogenic mutations in genes encoding nuclear envelope proteins and defective nucleocytoplasmic connections

C Östlund, W Chang, GG Gundersen… - Experimental …, 2019 - journals.sagepub.com
Mutations in genes encoding nuclear lamins and associated nuclear envelope proteins
have been linked to a broad range of inherited diseases affecting different tissues and …