Literature DB >> 12408191

Cytochrome oxidase deficiency in Lowe syndrome.

P M Cifelli1, I Hargreaves, S Grünewald.   

Abstract

We report on a patient with complex IV deficiency who in later clinical course was diagnosed as a Lowe syndrome. Mitochondrial abnormalities can be present in Lowe syndrome and might lead to misdiagnosis, additionally because clinical features can be overlapping.

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Mesh：

Year:  2002        PMID： 12408191     DOI： 10.1023/a:1020112119716

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  3 in total

1.  The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase.

Authors:  O Attree; I M Olivos; I Okabe; L C Bailey; D L Nelson; R A Lewis; R R McInnes; R L Nussbaum
Journal:  Nature       Date:  1992-07-16       Impact factor: 49.962

2.  Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry?

Authors:  C T Moraes; M Zeviani; E A Schon; R O Hickman; B W Vlcek; S DiMauro
Journal:  Am J Med Genet       Date:  1991-12-01

3.  Mitochondrial defects in Lowe's oculocerebrorenal syndrome.

Authors:  J M Gobernado; M Lousa; A Gimeno; M Gonsalvez
Journal:  Arch Neurol       Date:  1984-02
  3 in total
  2 in total

1.  Additive effects of mitochondrion-targeted cytochrome CYP2E1 and alcohol toxicity on cytochrome c oxidase function and stability of respirosome complexes.

Authors:  Seema Bansal; Satish Srinivasan; Sureshkumar Anandasadagopan; Anindya Roy Chowdhury; Venkatesh Selvaraj; Balaraman Kalyanaraman; Joy Joseph; Narayan G Avadhani
Journal:  J Biol Chem       Date:  2012-03-06       Impact factor: 5.157

2.  Role of nuclear-encoded subunit Vb in the assembly and stability of cytochrome c oxidase complex: implications in mitochondrial dysfunction and ROS production.

Authors:  Domenico Galati; Satish Srinivasan; Haider Raza; Subbuswamy K Prabu; Michael Hardy; Karunakaran Chandran; Marcos Lopez; Balaraman Kalyanaraman; Narayan G Avadhani
Journal:  Biochem J       Date:  2009-05-27       Impact factor: 3.857
  2 in total

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