Literature DB >> 9686359

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

J Loeffen1, R Smeets, J Smeitink, W Ruitenbeek, A Janssen, E Mariman, R Sengers, F Trijbels, L van den Heuvel.   

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Year:  1998        PMID： 9686359     DOI： 10.1023/a:1005339332062

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


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  15 in total

Review 1.  The NADH:ubiquinone oxidoreductase (complex I) of respiratory chains.

Authors:  J E Walker
Journal:  Q Rev Biophys       Date:  1992-08       Impact factor: 5.318

2.  Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I.

Authors:  O Zhuchenko; M Wehnert; J Bailey; Z S Sun; C C Lee
Journal:  Genomics       Date:  1996-11-01       Impact factor: 5.736

Review 3.  The mitochondrial electron transport and oxidative phosphorylation system.

Authors:  Y Hatefi
Journal:  Annu Rev Biochem       Date:  1985       Impact factor: 23.643

4.  Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene.

Authors:  R de Coo; P Buddiger; H Smeets; A Geurts van Kessel; J Morgan-Hughes; D O Weghuis; J Overhauser; B van Oost
Journal:  Genomics       Date:  1995-04-10       Impact factor: 5.736

5.  Structural organization and chromosomal localization of the human nuclear gene (NDUFV2) for the 24-kDa iron-sulfur subunit of complex I in mitochondrial respiratory chain.

Authors:  N Hattori; H Suzuki; Y Wang; S Minoshima; N Shimizu; H Yoshino; R Kurashima; M Tanaka; T Ozawa; Y Mizuno
Journal:  Biochem Biophys Res Commun       Date:  1995-11-22       Impact factor: 3.575

Review 6.  Lacticacidemia.

Authors:  B H Robinson
Journal:  Biochim Biophys Acta       Date:  1993-10-20

7.  The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome.

Authors:  J Z Gu; X Lin; D E Wells
Journal:  Genomics       Date:  1996-07-01       Impact factor: 5.736

8.  Possible X linked congenital mitochondrial cardiomyopathy in three families.

Authors:  K H Orstavik; F Skjörten; M Hellebostad; P Hågå; A Langslet
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

9.  Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.

Authors:  J K Ploos van Amstel; A J Bergman; E A van Beurden; J F Roijers; T Peelen; I E van den Berg; B T Poll-The; E A Kvittingen; R Berger
Journal:  Hum Genet       Date:  1996-01       Impact factor: 4.132

Review 10.  Mitochondrial diseases.

Authors:  M Zeviani; F Taroni
Journal:  Baillieres Clin Neurol       Date:  1994-08
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  6 in total

1.  The NDUFA1 gene product (MWFE protein) is essential for activity of complex I in mammalian mitochondria.

Authors:  H C Au; B B Seo; A Matsuno-Yagi; T Yagi; I E Scheffler
Journal:  Proc Natl Acad Sci U S A       Date:  1999-04-13       Impact factor: 11.205

Review 2.  Molecular genetics of the mammalian NADH-ubiquinone oxidoreductase.

Authors:  I E Scheffler; N Yadava
Journal:  J Bioenerg Biomembr       Date:  2001-06       Impact factor: 2.945

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

5.  Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain.

Authors:  I Wittig; P Augstein; G K Brown; T Fujii; A Rötig; P Rustin; A Munnich; P Seibel; D Thorburn; B Wissinger; K Tamboom; A Metspalu; E Lamantea; M Zeviani; M S Wehnert
Journal:  J Inherit Metab Dis       Date:  2001-02       Impact factor: 4.982

6.  The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.

Authors:  J Loeffen; J Smeitink; R Triepels; R Smeets; M Schuelke; R Sengers; F Trijbels; B Hamel; R Mullaart; L van den Heuvel
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025
  6 in total

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