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 …

The laminopathies: nuclear structure meets disease

L Mounkes, S Kozlov, B Burke, CL Stewart - Current opinion in genetics & …, 2003 - Elsevier
Most inherited diseases are associated with mutations in a specific gene. Sometimes,
mutations in two or more different genes result in diseases with a similar phenotype. Rarely …

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 …

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 …

Specific contribution of lamin A and lamin C in the development of laminopathies

N Sylvius, A Hathaway, E Boudreau, P Gupta… - Experimental cell …, 2008 - Elsevier
Mutations in the lamin A/C gene are involved in multiple human disorders for which the
pathophysiological mechanisms are partially understood. Conflicting results prevail …

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 …

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 …

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 …

The laminopathies: the functional architecture of the nucleus and its contribution to disease

B Burke, CL Stewart - Annu. Rev. Genomics Hum. Genet., 2006 - annualreviews.org
Most inherited diseases are associated with mutations in a specific gene. Often, mutations in
two or more different genes result in diseases with a similar phenotype. Rarely do different …

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 …