Dilated cardiomyopathy: genetic determinants and mechanisms

EM McNally, L Mestroni - Circulation research, 2017 - Am Heart Assoc
Nonischemic dilated cardiomyopathy (DCM) often has a genetic pathogenesis. Because of
the large number of genes and alleles attributed to DCM, comprehensive genetic testing …

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 …

Long-term arrhythmic and nonarrhythmic outcomes of lamin A/C mutation carriers

S Kumar, SH Baldinger, E Gandjbakhch… - Journal of the American …, 2016 - jacc.org
Background: Mutations in LMNA are variably expressed and may cause cardiomyopathy,
atrioventricular block (AVB), or atrial arrhythmias (AAs) and ventricular arrhythmias (VA) …

The role of the cell nucleus in mechanotransduction

CS Janota, FJ Calero-Cuenca, ER Gomes - Current opinion in cell biology, 2020 - Elsevier
Mechanical forces are known to influence cellular processes with consequences at the
cellular and physiological level. The cell nucleus is the largest and stiffest organelle, and it is …

Pathogenic LMNA variants disrupt cardiac lamina-chromatin interactions and de-repress alternative fate genes

PP Shah, W Lv, JH Rhoades, A Poleshko, D Abbey… - Cell Stem Cell, 2021 - cell.com
Pathogenic mutations in LAMIN A/C (LMNA) cause abnormal nuclear structure and
laminopathies. These diseases have myriad tissue-specific phenotypes, including dilated …

Disrupting the LINC complex by AAV mediated gene transduction prevents progression of Lamin induced cardiomyopathy

RJ Chai, H Werner, PY Li, YL Lee, KT Nyein… - Nature …, 2021 - nature.com
Mutations in the LaminA gene are a common cause of monogenic dilated cardiomyopathy.
Here we show that mice with a cardiomyocyte-specific Lmna deletion develop cardiac failure …

Role of TGF-β signaling in inherited and acquired myopathies

TN Burks, RD Cohn - Skeletal muscle, 2011 - Springer
The transforming growth factor-beta (TGF-β) superfamily consists of a variety of cytokines
expressed in many different cell types including skeletal muscle. Members of this …

Cardiac lipotoxicity: molecular pathways and therapeutic implications

K Drosatos, PC Schulze - Current heart failure reports, 2013 - Springer
Diabetes and obesity are both associated with lipotoxic cardiomyopathy exclusive of
coronary artery disease and hypertension. Lipotoxicities have become a public health …

Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by lamin A/C gene mutation

JC Choi, A Muchir, W Wu, S Iwata, S Homma… - Science translational …, 2012 - science.org
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 …

Actin-microtubule cytoskeletal interplay mediated by MRTF-A/SRF signaling promotes dilated cardiomyopathy caused by LMNA mutations

C Le Dour, M Chatzifrangkeskou, C Macquart… - Nature …, 2022 - nature.com
Mutations in the lamin A/C gene (LMNA) cause dilated cardiomyopathy associated with
increased activity of ERK1/2 in the heart. We recently showed that ERK1/2 phosphorylates …