Literature DB >> 1478657

The human mitochondrial NADH: ubiquinone oxidoreductase 51-kDa subunit maps adjacent to the glutathione S-transferase P1-1 gene on chromosome 11q13.

S R Spencer1, J B Taylor, I G Cowell, C L Xia, S E Pemble, B Ketterer.   

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Year:  1992        PMID： 1478657     DOI： 10.1016/s0888-7543(05)80144-2

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


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  3 in total

1.  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

2.  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

3.  Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient.

Authors:  Markus Gschwind; Nuria Garcia Segarra; André Schaller; Ramona Bolognini; Jean-Marc Nuoffer; Raphael Hourez; Manuel Deprez; Benoit Lhermitte; Philippe Maeder; Christel Tran; Thierry Kuntzer
Journal:  Ann Clin Transl Neurol       Date:  2022-04-28       Impact factor: 5.430
  3 in total

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