Mitochondriales ATP6-Gen

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White SL et al. (1999) Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.

Baracca A et al. (2000) Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a.

Kerrison JB et al. (2000) Retinopathy of NARP syndrome.

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Nijtmans LG et al. (2001) Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene.

Carrozzo R et al. (2001) The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.

Geromel V et al. (2001) Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA.

Porto FB et al. (2001) Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.

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Carelli V et al. (2002) Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation.

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Manfredi G et al. (2002) Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus.

Mishmar D et al. (2003) Natural selection shaped regional mtDNA variation in humans.

Shoffner JM et al. (1992) Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation.

Elson JL et al. (2004) Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection.

Mattiazzi M et al. (2004) The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants.

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Rantamäki MT et al. (2005) Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.

Castagna AE et al. (2007) Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.

Jung J et al. (2007) NARP mitochondriopathy: an unusual cause of progressive myoclonic epilepsy.

Craig K et al. (2007) Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.

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