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  1. Article ; Online: Common presence of aerobic anoxygenic photosynthesis within the genus

    Kasalický, Vojtěch / Zeng, Yonghui / Piwosz, Kasia / Šimek, Karel / Kratochvilová, Hana / Koblížek, Michal

    Applied and environmental microbiology

    2017  

    Abstract: ... The ... ...

    Abstract The genus
    Language English
    Publishing date 2017-10-13
    Publishing country United States
    Document type Journal Article
    ZDB-ID 223011-2
    ISSN 1098-5336 ; 0099-2240
    ISSN (online) 1098-5336
    ISSN 0099-2240
    DOI 10.1128/AEM.02116-17
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  2. Article: Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene

    Honzik, Tomas / Tesarova, Marketa / Vinsova, Kamila / Hansikova, Hana / Magner, Martin / Kratochvilova, Hana / Zamecnik, Josef / Zeman, Jiri / Jesina, Pavel

    Molecular genetics and metabolism. 2013 Jan., v. 108, no. 1

    2013  

    Abstract: We report the second known family with a very rare, maternally inherited missense m.8851T>C mutation in the mitochondrial MTATP6 gene. A failure to thrive, microcephaly, psychomotor retardation and hypotonia were present in a 3-year-old girl with a high ... ...

    Abstract We report the second known family with a very rare, maternally inherited missense m.8851T>C mutation in the mitochondrial MTATP6 gene. A failure to thrive, microcephaly, psychomotor retardation and hypotonia were present in a 3-year-old girl with a high mtDNA mutation load (87–97%). Ataxia and Leigh syndrome were subsequently documented in a neurological examination and brain MRI. A muscle biopsy demonstrated decreased ATP synthase and an accumulation of succinate dehydrogenase products, indicating mitochondrial myopathy. Her 36-year-old mother (68% blood heteroplasmy) developed peripheral neuropathy and muscle weakness at the age of 22years. Our findings extend the clinical and laboratory phenotype associated with the m.8851T>C mutation.
    Keywords H+/K+-exchanging ATPase ; H-transporting ATP synthase ; biopsy ; blood ; brain ; failure to thrive ; genes ; girls ; magnetic resonance imaging ; mitochondrial DNA ; muscles ; muscular diseases ; mutation ; peripheral nervous system diseases ; phenotype ; succinate dehydrogenase
    Language English
    Dates of publication 2013-01
    Size p. 102-105.
    Publishing place Elsevier Inc.
    Document type Article
    ZDB-ID 1418518-0
    ISSN 1096-7206 ; 1096-7192
    ISSN (online) 1096-7206
    ISSN 1096-7192
    DOI 10.1016/j.ymgme.2012.11.002
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  3. Article ; Online: Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.

    Honzik, Tomas / Tesarova, Marketa / Vinsova, Kamila / Hansikova, Hana / Magner, Martin / Kratochvilova, Hana / Zamecnik, Josef / Zeman, Jiri / Jesina, Pavel

    Molecular genetics and metabolism

    2013  Volume 108, Issue 1, Page(s) 102–105

    Abstract: We report the second known family with a very rare, maternally inherited missense m.8851T>C mutation in the mitochondrial MTATP6 gene. A failure to thrive, microcephaly, psychomotor retardation and hypotonia were present in a 3-year-old girl with a high ... ...

    Abstract We report the second known family with a very rare, maternally inherited missense m.8851T>C mutation in the mitochondrial MTATP6 gene. A failure to thrive, microcephaly, psychomotor retardation and hypotonia were present in a 3-year-old girl with a high mtDNA mutation load (87-97%). Ataxia and Leigh syndrome were subsequently documented in a neurological examination and brain MRI. A muscle biopsy demonstrated decreased ATP synthase and an accumulation of succinate dehydrogenase products, indicating mitochondrial myopathy. Her 36-year-old mother (68% blood heteroplasmy) developed peripheral neuropathy and muscle weakness at the age of 22 years. Our findings extend the clinical and laboratory phenotype associated with the m.8851T>C mutation.
    MeSH term(s) Animals ; Biopsy ; Child, Preschool ; Dogs ; Female ; Humans ; Mitochondria/metabolism ; Mitochondrial Proton-Translocating ATPases/genetics ; Muscles/pathology ; Mutation
    Chemical Substances Mitochondrial Proton-Translocating ATPases (EC 3.6.3.-)
    Language English
    Publishing date 2013-01
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1418518-0
    ISSN 1096-7206 ; 1096-7192
    ISSN (online) 1096-7206
    ISSN 1096-7192
    DOI 10.1016/j.ymgme.2012.11.002
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  4. Article ; Online: Mitochondrial membrane assembly of TMEM70 protein.

    Kratochvílová, Hana / Hejzlarová, Kateřina / Vrbacký, Marek / Mráček, Tomáš / Karbanová, Vendula / Tesařová, Markéta / Gombitová, Adriána / Cmarko, Dušan / Wittig, Ilka / Zeman, Jiří / Houštěk, Josef

    Mitochondrion

    2014  Volume 15, Page(s) 1–9

    Abstract: Dysfunction of TMEM70 disrupts the biogenesis of ATP synthase and represents the frequent cause of autosomal recessive encephalocardiomyopathy. We used tagged forms of TMEM70 and demonstrated that it has a hairpin structure with the N- and C-termini ... ...

    Abstract Dysfunction of TMEM70 disrupts the biogenesis of ATP synthase and represents the frequent cause of autosomal recessive encephalocardiomyopathy. We used tagged forms of TMEM70 and demonstrated that it has a hairpin structure with the N- and C-termini oriented towards the mitochondrial matrix. On BN-PAGE TMEM70 was detected in multiple forms including dimers and displayed partial overlap with assembled ATP synthase. Immunoprecipitation studies confirmed mutual interactions between TMEM70 molecules but, together with immunogold electron microscopy, not direct interaction with ATP synthase subunits. This indicates that the biological function of TMEM70 in the ATP synthase biogenesis may be mediated through interaction with other protein(s).
    MeSH term(s) Cell Line ; Humans ; Immunoprecipitation ; Membrane Proteins/metabolism ; Microscopy, Immunoelectron ; Mitochondrial Membranes/metabolism ; Mitochondrial Proteins/metabolism ; Mitochondrial Proton-Translocating ATPases/metabolism ; Protein Multimerization
    Chemical Substances Membrane Proteins ; Mitochondrial Proteins ; TMEM70 protein, human ; Mitochondrial Proton-Translocating ATPases (EC 3.6.3.-)
    Language English
    Publishing date 2014-03
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2056923-3
    ISSN 1872-8278 ; 1567-7249
    ISSN (online) 1872-8278
    ISSN 1567-7249
    DOI 10.1016/j.mito.2014.02.010
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  5. Article ; Online: Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.

    Vondráčková, Alžběta / Veselá, Kateřina / Kratochvílová, Hana / Kučerová Vidrová, Vendula / Vinšová, Kamila / Stránecký, Viktor / Honzík, Tomáš / Hansíková, Hana / Zeman, Jiří / Tesařová, Markéta

    European journal of human genetics : EJHG

    2013  Volume 22, Issue 3, Page(s) 431–434

    Abstract: Mitochondrial disorders are caused by defects in mitochondrial or nuclear DNA. Although the existence of large deletions in mitochondrial DNA (mtDNA) is well known, deletions affecting whole genes are not commonly described in patients with mitochondrial ...

    Abstract Mitochondrial disorders are caused by defects in mitochondrial or nuclear DNA. Although the existence of large deletions in mitochondrial DNA (mtDNA) is well known, deletions affecting whole genes are not commonly described in patients with mitochondrial disorders. Based on the results of whole-genome analyses, copy number variations (CNVs) occur frequently in the human genome and may overlap with many genes associated with clinical phenotypes. We report the discovery of two large heterozygous CNVs on 22q13.33 in two patients with mitochondrial disorders. The first patient harboured a novel point mutation c.667G>A (p.D223N) in the SCO2 gene in combination with a paternally inherited 87-kb deletion. As hypertrophic cardiomyopathy (HCMP) was not documented in the patient, this observation prompted us to compare his clinical features with all 44 reported SCO2 patients in the literature. Surprisingly, the review shows that HCMP was present in only about 50% of the SCO2 patients with non-neonatal onset. In the second patient, who had mitochondrial neurogastrointestinal encephalopathy (MNGIE), a maternally inherited 175-kb deletion and the paternally inherited point mutation c.261G>T (p.E87D) in the TYMP gene were identified.
    MeSH term(s) Cardiomyopathy, Hypertrophic, Familial/diagnosis ; Cardiomyopathy, Hypertrophic, Familial/genetics ; Carrier Proteins/genetics ; Child ; Chromosomes, Human, Pair 22/genetics ; DNA Copy Number Variations ; Humans ; Infant ; Intestinal Pseudo-Obstruction/diagnosis ; Intestinal Pseudo-Obstruction/genetics ; Male ; Mitochondrial Encephalomyopathies/diagnosis ; Mitochondrial Encephalomyopathies/genetics ; Mitochondrial Proteins/genetics ; Molecular Chaperones ; Muscular Dystrophy, Oculopharyngeal ; Ophthalmoplegia/congenital ; Point Mutation ; Thymidine Phosphorylase/genetics
    Chemical Substances Carrier Proteins ; Mitochondrial Proteins ; Molecular Chaperones ; SCO2 protein, human ; TYMP protein, human (EC 2.4.2.4) ; Thymidine Phosphorylase (EC 2.4.2.4)
    Language English
    Publishing date 2013-07-10
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/ejhg.2013.148
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    Zs.A 3589: Show issues Location:
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  6. Article: Expression and processing of the TMEM70 protein

    Hejzlarová, Kateřina / Tesařová, Markéta / Vrbacká-Čížková, Alena / Vrbacký, Marek / Hartmannová, Hana / Kaplanová, Vilma / Nosková, Lenka / Kratochvílová, Hana / Buzková, Jana / Havlíčková, Vendula / Zeman, Jiří / Kmoch, Stanislav / Houštěk, Josef

    BBA - Bioenergetics. 2011 Jan., v. 1807, no. 1

    2011  

    Abstract: TMEM70 protein represents a novel ancillary factor of mammalian ATP synthase. We have investigated import and processing of this factor in human cells using GFP- and FLAG-tagged forms of TMEM70 and specific antibodies. TMEM70 is synthesized as a 29kDa ... ...

    Abstract TMEM70 protein represents a novel ancillary factor of mammalian ATP synthase. We have investigated import and processing of this factor in human cells using GFP- and FLAG-tagged forms of TMEM70 and specific antibodies. TMEM70 is synthesized as a 29kDa precursor protein that is processed to a 21kDa mature form. Immunocytochemical detection of TMEM70 showed mitochondrial colocalization with MitoTracker Red and ATP synthase. Western blot of subcellular fractions revealed the highest signal of TMEM70 in isolated mitochondria and mitochondrial location was confirmed by mass spectrometry analysis. Based on analysis of submitochondrial fractions, TMEM70 appears to be located in the inner mitochondrial membrane, in accordance with predicated transmembrane regions in the central part of the TMEM70 sequence. Two-dimensional electrophoretic analysis did not show direct interaction of TMEM70 with assembled ATP synthase but indicated the presence of dimeric form of TMEM70. No TMEM70 protein could be found in cells and isolated mitochondria from patients with ATP synthase deficiency due to TMEM70 c.317-2A>G mutation thus confirming that TMEM70 biosynthesis is prevented in these patients.
    Keywords H+/K+-exchanging ATPase ; H-transporting ATP synthase ; Western blotting ; antibodies ; biosynthesis ; electrophoresis ; human diseases ; humans ; mass spectrometry ; mitochondria ; mitochondrial membrane ; mutation ; patients ; protein synthesis ; protein-protein interactions ; spectral analysis ; tissue distribution
    Language English
    Dates of publication 2011-01
    Size p. 144-149.
    Publishing place Elsevier B.V.
    Document type Article
    ZDB-ID 282711-6
    ISSN 0005-2728 ; 0304-4173
    ISSN 0005-2728 ; 0304-4173
    DOI 10.1016/j.bbabio.2010.10.005
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  7. Article: Expression and processing of the TMEM70 protein.

    Hejzlarová, Kateřina / Tesařová, Markéta / Vrbacká-Čížková, Alena / Vrbacký, Marek / Hartmannová, Hana / Kaplanová, Vilma / Nosková, Lenka / Kratochvílová, Hana / Buzková, Jana / Havlíčková, Vendula / Zeman, Jiří / Kmoch, Stanislav / Houštěk, Josef

    Biochimica et biophysica acta

    2011  Volume 1807, Issue 1, Page(s) 144–149

    Abstract: TMEM70 protein represents a novel ancillary factor of mammalian ATP synthase. We have investigated import and processing of this factor in human cells using GFP- and FLAG-tagged forms of TMEM70 and specific antibodies. TMEM70 is synthesized as a 29kDa ... ...

    Abstract TMEM70 protein represents a novel ancillary factor of mammalian ATP synthase. We have investigated import and processing of this factor in human cells using GFP- and FLAG-tagged forms of TMEM70 and specific antibodies. TMEM70 is synthesized as a 29kDa precursor protein that is processed to a 21kDa mature form. Immunocytochemical detection of TMEM70 showed mitochondrial colocalization with MitoTracker Red and ATP synthase. Western blot of subcellular fractions revealed the highest signal of TMEM70 in isolated mitochondria and mitochondrial location was confirmed by mass spectrometry analysis. Based on analysis of submitochondrial fractions, TMEM70 appears to be located in the inner mitochondrial membrane, in accordance with predicated transmembrane regions in the central part of the TMEM70 sequence. Two-dimensional electrophoretic analysis did not show direct interaction of TMEM70 with assembled ATP synthase but indicated the presence of dimeric form of TMEM70. No TMEM70 protein could be found in cells and isolated mitochondria from patients with ATP synthase deficiency due to TMEM70 c.317-2A>G mutation thus confirming that TMEM70 biosynthesis is prevented in these patients.
    MeSH term(s) Amino Acid Sequence ; Animals ; Blotting, Western ; Cattle ; Cell Line ; Cloning, Molecular ; DNA, Complementary/genetics ; Escherichia coli/enzymology ; Fibroblasts/enzymology ; Humans ; Kidney/enzymology ; Mass Spectrometry/methods ; Membrane Proteins/chemistry ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Mice ; Mitochondria/enzymology ; Mitochondrial Proteins/chemistry ; Mitochondrial Proteins/genetics ; Mitochondrial Proteins/metabolism ; Mitochondrial Proton-Translocating ATPases/deficiency ; Molecular Sequence Data ; Sequence Alignment ; Sequence Homology, Amino Acid ; Submitochondrial Particles/enzymology
    Chemical Substances DNA, Complementary ; Membrane Proteins ; Mitochondrial Proteins ; TMEM70 protein, human ; Mitochondrial Proton-Translocating ATPases (EC 3.6.3.-)
    Language English
    Publishing date 2011-01
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 60-7
    ISSN 1879-2596 ; 1879-260X ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    ISSN (online) 1879-2596 ; 1879-260X ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650
    ISSN 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    DOI 10.1016/j.bbabio.2010.10.005
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  8. Article ; Online: The clinical, biochemical and genetic features associated with

    Ng, Yi Shiau / Alston, Charlotte L / Diodato, Daria / Morris, Andrew A / Ulrick, Nicole / Kmoch, Stanislav / Houštěk, Josef / Martinelli, Diego / Haghighi, Alireza / Atiq, Mehnaz / Gamero, Montserrat Anton / Garcia-Martinez, Elena / Kratochvílová, Hana / Santra, Saikat / Brown, Ruth M / Brown, Garry K / Ragge, Nicola / Monavari, Ahmad / Pysden, Karen /
    Ravn, Kirstine / Casey, Jillian P / Khan, Arif / Chakrapani, Anupam / Vassallo, Grace / Simons, Cas / McKeever, Karl / O'Sullivan, Siobhan / Childs, Anne-Marie / Østergaard, Elsebet / Vanderver, Adeline / Goldstein, Amy / Vogt, Julie / Taylor, Robert W / McFarland, Robert

    Journal of medical genetics

    2016  Volume 53, Issue 11, Page(s) 768–775

    Abstract: Background: Mutations in the : Methods: We summarised the clinical, biochemical and molecular genetic investigation of an international cohort of affected individuals with : Results: We identified 14 new cases from 11 pedigrees that harbour ... ...

    Abstract Background: Mutations in the
    Methods: We summarised the clinical, biochemical and molecular genetic investigation of an international cohort of affected individuals with
    Results: We identified 14 new cases from 11 pedigrees that harbour recessive
    Conclusions: The clinical phenotypes and prognosis associated with
    Language English
    Publishing date 2016-07-13
    Publishing country England
    Document type Journal Article
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmedgenet-2016-103910
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