Many diseases are caused by insufficient expression of mutated genes and would benefit
from increased expression of the corresponding protein. However, in drug development, it …

Hypertrophic cardiomyopathy is a myocardial disease defined by an increased left
ventricular wall thickness not solely explained by abnormal loading conditions. It is often …

Glycogen storage disease type III (GSDIII) is a rare inborn error of metabolism affecting liver,
skeletal muscle, and heart due to mutations of the AGL gene encoding for the glycogen …

Friedreich's ataxia (FRDA), a neurodegenerative disease characterized by ataxia and other
neurological features, affects 1 in 50,000–100,000 individuals in the USA. However, FRDA …

Friedreich's ataxia is a rare disorder resulting from deficiency of frataxin, a mitochondrial
protein implicated in the synthesis of iron-sulfur clusters. Preclinical studies in mice have …

Rationale Myocardial ischemia/reperfusion (I/R) injury is characterized by cell death via
various cellular mechanisms upon reperfusion. As a new type of cell death, ferroptosis …

Abstract Mitofusin-2 (MFN2) is an outer mitochondrial membrane protein essential for
mitochondrial networking in most cells. Autosomal dominant mutations in the MFN2 gene …

Introduction Friedreich ataxia (FRDA) is a rare autosomal recessive degenerative disorder
characterized by ataxia, dysarthria, diabetes, cardiomyopathy, scoliosis, and occasionally …

Recent investigations have defined the pathophysiological basis of many hereditary ataxias
(HAs), including loss-of-function as well as gain-of-function mechanisms at either the RNA or …

Friedreich's ataxia is an autosomal recessive neurogenetic disease that is mainly associated
with atrophy of the spinal cord and progressive neurodegeneration in the cerebellum. The …