Mitochondria are essential organelles for neuronal function and cell survival. Besides the
well-known bioenergetics, additional mitochondrial roles in calcium signaling, lipid …

Leigh syndrome (LS) is a severe manifestation of mitochondrial disease in children and is
currently incurable. The lack of effective models hampers our understanding of the …

Mitochondria play a key role in kidney physiology and pathology. They produce ATP to fuel
energy-demanding water and solute reabsorption processes along the nephron. Moreover …

Mitochondria are dynamic membrane-bound organelles in eukaryotic cells. These are
important for the generation of chemical energy needed to power various cellular functions …

Neuromuscular diseases (NMDs) are dysfunctions that involve skeletal muscle and cause
incorrect communication between the nerves and muscles. The specific causes of NMDs are …

SURF1 encodes the assembly factor for maintaining the antioxidant of cytochrome c oxidase
(COX) stability in the human electron respiratory chain. Mutations in SURF1 can cause …

Mitochondria are highly-dynamic, membrane-bound organelles that generate most of the
chemical energy needed to power the biochemical reactions in eukaryotic cells. These …

Background This retrospective chart review evaluated the clinical characteristics of SURF1-
related neurological disease spectrum to better characterize the phenotypes. Methods …

Objective: Rare disease Background: Leigh disease (LD) is a rare progressive mitochondrial
neurodegenerative disorder characterized by subacute necrotizing encephalopathy and …

Metabolic and mitochondrial myopathies are genetic disorders that cause muscle disease
due to a deficiency in energy metabolism. Particularly, lipid and carbohydrate metabolism …