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Titolo:
Human NADH : ubiquinone oxidoreductase
Autore:
Smeitink, J; Sengers, R; Trijbels, F; van den Heuvel, L;
Indirizzi:
Univ Nijmegen, Ctr Med, Dept Pediat, Nijmegen Ctr Mitochondrial Disorders,Nijmegen, Netherlands Univ Nijmegen Nijmegen Netherlands rial Disorders,Nijmegen, Netherlands
Titolo Testata:
JOURNAL OF BIOENERGETICS AND BIOMEMBRANES
fascicolo: 3, volume: 33, anno: 2001,
pagine: 259 - 266
SICI:
0145-479X(200106)33:3<259:HN:UO>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
MITOCHONDRIAL COMPLEX-I; ELECTRON-TRANSPORT CHAIN; RESPIRATORY-CHAIN; GENOMIC ORGANIZATION; MOLECULAR-CLONING; AQDQ SUBUNIT; GENE NDUFV2; DEFICIENCY; MUTATION; DNA;
Keywords:
mitochondria oxphos; complex I; humane review;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
41
Recensione:
Indirizzi per estratti:
Indirizzo: Smeitink, J Univ Nijmegen, Ctr Med, Dept Pediat, Nijmegen Ctr Mitochondrial Disorders,Nijmegen, Netherlands Univ Nijmegen Nijmegen Netherlands rs,Nijmegen, Netherlands
Citazione:
J. Smeitink et al., "Human NADH : ubiquinone oxidoreductase", J BIOENER B, 33(3), 2001, pp. 259-266

Abstract

NADH:ubiquinone oxidoreductase consists of at least 43 proteins; seven areencoded by the mitochondrial genome, while the remainder are encoded by the nuclear genome. A deficient activity of this enzyme complex is frequentlyobserved in the clinical heterogeneous group of mitochondrial disorders, with Leigh (-like) disease as the main contributor. Enzyme complex activity measurement in skeletal muscle is the mainstay of the diagnostic process. Fibroblast studies are a prerequisite whenever prenatal enzyme diagnosis is considered. Mitochondrial DNA mutations are found in approximately 5-10% ofall complex I deficiencies. Recently, all structural nuclear complex I genes have been determined at the cDNA level and several at the gDNA level. A comprehensive mutational analysis study of all complex I nuclear genes in agroup of 20 patients exhibiting this deficiency revealed mutations in about 40%. Here, we describe the enzymic methods we use and the recent progressmade in genomics and cell biology of human complex I.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/01/20 alle ore 21:46:01