Coenzyme Q10 (CoQ10) has a number of vital functions in all cells, both mitochondrial and
extra-mitochondrial. In addition to its key role in mitochondrial oxidative phosphorylation …

Abstract In 2016, the Movement Disorder Society Task Force for the Nomenclature of
Genetic Movement Disorders presented a new system for naming genetically determined …

Oxygen is critical for a multitude of metabolic processes that are essential for human life.
Biological processes can be identified by treating cells with 18O2 or other isotopically …

The glyoxalase gene family consists of six structurally and functionally diverse enzymes with
broad roles in metabolism. The common feature that defines this family is based on …

Coenzyme Q (CoQ) deficiency syndrome is conventionally treated with limited efficacy using
exogenous CoQ 10. Poor outcomes result from low absorption and bioavailability of CoQ 10 …

Background Hereditary spastic paraplegia (HSP) encompasses several rare genetic
disorders characterized by progressive lower extremity spasticity and weakness caused by …

In the dynamic landscape of biomedical science, the pursuit of effective treatments for motor
neuron disorders like hereditary spastic paraplegia (HSP), amyotrophic lateral sclerosis …

Mitochondrial abnormalities are primarily seen in morphology, structure and function. They
can cause damage to organs, including the heart, brain and muscle, by various …

Mitochondria are critical for brain development and homeostasis. Therefore, pathogenic
variation in the mitochondrial or nuclear genome which disrupts mitochondrial function …

Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by
multiple congenital ectodermal, cardiac and craniofacial abnormalities with a mild to severe …