1 to 10 of 26 literature results

• Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

  Defects in mitochondrial translation are among the most common causes of mitochondrial disease, but the mechanisms that regulate mitochondrial transla…

  Authors: Woranontee Weraarpachai, Hana Antonicka, Florin Sasarman, Jürgen Seeger, Bertold Schrank, Jill E Kolesar, Hanns Lochmüller, Mario Chevrette, Brett A Kaufman, Rita Horvath,…

  Source: Nature genetics. 2009 Jul

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• Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys.

  We describe a patient who presented with parkinsonism associated with the A8344G myoclonus epilepsy, ataxia, and myopathy with ragged red fibers mutat…

  Authors: Rita Horvath, Rudolf Andre Kley, Hanns Lochmüller, Matthias Vorgerd

  Source: Neurology. 2007 Jan 2

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• In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.

  Mitochondrial DNA depletion syndrome, a frequent cause of childhood (hepato)encephalomyopathies, is defined as a reduction of mitochondrial DNA copy n…

  Authors: Stefanie Bulst, Angela Abicht, Elke Holinski-Feder, Solvig Müller-Ziermann, Udo Koehler, Christian Thirion, Maggie C Walter, Joanna D Stewart, Patrick F Chinnery, Hanns Lochmüller,…

  Source: Human molecular genetics. 2009 May 1

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• Grading quality of evidence and strength of recommendations for diagnostic tests and strategies.

  Authors: Andrea Rita Horvath

  Source: Clinical chemistry. 2009 May

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• Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.

  Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete pene…

  Authors: Gavin Hudson, Valerio Carelli, Liesbeth Spruijt, Mike Gerards, Catherine Mowbray, Alessandro Achilli, Angela Pyle, Joanna Elson, Neil Howell, Chiara La Morgia,…

  Source: American journal of human genetics. 2007 Aug

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• Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

  Escobar syndrome is a form of arthrogryposis multiplex congenita and features joint contractures, pterygia, and respiratory distress. Similar findings…

  Authors: Katrin Hoffmann, Juliane S Muller, Sigmar Stricker, Andre Megarbane, Anna Rajab, Tom H Lindner, Monika Cohen, Eliane Chouery, Lynn Adaimy, Ismat Ghanem,…

  Source: American journal of human genetics. 2006 Aug

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• Risk of developing a mitochondrial DNA deletion disorder.

  BACKGROUND: Pathogenic mitochondrial DNA (mtDNA) mutations are found in at least one in 8000 individuals. No effective treatment for mtDNA disorders i…

  Authors: Patrick F Chinnery, Salvatore DiMauro, Sara Shanske, Eric A Schon, Massimo Zeviani, Caterina Mariotti, Fanco Carrara, Anne Lombes, Pascal Laforet, Helène Ogier,…

  Source: Lancet. 2004 Aug 14-20

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• Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.

  Mitochondrial DNA (mtDNA) mutations are a major cause of human disease. A large number of different molecular defects ultimately compromise oxidative …

  Authors: Gavin Hudson, Sharon Keers, Patrick Yu Wai Man, Philip Griffiths, Kirsi Huoponen, Marja-Liisa Savontaus, Eeva Nikoskelainen, Massimo Zeviani, Franco Carrara, Rita Horvath,…

  Source: American journal of human genetics. 2005 Dec

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• Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

  Defects of mitochondrial polymerase gamma (POLG) underlie neurological diseases ranging from myopathies to parkinsonism and infantile Alpers syndrome.…

  Authors: Petri T Luoma, Ningguang Luo, Wolfgang N Löscher, Carol L Farr, Rita Horvath, Julia Wanschitz, Stefan Kiechl, Laurie S Kaguni, Anu Suomalainen

  Source: Human molecular genetics. 2005 Jul 15

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• Altered cerebral glucose metabolism in a family with clinical features resembling mitochondrial neurogastrointestinal encephalomyopathy syndrome in association with multiple mitochondrial DNA deletions.

  OBJECTIVE: To determine the involvement of cerebral metabolism in 2 siblings with mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGI…

  Authors: Fritz-Georg Lehnhardt, Rita Horvath, Roland Ullrich, Lutz Kracht, Jan Sobesky, Walter Möller-Hartmann, Andreas H Jacobs, Walter F Haupt

  Source: Archives of neurology. 2008 Mar

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