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Literature DB >> 15372098

Complements of the house.

Abstract

Finding mutations in nuclear genes responsible for disorders in the mitochondrial oxidative phosphorylation system has been a tedious matter. A "Venn diagram" approach--not unlike a classic complementation experiment--reported in this issue will now make the search easier.

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Year: 2004 PMID： 15372098 PMCID： PMC516272 DOI： 10.1172/JCI22942

Source DB: PubMed Journal: J Clin Invest ISSN： 0021-9738 Impact factor: 14.808

6 in total

Review 1. Mitochondrial respiratory-chain diseases.

Authors: Salvatore DiMauro; Eric A Schon
Journal: N Engl J Med Date: 2003-06-26 Impact factor: 91.245

Review 2. Genetic defects in the oxidative phosphorylation (OXPHOS) system.

Authors: Rolf J R J Janssen; Lambert P van den Heuvel; Jan A M Smeitink
Journal: Expert Rev Mol Diagn Date: 2004-03 Impact factor: 5.225

3. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.

Authors: Z Zhu; J Yao; T Johns; K Fu; I De Bie; C Macmillan; A P Cuthbert; R F Newbold; J Wang; M Chevrette; G K Brown; R M Brown; E A Shoubridge
Journal: Nat Genet Date: 1998-12 Impact factor: 38.330

4. NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.

Authors: Denise M Kirby; Renato Salemi; Canny Sugiana; Akira Ohtake; Lee Parry; Katrina M Bell; Edwin P Kirk; Avihu Boneh; Robert W Taylor; Hans-Henrik M Dahl; Michael T Ryan; David R Thorburn
Journal: J Clin Invest Date: 2004-09 Impact factor: 14.808

5. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.

Authors: Vamsi K Mootha; Pierre Lepage; Kathleen Miller; Jakob Bunkenborg; Michael Reich; Majbrit Hjerrild; Terrye Delmonte; Amelie Villeneuve; Robert Sladek; Fenghao Xu; Grant A Mitchell; Charles Morin; Matthias Mann; Thomas J Hudson; Brian Robinson; John D Rioux; Eric S Lander
Journal: Proc Natl Acad Sci U S A Date: 2003-01-14 Impact factor: 11.205

6. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

Authors: V Tiranti; K Hoertnagel; R Carrozzo; C Galimberti; M Munaro; M Granatiero; L Zelante; P Gasparini; R Marzella; M Rocchi; M P Bayona-Bafaluy; J A Enriquez; G Uziel; E Bertini; C Dionisi-Vici; B Franco; T Meitinger; M Zeviani
Journal: Am J Hum Genet Date: 1998-12 Impact factor: 11.025

6 in total

4 in total

1. Mutations in cytochrome c oxidase subunit VIa cause neurodegeneration and motor dysfunction in Drosophila.

Authors: Wensheng Liu; Radhakrishnan Gnanasambandam; Jeffery Benjamin; Gunisha Kaur; Patricia B Getman; Alan J Siegel; Randall D Shortridge; Satpal Singh
Journal: Genetics Date: 2007-04-15 Impact factor: 4.562

2. In utero exposure of female CD-1 mice to AZT and/or 3TC: II. Persistence of functional alterations in cardiac tissue.

Authors: Salina M Torres; Rao L Divi; Dale M Walker; Consuelo L McCash; Meghan M Carter; Matthew J Campen; Tracey L Einem; Yvonne Chu; Steven K Seilkop; Huining Kang; Miriam C Poirier; Vernon E Walker
Journal: Cardiovasc Toxicol Date: 2010-06 Impact factor: 3.231

Review 3. Mouse models of oxidative phosphorylation defects: powerful tools to study the pathobiology of mitochondrial diseases.

Authors: Alessandra Torraco; Francisca Diaz; Uma D Vempati; Carlos T Moraes
Journal: Biochim Biophys Acta Date: 2008-06-13

4. Apparent polyploidization after gamma irradiation: pitfalls in the use of quantitative polymerase chain reaction (qPCR) for the estimation of mitochondrial and nuclear DNA gene copy numbers.

Authors: Winnie W Y Kam; Vanessa Lake; Connie Banos; Justin Davies; Richard Banati
Journal: Int J Mol Sci Date: 2013-05-30 Impact factor: 5.923

4 in total