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Mice were created that allotopically express either a mutant (A6M) or wildtype (A6W) mt-Atp6 transgene.
Data indicate three syndromic congenital sideroblastic anemias (CSAs) patients carrying the mitochondrially encoded ATP synthase 6 (m.8969 MT-ATP6) variant, defining the clinical spectrum of ATP6-mutation associated sideroblastic anemias (ATP6-SA).
Study describes two siblings with the maternally inherited m. 8969G>A mt-ATP6 variant and a stable phenotype with lactic acidosis, poor growth and intellectual disability.
The authors were able to detect two non-synonymous mutations in the MT-ATP6 gene, which they propose to be strong candidates for causative agents in in a girl and her mother with an unspecific neurological disorder.
Using retrospective chart review, the authors identified eleven individuals with abnormally elevated propionylcarnitine (C3) or hydroxyisovalerylcarnitine (C5OH) with mutations in MT-ATP6, most commonly m.8993T>G in high heteroplasmy or homoplasmy.
report on the acid-base status of three patients with m.9185T>C related leigh syndrome
we did not find somatic mutations in the sequence of the ATP6 and/or ND3 genes in postmenopausal Mexican-Mestizo women with breast cancer
Results identified a mutation in the mitochondrial ATP6 gene, G8969>A in a patient with IgA nephropathy which leads to replacing of a highly conserved serine residue at position 148 of the a-subunit of ATP synthase. Increasing the mutation load in cybrid cell lines was paralleled by the appearance of abnormal mitochondrial morphologies, diminished respiration and enhanced production of reactive oxygen species.
the MT-ATP6 and SURF1 gene screening in Tunisian patients affected with classical Leigh syndrome and the computational investigation of the effect of detected mutations on its structure and functions by clinical and bioinformatics analyses.
Mitochondrial ATP synthase mutations, which accumulate during carcinogenesis process, may be significant for cancer cell escape from apoptosis.
Study describes a new ATP8A2 gene mutations associated with a novel syndrome that includes encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. The data expand both the genetic and phenotypic spectrum associated with ATP8A2 gene mutations.
Interaction between mitochondrially encoded ATP synthase 6 (p.MT-ATP6) subunit and an environmental exposure of the ATP synthase inhibitor tributyltin chloride might contribute to the etiology of striatal necrosis syndromes.
A novel frameshift mutation in the mitochondrial ATP6 gene was identified in a 4-year-old girl with ataxia, microcephaly, developmental delay and intellectual disability.
Three mutations in the MT-ATP6 gene associated to the mitochondrial cardiomyopathy.
ATP6 genetic polymorphisms associated with breast cancer in Mizoram mongloid population.
genetic variants not associated with aggressive prostate cancer in overweight or obese Mexicans
analysis of mitochondrial deletion and double mutations in the MT-ATP6 gene in Tunisian patients
Two synonymous substitutions (mt.8614T>C and mt.8994G>A) in the mt-ATP6 gene may be associated with childhood obesity; study provides first data about mitochondrial genome variations in a Turkish obese population and also the first in obese children
This study suggests that, in part, polymorphisms in the MT-ATP6 and MT-CYB genes may contribute to the unexpected fertilization failure.
T8821G mutation of the ATPase6 is associated with Leber's hereditary optic neuropathy.
Screening of the MT-ATP6 gene in a large collection of patients suspected of suffering different mitochondrial DNA (mtDNA) disorders. Biochemical, molecular-genetics and other analyses show three new pathologic mutations.
Haplotypes H4 in ATP8 and H5 in ATP6 present only in Tibetan yaks were suggested to be positively associated with high-altitude adaptation.
Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Key component of the proton channel; it may play a direct role in the translocation of protons across the membrane.
ATP synthase F0 subunit 6
, ATPase class I type 8A member 2
, ATPase, aminophospholipid transporter-like, class I, type 8A, member 2
, probable phospholipid-transporting ATPase IB
, ATPase subunit 6
, F-ATPase protein 6