The prospect of changing the plasticity of terminally differentiated cells toward pluripotency
has completely altered the outlook for biomedical research. Human-induced pluripotent …

One of the obstacles to a better understanding of the pathogenesis of human
cardiomyopathies has been poor availability of heart-tissue samples at early stages of …

A number of genetic mutations is associated with cardiomyopathies. A mutation in the
coding region of the phospholamban (PLN) gene (R14del) is identified in families with …

Friedreich ataxia (FRDA) is a rare, inherited neurodegenerative disease caused by an
expanded GAA repeat in the first intron of the FXN gene, leading to transcriptional silencing …

In the last few decades, many pathogenic or likely pathogenic genetic mutations in over
hundred different genes have been described for non-ischemic, genetic cardiomyopathies …

Empagliflozin, a sodium-glucose co-transporter (SGLT) inhibitor, reduces heart failure and
sudden cardiac death but the underlying mechanisms remain elusive. In cardiomyocytes …

Mitochondrial cardiomyopathy (MCM) is characterized by abnormal heart-muscle structure
and function, caused by mutations in the nuclear genome or mitochondrial DNA. The …

Background Precision medicine is an emerging approach to disease treatment and
prevention that takes into account individual variability in the environment, lifestyle, and …

In the past few years, the use of specific cell types derived from induced pluripotent stem
cells (iPSCs) has developed into a powerful approach to investigate the cellular …

Friedreich's ataxia is caused by large homozygous, intronic expansions of GAA repeats in
the frataxin (FXN) gene, resulting in severe downregulation of its expression. Pathogenic …