CAD (Carbamoyl-phosphate synthetase 2, Aspartate transcarbamoylase, and
Dihydroorotase) is a multifunctional protein that participates in the initial three speed-limiting …

Mitochondria are an indispensable part of the cell that plays a crucial role in regulating
various signaling pathways, energy metabolism, cell differentiation, proliferation, and cell …

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
syndrome, a maternally inherited mitochondrial disorder, is characterized by its genetic …

Objectives One of the most frequent cerebral lesions in mitochondrial disorders (MIDs) on
imaging is the stroke-like lesion (SLL) clinically manifesting as stroke-like episode (SLE …

Mitochondrial disorders are often difficult to diagnose because of diverse clinical
phenotypes. FGF-21 and GDF-15 are metabolic hormones and promising biomarkers for the …

Many aspects of epilepsy in mitochondrial disorders (MDs) need to be further clarified. To
this aim, we explored retrospectively a cohort of individuals with MDs querying the …

Mitochondria is the cell's powerhouse. Mitochondrial disease refers to a group of clinically
heterogeneous disorders caused by dysfunction in the mitochondrial respiratory chain, often …

Complex I is the largest member of the electron transport chain in human mitochondria. It
comprises 45 subunits and requires at least 15 assembly factors. The subunits can be …

Introduction: Epilepsy is a prominent feature of myoclonic epilepsy with ragged-red fibers
(MERRF)-syndrome. The most frequent seizure type is myoclonic seizures, of which the …

Epilepsy is a complex neurological disorder characterized by recurrent seizures affecting
millions of people worldwide. Despite advances in drug therapy, a significant proportion of …