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 …
pore complexes. Laminopathies are diseases caused by mutations in genes encoding …
Post-translational modifications of intermediate filament proteins: mechanisms and functions
NT Snider, MB Omary - Nature reviews Molecular cell biology, 2014 - nature.com
Intermediate filaments (IFs) are cytoskeletal and nucleoskeletal structures that provide
mechanical and stress-coping resilience to cells, contribute to subcellular and tissue-specific …
mechanical and stress-coping resilience to cells, contribute to subcellular and tissue-specific …
Cellular mechanosensing: getting to the nucleus of it all
GR Fedorchak, A Kaminski, J Lammerding - Progress in biophysics and …, 2014 - Elsevier
Cells respond to mechanical forces by activating specific genes and signaling pathways that
allow the cells to adapt to their physical environment. Examples include muscle growth in …
allow the cells to adapt to their physical environment. Examples include muscle growth in …
Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by lamin A/C gene mutation
Mutations in the lamin A/C gene (LMNA), which encodes A-type lamins, cause a diverse
range of diseases collectively called laminopathies, the most common of which is dilated …
range of diseases collectively called laminopathies, the most common of which is dilated …
Intermediate filaments in cardiomyopathy
M Tsikitis, Z Galata, M Mavroidis, S Psarras… - Biophysical …, 2018 - Springer
Intermediate filament (IF) proteins are critical regulators in health and disease. The
discovery of hundreds of mutations in IF genes and posttranslational modifications has been …
discovery of hundreds of mutations in IF genes and posttranslational modifications has been …
Skeletal and cardiac muscle disorders caused by mutations in genes encoding intermediate filament proteins
L Maggi, M Mavroidis, S Psarras, Y Capetanaki… - International Journal of …, 2021 - mdpi.com
Intermediate filaments are major components of the cytoskeleton. Desmin and synemin,
cytoplasmic intermediate filament proteins and A-type lamins, nuclear intermediate filament …
cytoplasmic intermediate filament proteins and A-type lamins, nuclear intermediate filament …
[HTML][HTML] Modeling of lamin A/C mutation premature cardiac aging using patient-specific induced pluripotent stem cells
CW Siu, YK Lee, JCY Ho, WH Lai, YC Chan… - Aging (Albany …, 2012 - ncbi.nlm.nih.gov
AIMS We identified an autosomal dominant non-sense mutation (R225X) in exon 4 of the
lamin A/C (LMNA) gene in a Chinese family spanning 3 generations with familial dilated …
lamin A/C (LMNA) gene in a Chinese family spanning 3 generations with familial dilated …
From gene to mechanics: a comprehensive insight into the mechanobiology of LMNA mutations in cardiomyopathy
RJA Veltrop, MM Kukk, K Topouzidou, L Didden… - Cell Communication and …, 2024 - Springer
Severe cardiac remodeling leading to heart failure in individuals harboring pathogenic
LMNA variants, known as cardiolaminopathy, poses a significant clinical challenge …
LMNA variants, known as cardiolaminopathy, poses a significant clinical challenge …
Causes and consequences of nuclear envelope alterations in tumour progression
ES Bell, J Lammerding - European journal of cell biology, 2016 - Elsevier
Morphological changes in the size and shape of the nucleus are highly prevalent in cancer,
but the underlying molecular mechanisms and the functional relevance remain poorly …
but the underlying molecular mechanisms and the functional relevance remain poorly …
Abnormal p38α mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation
A Muchir, W Wu, JC Choi, S Iwata… - Human molecular …, 2012 - academic.oup.com
We previously interrogated the transcriptome in heart tissue from Lmna H222P/H222P mice,
a mouse model of cardiomyopathy caused by lamin A/C gene (LMNA) mutation, and found …
a mouse model of cardiomyopathy caused by lamin A/C gene (LMNA) mutation, and found …