Literature DB >> 9545512

Saguenay Lac Saint Jean cytochrome oxidase deficiency: sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc.

N Lee1, C Morin, G Mitchell, B H Robinson.   

Abstract

A biochemically distinct form of cytochrome oxidase (COX) deficiency found in the Saguenay region of Quebec is an autosomal recessive trait. The cDNA sequences of all 10 nuclear-encoded subunits from a patient's fibroblasts showed normal coding sequence. Sequences for subunit VIc in two atypical patients showed a heterozygous base substitution. Subunit VIc was localized to chromosome 18.

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Year:  1998        PMID： 9545512     DOI： 10.1016/s0925-4439(98)00003-9

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN： 0006-3002


  3 in total

1.  A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16.

Authors:  N Lee; M J Daly; T Delmonte; E S Lander; F Xu; T J Hudson; G A Mitchell; C C Morin; B H Robinson; J D Rioux
Journal:  Am J Hum Genet       Date:  2001-01-10       Impact factor: 11.025

2.  A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.

Authors:  S Rahman; J W Taanman; J M Cooper; I Nelson; I Hargreaves; B Meunier; M G Hanna; J J García; R A Capaldi; B D Lake; J V Leonard; A H Schapira
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

Review 3.  Oxygen metabolism and a potential role for cytochrome c oxidase in the Warburg effect.

Authors:  Paul C Herrmann; E Clifford Herrmann
Journal:  J Bioenerg Biomembr       Date:  2007-06       Impact factor: 2.945
  3 in total

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