Gene Symbol: ATP6
Description: ATP synthase F0 subunit 6
Ueno H, Nishigaki Y, Kong Q, Fuku N, Kojima S, Iwata N, et al
. Analysis of mitochondrial DNA variants in Japanese patients with schizophrenia. Mitochondrion. 2009;9:385-93 pubmed publisher
..Three non-synonymous homoplasmic variants in subunit six of the ATP synthase (MT-ATP6) gene that were detected only in patients but not in controls were suggested to be slightly deleterious, because (1)..
D Aurelio M, Vives Bauza C, Davidson M, Manfredi G. Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells. Hum Mol Genet. 2010;19:374-86 pubmed publisher
Mutations in the mitochondrial DNA (mtDNA) encoded subunit 6 of ATPase (ATP6) are associated with variable disease expression, ranging from adult onset neuropathy, ataxia and retinitis pigmentosa (NARP) to fatal childhood maternally ..
Luo Y, Tang S, Gao W, Chen L, Yang X, Huang T, et al
. Genotyping mitochondrial DNA single nucleotide polymorphisms by PCR ligase detection reactions. Clin Chem Lab Med. 2010;48:475-83 pubmed publisher
..The PCR-LDR mtDNA genotyping technique is simple, highly accurate, has high-throughput, and is cost-effective. Therefore, this method is applicable to mtDNA haplotyping in various applications...
Venkatesh S, Kumar M, Sharma A, Kriplani A, Ammini A, Talwar P, et al
. Oxidative stress and ATPase6 mutation is associated with primary ovarian insufficiency. Arch Gynecol Obstet. 2010;282:313-8 pubmed publisher
..Such cases with OS-induced POI may benefit immensely by early diagnosis and prompt antioxidant administration...
Green R, Malaspinas A, Krause J, Briggs A, Johnson P, Uhler C, et al
. A complete Neandertal mitochondrial genome sequence determined by high-throughput sequencing. Cell. 2008;134:416-26 pubmed publisher
..There is evidence that purifying selection in the Neandertal mtDNA was reduced compared with other primate lineages, suggesting that the effective population size of Neandertals was small...
Kucharczyk R, Salin B, di Rago J. Introducing the human Leigh syndrome mutation T9176G into Saccharomyces cerevisiae mitochondrial DNA leads to severe defects in the incorporation of Atp6p into the ATP synthase and in the mitochondrial morphology. Hum Mol Genet. 2009;18:2889-98 pubmed publisher
..One of these mutations, T9176G, has been localized in the mitochondrial ATP6 gene encoding the Atp6p (or a) subunit of the ATP synthase...
Kumar M, Pathak D, Kriplani A, Ammini A, Talwar P, Dada R. Nucleotide variations in mitochondrial DNA and supra-physiological ROS levels in cytogenetically normal cases of premature ovarian insufficiency. Arch Gynecol Obstet. 2010;282:695-705 pubmed publisher
Khatami M, Houshmand M, Sadeghizadeh M, Eftekharzadeh M, Heidari M, Saber S, et al
. Accumulation of mitochondrial genome variations in Persian LQTS patients: a possible risk factor?. Cardiovasc Pathol. 2010;19:e21-7 pubmed publisher
Alsbeih G, Al Harbi N, El Sebaie M, Al Rajhi N, Al Hadyan K, Abu Amero K. Involvement of mitochondrial DNA sequence variations and respiratory activity in late complications following radiotherapy. Clin Cancer Res. 2009;15:7352-60 pubmed publisher
..Predictive markers of radiosensitivity should take into account mtDNA genetic variations in addition to variations in nuclear genes...