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12 documents found
1: Title: Nuclear genetic defects of mitochondrial ATP synthase.
Authors: Hejzlarov√°, K, et.al. .
Journal: Physiological research / Academia Scientiarum Bohemoslovaca (Physiol Res), Vol. 63 Suppl 1, 2014 .
Snippet: Two of them, ATP5A1 and ATP5E encode enzyme's structural subunits alpha and epsilon, respectively, while the other two ATPAF2 and TMEM70 encode specific ancillary factors that facilitate the biogenesis of ATP synthase.
Affiliation: Department of Bioenergetics, Institute of Physiology Academy of Sciences of the Czech Republic, Prague, Czech Republic. houstek@biomed.cas.cz. .
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2: Title: [Mitochondrial disorders associated with mitochondrial respiratory chain complex V deficiency].
Authors: Li, Xi-Yuan, et.al. .
Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics (Zhongguo Dang Dai Er Ke Za Zhi), Vol. 15 (7): 596-600, 2013 .
Snippet: On MT-ATP6, MT-ATP8, ATPAF2, TMEM70 and ATP5E gene of mitochondrial DNA, many mutations associated with Complex V deficiency have been identified.
Affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. clovernet@126.com. .
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3: Title: Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.
Authors: Mayr, Johannes A, et.al. .
Journal: Human molecular genetics (Hum Mol Genet), Vol. 19 (17): 3430-9, 2010 .
Snippet: So far, mitochondrial diseases caused by isolated disorders of the ATP synthase have been shown to result from mutations in mtDNA genes for the subunits ATP6 and ATP8 or in nuclear genes encoding the biogenesis factors TMEM70 and ATPAF2.
Affiliation: Department of Pediatrics, Paracelsus Medical University, Salzburg A5020, Austria. .
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4: Title: Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.
Authors: Reynolds, Chandra A, et.al. .
Journal: Human molecular genetics (Hum Mol Genet), Vol. 19 (10): 2068-78, 2010 .
Snippet: Secondary analyses of gene expression levels of candidates spanning the LD region together with an investigation of gene network context highlighted two possible susceptibility genes including ATPAF2 and TOM1L2.
Affiliation: Department of Psychology, University of California at Riverside, Riverside, CA 92521, USA. .
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5: Title: Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model.
Authors: Meulemans, Ann, et.al. .
Journal: The Journal of biological chemistry (J Biol Chem), Vol. 285 (6): 4099-109, 2010 .
Snippet: Studies in yeast have shown that a deficiency in Atp12p prevents assembly of the extrinsic domain (F(1)) of complex V and renders cells unable to make ATP through oxidative phosphorylation.
Affiliation: Center for Genetics, UZ Brussel, Vrije Universiteit Brussel, Brussels B-1050, Belgium. .
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6: Title: Loss of acidification of anterior prostate fluids in Atp12a-null mutant mice indicates that nongastric H-K-ATPase functions as proton pump in vivo.
Authors: Pestov, Nikolay B, et.al. .
Journal: American journal of physiology. Cell physiology (Am J Physiol-cell Ph), Vol. 291 (2): C366-74, 2006 .
Snippet: In nongastric H-K-ATPase-deficient prostate, the Na-K-ATPase alpha-subunit resided exclusively in basolateral membranes; however, the beta1-subunit disappeared from apical membranes, demonstrating that beta1 is an authentic subunit of nongastric H-K-ATPase in vivo and that apical localization of beta1 in the prostate is completely dependent on its association with the nongastric H-K-ATPase alpha-subunit.
Affiliation: Dept. of Physiology, Pharmacology, Metabolism, and Cardiovascular Sciences, Med. Univ. of Ohio, 3035 Arlington Ave., Toledo, OH 43614, USA. .
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7: Title: Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12.
Authors: De Meirleir, L, et.al. .
Journal: Journal of medical genetics (J Med Genet), Vol. 41 (2): 120-4, 2004 .
Snippet: Mutation analysis of the complete coding regions at the cDNA level of the nuclear ATP11, ATP12, ATPalpha, ATPbeta and ATPgamma genes and the mitochondrial MTATP6 and MTAT8 genes was undertaken in two unrelated patients.
Affiliation: Department of Paediatric Neurology, University Hospital Vrije Universiteit Brussel (AZK-VUB), Brussels, Belgium. linda.demeirleir@az.vub.ac.be .
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8: Title: The molecular chaperone, Atp12p, from Homo sapiens. In vitro studies with purified wild type and mutant (E240K) proteins.
Authors: Hinton, Ayana, et.al. .
Journal: The Journal of biological chemistry (J Biol Chem), Vol. 279 (10): 9016-22, 2004 .
Snippet: The molecular chaperone activity of HuAtp12p was studied using citrate synthase as a model substrate.
Affiliation: Department of Surgery, Wayne State University School of Medicine, Detroit, Michigan 48201, USA. .
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9: Title: Differential expression of ATPAF1 and ATPAF2 genes encoding F(1)-ATPase assembly proteins in mouse tissues.
Authors: Pickov√°, Andrea, et.al. .
Journal: FEBS letters (Febs Lett), Vol. 551 (1-3): 42-6, 2003 .
Snippet: ATPAF2 tissue-specific expression was also found to correlate well with mRNA levels of both F(1)-alpha and F(1)-beta (BATz.Gt;kidney, liver>heart, brain>skeletal muscle), showing the highest mRNA level in the thermogenic, ATPase-poor brown adipose tissue, which is characterised by a 10-fold decrease in ATPase/respiratory chain stoichiometry relative to the other tissues.
Affiliation: Institute of Physiology and Centre for Integrated Genomics, Academy of Sciences of the Czech Republic, 142 20 4 - Krc, Prague, Czech Republic. .
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10: Title: Atp11p and Atp12p are chaperones for F(1)-ATPase biogenesis in mitochondria.
Journal: Biochimica et biophysica acta (Biochim Biophys Acta), Vol. 1555 (1-3): 101-5, 2002 .
Snippet: The bioenergetic needs of aerobic cells are met principally through the action of the F(1)F(0) ATP synthase, which catalyzes ATP synthesis during oxidative phosphorylation.
Affiliation: Department of Surgery, Wayne State University School of Medicine, Detroit, MI 48201, USA. sackerm@med.wayne.edu .
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11: Title: Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
Authors: Bi, Weimin, et.al. .
Journal: Genome research (Genome Res), Vol. 12 (5): 713-28, 2002 .
Snippet: Most patients have the same approximately 4 Mb interstitial genomic deletion within chromosome 17p11.2.
Affiliation: Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. .
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12: Title: Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria.
Authors: Wang, Z G, et.al. .
Journal: The Journal of biological chemistry (J Biol Chem), Vol. 276 (33): 30773-8, 2001 .
Snippet: Atp11p and Atp12p were first described as proteins required for assembly of the F(1) component of the mitochondrial ATP synthase in Saccharomyces cerevisiae (Ackerman, S. H., and Tzagoloff, A. (1990) Proc.
Affiliation: Department of Surgery, Wayne State University School of Medicine, Detroit, Michigan 48201, USA. .
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