Human mitochondrial complex I in health and disease.

The authors are very grateful to Prof. Rob Sengers and Prof. Frans Trijbels, who founded the Nijmegen Center for Mitochondrial Disorders >20 years ago and who supported us throughout this large-scale project. We cordially thank all the Ph.D. students (Jan Loeffen, Ralf Triepels, Markus Schuelke, Sandy Budde, and Marieke Coenen) and technicians (Roel Smeets, Carin Buskens, Antoon Janssen, and Frans van den Brand) for their enthusiasm and the work they performed in achieving this first part of our research program. The Prinses Beatrix Fonds, the Stichting voor Kinderen die willen maar niet kunnen, and the Fonds Beoefening Wetenschap of the Nijmegen Children's Hospital are gratefully acknowledged for their financial support.

[1]  J. Smeitink,et al.  Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy , 1989, European Journal of Pediatrics.

[2]  P. Barth,et al.  Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I , 1999, Annals of neurology.

[3]  W. Kimberling,et al.  Human NDUFB9 Gene: Genomic Organization and a Possible Candidate Gene Associated with Deafness Disorder Mapped to Chromosome 8q13 , 1999, Human Heredity.

[4]  E. Mariman,et al.  Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy , 1999, Nature Genetics.

[5]  J. Smeitink,et al.  cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. , 1998, Biochemical and biophysical research communications.

[6]  E. Bertini,et al.  Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. , 1998, American journal of human genetics.

[7]  B. Hamel,et al.  The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. , 1998, American journal of human genetics.

[8]  E. Shoubridge,et al.  SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome , 1998, Nature Genetics.

[9]  J. Skehel,et al.  NADH:ubiquinone oxidoreductase from bovine heart mitochondria: sequence of a novel 17.2‐kDa subunit , 1998, FEBS letters.

[10]  N. Pfanner,et al.  Preprotein Translocase of the Outer Mitochondrial Membrane: Molecular Dissection and Assembly of the General Import Pore Complex , 1998, Molecular and Cellular Biology.

[11]  R. Küffner,et al.  Involvement of two novel chaperones in the assembly of mitochondrial NADH:Ubiquinone oxidoreductase (complex I). , 1998, Journal of molecular biology.

[12]  A. Brookes,et al.  Mapping1 of the NDUFA2, NDUFA6, NDUFA7, NDUFB8, and NDUFS8 electron transport chain genes by intron based radiation hybrid mapping , 1998, Cytogenetic and Genome Research.

[13]  A. Brookes,et al.  lntron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain , 1998, Cytogenetic and Genome Research.

[14]  K. Dietmeier,et al.  Tom40 forms the hydrophilic channel of the mitochondrial import pore for preproteins , 1998, Nature.

[15]  J. Smeitink,et al.  Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art. , 1998, Human molecular genetics.

[16]  O. Mor,et al.  The human Surfeit locus. , 1998, Genomics.

[17]  J. Smeitink,et al.  Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I , 1998, Human Genetics.

[18]  E. Bailey,et al.  Assignment1 of the horse mitochondrial glutamate oxaloacetate transaminase 2 (GOT2) and v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT) to horse chromosome 3 by in situ hybridization , 1998, Cytogenetic and Genome Research.

[19]  L. Wong,et al.  Yield of mtDNA mutation analysis in 2,000 patients. , 1998, American journal of medical genetics.

[20]  B. Robinson.  Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect. , 1998, Biochimica et biophysica acta.

[21]  E. Mariman,et al.  Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma-interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation? , 1998, Biochemical and biophysical research communications.

[22]  N Grigorieff,et al.  Three-dimensional structure of bovine NADH:ubiquinone oxidoreductase (complex I) at 22 A in ice. , 1998, Journal of molecular biology.

[23]  W. Neupert,et al.  Carrier protein import into mitochondria mediated by the intermembrane proteins Tim10/Mrs11 and Tim12/Mrs5 , 1998, Nature.

[24]  K. Leonard,et al.  Consistent structure between bacterial and mitochondrial NADH:ubiquinone oxidoreductase (complex I). , 1998, Journal of molecular biology.

[25]  E. Mariman,et al.  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. , 1998, American journal of human genetics.

[26]  D. Clayton.  Nuclear‐mitochondrial intergenomic communication , 1998, BioFactors.

[27]  C. Moyes,et al.  Regulation of muscle mitochondrial design. , 1998, The Journal of experimental biology.

[28]  G. Shadel,et al.  Mitochondrial DNA maintenance in vertebrates. , 1997, Annual review of biochemistry.

[29]  D. Turnbull,et al.  Deficiency of respiratory chain complex I is a common cause of leigh disease , 1996, Annals of neurology.

[30]  J. Christodoulou,et al.  Leigh syndrome: Clinical features and biochemical and DNA abnormalities , 1996, Annals of neurology.

[31]  Y. Hatefi,et al.  Catalytic sector of complex I (NADH:ubiquinone oxidoreductase): subunit stoichiometry and substrate-induced conformation changes. , 1994, Biochemistry.

[32]  T. Friedrich,et al.  The gene locus of the proton-translocating NADH: ubiquinone oxidoreductase in Escherichia coli. Organization of the 14 genes and relationship between the derived proteins and subunits of mitochondrial complex I. , 1993, Journal of molecular biology.

[33]  J. Walker,et al.  The NADH:ubiquinone oxidoreductase (complex I) of respiratory chains , 1992, Quarterly Reviews of Biophysics.

[34]  D. Wallace,et al.  Diseases of the mitochondrial DNA. , 1992, Annual review of biochemistry.

[35]  Y. Hatefi.  The mitochondrial electron transport and oxidative phosphorylation system. , 1985, Annual review of biochemistry.

[36]  Y. Hatefi,et al.  Purification and molecular and enzymic properties of mitochondrial NADH dehydrogenase. , 1979, Archives of biochemistry and biophysics.

[37]  R. Sengers,et al.  Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise. , 1975, The Journal of pediatrics.

[38]  D. Leigh.  SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT , 1951, Journal of neurology, neurosurgery, and psychiatry.