Literature DB >> 3136150

Molecular defects of NADH-ubiquinone oxidoreductase (complex I) in mitochondrial diseases.

J A Morgan-Hughes1, A H Schapira, J M Cooper, J B Clark.   

Abstract

Defects in Complex I of the mitochondrial respiratory chain have been identified in 38 patients. The clinical and laboratory features are reviewed and the results of recently devised strategies aimed at characterizing the primary molecular and genetic abnormalities are presented. Although not exhaustive, these studies have provided a molecular basis for the contention that defects in Complex I may have their origin in nuclear or in mitochondrial genes.

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Year:  1988        PMID： 3136150     DOI： 10.1007/bf00769638

Source DB:  PubMed          Journal:  J Bioenerg Biomembr        ISSN： 0145-479X            Impact factor:   2.945


  56 in total

1.  Translocation intermediates on the import pathway of proteins into mitochondria.

Authors:  F U Hartl; N Pfanner; W Neupert
Journal:  Biochem Soc Trans       Date:  1987-02       Impact factor: 5.407

2.  Cleavage of structural proteins during the assembly of the head of bacteriophage T4.

Authors:  U K Laemmli
Journal:  Nature       Date:  1970-08-15       Impact factor: 49.962

Review 3.  How mitochondria import proteins.

Authors:  R Hay; P Böhni; S Gasser
Journal:  Biochim Biophys Acta       Date:  1984-01-27

4.  Purification of three iron-sulfur proteins from the iron-protein fragment of mitochondrial NADH-ubiquinone oxidoreductase.

Authors:  C I Ragan; Y M Galante; Y Hatefi
Journal:  Biochemistry       Date:  1982-05-11       Impact factor: 3.162

5.  The primary structure of subunit II of NADH dehydrogenase from bovine-heart mitochondria.

Authors:  H von Bahr-Lindström; Y M Galante; M Persson; H Jörnvall
Journal:  Eur J Biochem       Date:  1983-07-15

6.  Low temperature electron paramagnetic resonance studies on iron-sulfur centers in cardiac NADH dehydrogenase.

Authors:  T Onishi; J S Leigh; C I Ragan; E Racker
Journal:  Biochem Biophys Res Commun       Date:  1974-02-04       Impact factor: 3.575

7.  Sequence and organization of the human mitochondrial genome.

Authors:  S Anderson; A T Bankier; B G Barrell; M H de Bruijn; A R Coulson; J Drouin; I C Eperon; D P Nierlich; B A Roe; F Sanger; P H Schreier; A J Smith; R Staden; I G Young
Journal:  Nature       Date:  1981-04-09       Impact factor: 49.962

8.  A mitochondrial encephalomyopathy with cardiomyopathy. A case revealing a defect of complex I in the respiratory chain.

Authors:  M Nishizawa; K Tanaka; K Shinozawa; T Kuwabara; T Atsumi; T Miyatake; E Ohama
Journal:  J Neurol Sci       Date:  1987-04       Impact factor: 3.181

9.  Photoaffinity labelling of mitochondrial NADH dehydrogenase with arylazidoamorphigenin, an analogue of rotenone.

Authors:  F G Earley; C I Ragan
Journal:  Biochem J       Date:  1984-12-01       Impact factor: 3.857

10.  Integrity of mitochondria in a mammalian cell mutant defective in mitochondrial protein synthesis.

Authors:  K G Burnett; I E Scheffler
Journal:  J Cell Biol       Date:  1981-07       Impact factor: 10.539
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  13 in total

1.  Cloning of the human NADH: ubiquinone oxidoreductase subunit B13: localization to chromosome 7q32 and identification of a pseudogene on 11p15.

Authors:  M W Russell; S du Manoir; F S Collins; L C Brody
Journal:  Mamm Genome       Date:  1997-01       Impact factor: 2.957

2.  cDNA of the 24 kDa subunit of the bovine respiratory chain NADH dehydrogenase: high sequence conservation in mammals and tissue-specific and growth-dependent expression.

Authors:  A Chomyn; S S Lai
Journal:  Curr Genet       Date:  1989-08       Impact factor: 3.886

Review 3.  Mitochondrial matters of the brain: the role in Huntington's disease.

Authors:  C Turner; A H V Schapira
Journal:  J Bioenerg Biomembr       Date:  2010-06       Impact factor: 2.945

4.  Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts.

Authors:  V Procaccio; B Mousson; R Beugnot; H Duborjal; F Feillet; G Putet; I Pignot-Paintrand; A Lombès; R De Coo; H Smeets; J Lunardi; J P Issartel
Journal:  J Clin Invest       Date:  1999-07       Impact factor: 14.808

5.  A case of mitochondrial myopathy, lactic acidosis and complex I deficiency.

Authors:  L Bet; N Bresolin; M Moggio; G Meola; A Prelle; A H Schapira; T Binzoni; A Chomyn; F Fortunato; P Cerretelli
Journal:  J Neurol       Date:  1990-11       Impact factor: 4.849

6.  Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria.

Authors:  N J Watmough; L A Bindoff; M A Birch-Machin; S Jackson; K Bartlett; C I Ragan; J Poulton; R M Gardiner; H S Sherratt; D M Turnbull
Journal:  J Clin Invest       Date:  1990-01       Impact factor: 14.808

7.  Vitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis.

Authors:  H D Bakker; H R Scholte; J A Jeneson; H F Busch; N G Abeling; A H van Gennip
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

8.  Epilepsy in a mitochondrial disorder.

Authors:  T Torbergsen; E Mathiesen; J Aasly
Journal:  J Neurol Neurosurg Psychiatry       Date:  1991-12       Impact factor: 10.154

9.  Congenital deficiency of a 20-kDa subunit of mitochondrial complex I in fibroblasts.

Authors:  D M Slipetz; P R Goodyer; R Rozen
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

10.  Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficiencies.

Authors:  J Müller-Höcker; H Ibel; I Paetzke; T Deufel; W Endres; B Kadenbach; J M Gokel; G Hübner
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1991
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