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NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial (NDUFV2) is an enzyme that in humans is encoded by the NDUFV2 gene. The encoded protein, NDUFV2, is a subunit of complex I of the mitochondrial respiratory chain, which is located on the inner mitochondrial membrane and involved in oxidative phosphorylation. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy.
NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial is an enzyme that in humans is encoded by the NDUFS6 gene.
Acyl-CoA dehydrogenase family member 9, mitochondrial is an enzyme that in humans is encoded by the ACAD9 gene. Mitochondrial Complex I Deficiency with varying clinical manifestations has been associated with mutations in ACAD9.
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Robert K. Naviaux is an American physician-scientist who specializes in mitochondrial medicine and complex chronic disorders. He discovered the cause of Alpers syndrome, and was part of the team that reported the first mitochondrial DNA (mtDNA) mutation to cause genetic forms of autism. Naviaux proposed the cell danger response (CDR) and hyperpurinergia hypothesis for complex disorders in 2014 and directed the first FDA-approved clinical trial to study the safety and efficacy of the antipurinergic drug suramin as a new treatment for autism spectrum disorder (ASD).
References
- ↑ DiMauro, S; Bonilla, E; Lee, CP; Schotland, DL; Scarpa, A; Conn, H Jr; Chance, B (1976). "Luft's disease. Further biochemical and ultrastructural studies of skeletal muscle in the second case". J Neurol Sci. 27: 217–32. PMID 1249587.
- ↑ The Merritt Center
- ↑ The Neurological Institute of New York, Columbia University Archived 2009-02-13 at the Wayback Machine
- ↑ UMDF
- ↑ Mitochondrial Medicine by Salvatore DiMauro, Eric A. Schon, Michio Hirano
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