Objectives One of the most frequently affected organs in mitochondrial disorders (MIDs),
defined as hereditary diseases due to affection of the mitochondrial energy metabolism, is …

Although the retina is thought to primarily rely on glucose for fuel, inherited deficiency of one
or more activities of mitochondrial trifunctional protein results in a pigmentary retinopathy …

Fatty acid oxidation (FAO) is crucial for cells to overcome metabolic stress by providing ATP
and NADPH. However, the mechanism by which FAO is regulated in tumors remains …

Siberia is one of the coldest environments on Earth and has great seasonal temperature
variation. Long-term settlement in northern Siberia undoubtedly required biological …

BACKGROUND: Deficiency of mitochondrial trifunctional protein (MTP) is caused by
mutations in the HADHA and HADHB genes, which have been mostly delineated at the …

Maternally mitochondrial dysfunction includes a heterogeneous group of genetic disorders
which leads to the impairment of the final common pathway of energy metabolism. Coronary …

Mutations in the HADHB gene lead to Mitochondrial Trifunctional Protein (MTP) deficiency.
MTP deficiency is a rare autosomal recessive disorder affecting long-chain fatty acid …

Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the
degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30 …

Impaired mitochondrial function is important in obesity and the development of insulin
resistance and diabetes. The aim of this study was to identify human adipocyte-derived …

At least 15 candidate genes have been implicated in hypoparathyroidism (HP). However,
comprehensive screening of causative genes for HP is lacking. Here, we investigated the …