Mitochondrial dysfunction is known to be associated with a wide range of human
pathologies, such as cancer, metabolic, and cardiovascular diseases. One of the possible …

Background Beta-cell monogenic forms of diabetes have strong support for precision
medicine. We systematically analyzed evidence for precision treatments for GCK-related …

Background: Acute myocardial infarction (AMI) is a leading cause of death and disability.
Diabetes is an important risk factor and a common comorbidity in AMI patients. The higher …

Mitochondria generate the energy to sustain cell viability and serve as a hub for cell
signalling. Their own genome (mtDNA) encodes genes critical for oxidative phosphorylation …

Mitochondrial disease is a group of rare conditions, with no approved treatment to date,
except for Leber hereditary optic neuropathy. Therapeutic options to alleviate the symptoms …

Inborn errors of metabolism (IEMs) encompass a diverse group of disorders that can be
difficult to classify due to heterogenous clinical, molecular, and biochemical manifestations …

Mitochondrial diseases are the most common inherited inborn error of metabolism resulting
in deficient ATP generation, due to failure in homeostasis and proper bioenergetics. The …

The mitochondrial disease group consists of different disorders with unprecedented
variability of clinical manifestations and tissue-specific symptoms. Their tissue-specific stress …

Hereditary spinocerebellar degeneration (SCD) encompasses an expanding list of rare
diseases with a broad clinical and genetic heterogeneity, complicating their diagnosis and …

Mitochondrial diseases, often caused by defects in complex I (CI) of the oxidative
phosphorylation system, currently lack curative treatments. Human-relevant, high-throughput …