Výsledky vyhledávání - "Nancy G. Kennaway"

A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy

Autor: Nancy G. Kennaway, Eric A. Shoubridge, Isla Ogilvie

Publikováno v: Journal of Clinical Investigation. 115:2784-2792

NADH:ubiquinone oxidoreductase (complex I) deficiency is a common cause of mitochondrial oxidative phosphorylation disease. It is associated with a wide range of clinical phenotypes in infants, including Leigh syndrome, cardiomyopathy, and encephalom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63cab598fdd07a175e324e87b10cae88
https://doi.org/10.1172/jci26020

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Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes

Autor: Neil R. M. Buist, Nancy G. Kennaway, Roberto Anitori, Eric A. Shoubridge, Franklin Quan, Kara Manning, Richard G. Weleber

Publikováno v: Molecular Genetics and Metabolism. 84:176-188

We studied three patients, each harboring a novel mutation at a highly conserved position in a different mitochondrial tRNA gene. The mutation in patient 1 (T5543C) was associated with isolated mitochondrial myopathy, and occurred in the anticodon lo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bb60461a15639a47d86a2962f32931d
https://doi.org/10.1016/j.ymgme.2004.10.003

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Identification and Characterization of a Common Set of Complex I Assembly Intermediates in Mitochondria from Patients with Complex I Deficiency

Autor: Eric A. Shoubridge, Tanja Taivassalo, John Vissing, Ronald G. Haller, Hana Antonicka, Nancy G. Kennaway, Roberto P. Anitori, Isla Ogilvie

Publikováno v: Journal of Biological Chemistry. 278:43081-43088

Deficiencies in the activity of complex I (NADH: ubiquinone oxidoreductase) are an important cause of human mitochondrial disease. Complex I is composed of at least 46 structural subunits that are encoded in both nuclear and mitochondrial DNA. Enzyme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42c359c926960c22c07309e1ca40f51d
https://doi.org/10.1074/jbc.m304998200

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Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

Autor: Nancy G. Kennaway, Michaela Jaksch, Hana Antonicka, Cary O. Harding, Eric A. Shoubridge, Jeffrey N. Agar, Scot C. Leary, Rita Horvath, Guy Hellen Guercin

Publikováno v: Human Molecular Genetics. 12:2693-2702

Deficiencies in the activity of cytochrome c oxidase (COX) are an important cause of autosomal recessive respiratory chain disorders. Patients with isolated COX deficiency are clinically and genetically heterogeneous, and mutations in several differe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69b08125119147960707e5a956fe939b
https://doi.org/10.1093/hmg/ddg284

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Aerobic conditioning in patients with mitochondrial myopathies: Physiological, biochemical, and genetic effects

Autor: Salvatore Dimauro, Douglas L. Arnold, Tanja Taivassalo, Ronald G. Haller, Nancy G. Kennaway, Eric A. Shoubridge, Jacqueline T. Chen

Publikováno v: Annals of Neurology. 50:133-141

Aerobic training has been shown to increase work and oxidative capacity in patients with mitochondrial myopathies, but the mechanisms underlying improvement are not known. We evaluated physiological (cycle exercise, 31P-MRS), biochemical (enzyme leve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1c2d97ee72ff02ed0239c7e8bc69371
https://doi.org/10.1002/ana.1050

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Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b Gene

Autor: Nancy G. Kennaway, J. Andrew Keightley, Neil R. M. Buist, Roberto Anitori, Franklin Quan, Miriam D. Burton

Publikováno v: The American Journal of Human Genetics. 67(6):1400-1410

We have reinvestigated a young woman, originally reported by us in 1983, who presented with exercise intolerance and lactic acidosis associated with severe deficiency of complex III and who responded to therapy with menadione and ascorbate. Gradually

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbe19c132c99a1c34fa72876266f5adb

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Diabetes and Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): Radiolabeled Polymerase Chain Reaction Is Necessary for Accurate Detection of Low Percentages of Mutation1

Autor: Xiao-Yun Hua, Nancy G. Kennaway, Richard H. Haas, Margaret L. Smith, Deborah Marsden, Kim-Yen Ngo, Dou Liu

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 82:2826-2831

A 6-yr-old boy presented with muscle weakness, lactic acidemia, and insulin-dependent diabetes mellitus (IDDM). Using PCR and restriction enzyme analysis, he was found to have the classical A3243G mitochondrial DNA (mtDNA) mutation frequently associa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::52acd0212af535b8e1f704267ae39ba7
https://doi.org/10.1210/jcem.82.9.4222

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GYRATE ATROPHY-LIKE PHENOTYPE WITH NORMAL PLASMA ORNITHINE

Autor: Michael H. Foerster, Nancy G. Kennaway, Ulrich Kellner, Richard G. Weleber, Gerald A. Fishman

Publikováno v: Retina. 17:403-413

PURPOSE To describe the clinical characteristics of a chorioretinal disease with a gyrate atrophy-like phenotype and normal plasma ornithine. METHODS One family with three men who had progressive chorioretinal disease and three additional patients wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7efde98616183a61986c9c375473908
https://doi.org/10.1097/00006982-199717050-00008

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