Literature DB >> 9048877

A human cDNA encoding the homologue of NADH: ubiquinone oxidoreductase subunit B13.

I Pata1, K Tensing, A Metspalu.   

Abstract

A cDNA encoding the human homologue of bovine NADH:ubiquinone oxidoreductase (complex I of mitochondrial respiratory chain) subunit B13 has been isolated. The clone contains an open reading frame of 348 bp, 23 bp of 5'-untranslated sequence (UTR) and a long 3'UTR of 1088 bp. The deduced amino-acid sequence is 87% identical to bovine B13. Human B13 mRNA expression was observed in all tissues examined with highest levels in heart, skeletal muscle and brain. Southern analysis of human genomic DNA revealed the presence of multigene family.

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Year:  1997        PMID： 9048877     DOI： 10.1016/s0167-4781(96)00208-4

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


  4 in total

1.  The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection.

Authors:  J Loeffen; R Smeets; J Smeitink; W Ruitenbeek; A Janssen; E Mariman; R Sengers; F Trijbels; L van den Heuvel
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

2.  Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.

Authors:  L van den Heuvel; W Ruitenbeek; R Smeets; Z Gelman-Kohan; O Elpeleg; J Loeffen; F Trijbels; E Mariman; D de Bruijn; J Smeitink
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

3.  The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology.

Authors:  R Triepels; J Smeitink; J Loeffen; R Smeets; C Buskens; F Trijbels; L van den Heuvel
Journal:  J Inherit Metab Dis       Date:  1999-04       Impact factor: 4.982

4.  The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients.

Authors:  J Loeffen; R Smeets; J Smeitink; R Triepels; R Sengers; F Trijbels; L van den Heuvel
Journal:  J Inherit Metab Dis       Date:  1999-02       Impact factor: 4.982
  4 in total

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