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 …

Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization

JLV Broers, HJH Kuijpers, C Östlund… - Experimental cell …, 2005 - Elsevier
We have applied the fluorescence loss of intensity after photobleaching (FLIP) technique to
study the molecular dynamics and organization of nuclear lamin proteins in cell lines stably …

Altered protein dynamics of disease-associated lamin A mutants

S Gilchrist, N Gilbert, P Perry, C Östlund, HJ Worman… - BMC cell Biology, 2004 - Springer
Background Recent interest in the function of the nuclear lamina has been provoked by the
discovery of lamin A/C mutations in the laminopathy diseases. However, it is not understood …

[HTML][HTML] Laminopathies: One Gene, Two Proteins, Five Diseases..

C Vigouroux, G Bonne - Madame Curie Bioscience Database …, 2013 - ncbi.nlm.nih.gov
Lamins are the major components of the nuclear lamina, a network located between inner
nuclear membrane and chromatin, which plays a fundamental role in the organization of the …

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 …

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 …

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 …

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations

A Muchir, J Medioni, M Laluc, C Massart… - Muscle & …, 2004 - Wiley Online Library
Mutations in LMNA, the gene that encodes nuclear lamins A and C, cause up to eight
different diseases collectively referred to as “laminopathies.” These diseases affect striated …

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 …

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 …