Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease

CJR Dunning, M McKenzie, C Sugiana, M Lazarou, J Silke, A Connelly, JM Fletcher, DM Kirby, DR Thorburn and MT Ryan* Department of Biochemistry, La Trobe University, Melbourne, Australia; Murdoch Childrens Research Institute and Genetic Health Services Victoria, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne, Australia and Department of Genetic Medicine, Women’s and Children’s Hospital and University of Adelaide, Adelaide, Australia

[1]  N. Pfanner,et al.  The protein import machinery of mitochondria , 2007 .

[2]  Rutger O. Vogel,et al.  Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients. , 2007, Molecular genetics and metabolism.

[3]  M. Lazarou,et al.  Analysis of mitochondrial subunit assembly into respiratory chain complexes using Blue Native polyacrylamide gel electrophoresis. , 2007, Analytical biochemistry.

[4]  M. Lazarou,et al.  Analysis of the Assembly Profiles for Mitochondrial- and Nuclear-DNA-Encoded Subunits into Complex I , 2007, Molecular and Cellular Biology.

[5]  Rutger O. Vogel,et al.  Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly. , 2007, Genes & development.

[6]  F. Fontanesi,et al.  Assembly of mitochondrial cytochrome c-oxidase, a complicated and highly regulated cellular process. , 2006, American journal of physiology. Cell physiology.

[7]  John E. Walker,et al.  Bovine Complex I Is a Complex of 45 Different Subunits* , 2006, Journal of Biological Chemistry.

[8]  M. Lazarou,et al.  Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients. , 2006, Journal of molecular biology.

[9]  H. Fukui,et al.  Cytochrome c Oxidase Is Required for the Assembly/Stability of Respiratory Complex I in Mouse Fibroblasts , 2006, Molecular and Cellular Biology.

[10]  Matthew S. Sachs,et al.  Early nonsense: mRNA decay solves a translational problem , 2006, Nature Reviews Molecular Cell Biology.

[11]  E. Shoubridge,et al.  A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. , 2005, The Journal of clinical investigation.

[12]  Rutger O. Vogel,et al.  Human mitochondrial complex I assembly is mediated by NDUFAF1 , 2005, The FEBS journal.

[13]  M. Huynen,et al.  Tracing the evolution of a large protein complex in the eukaryotes, NADH:ubiquinone oxidoreductase (Complex I). , 2005, Journal of molecular biology.

[14]  Joana Assunção,et al.  Composition of complex I from Neurospora crassa and disruption of two "accessory" subunits. , 2005, Biochimica et biophysica acta.

[15]  D. Stojanovski,et al.  Dissection of the Mitochondrial Import and Assembly Pathway for Human Tom40* , 2005, Journal of Biological Chemistry.

[16]  A. Ohtake,et al.  Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders. , 2004, Biochimica et biophysica acta.

[17]  P. Bénit,et al.  AIF deficiency compromises oxidative phosphorylation , 2004, The EMBO journal.

[18]  Rutger O. Vogel,et al.  Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies. , 2004, Human molecular genetics.

[19]  D. Turnbull,et al.  Mutations of the mitochondrial ND1 gene as a cause of MELAS , 2004, Journal of Medical Genetics.

[20]  Robert W. Taylor,et al.  NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. , 2004, The Journal of clinical investigation.

[21]  C. Bruno,et al.  Respiratory complex III is required to maintain complex I in mammalian mitochondria. , 2004, Molecular cell.

[22]  J. Smeitink,et al.  Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency. , 2004, Human molecular genetics.

[23]  E. Shoubridge,et al.  Identification and Characterization of a Common Set of Complex I Assembly Intermediates in Mitochondria from Patients with Complex I Deficiency* , 2003, Journal of Biological Chemistry.

[24]  A. Jon Stoessl,et al.  Etiology of Parkinson's Disease , 2003, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

[25]  K. Truscott,et al.  Insertion and Assembly of Human Tom7 into the Preprotein Translocase Complex of the Outer Mitochondrial Membrane* , 2002, The Journal of Biological Chemistry.

[26]  R. Sprengel,et al.  ER‐based double icre fusion protein allows partial recombination in forebrain , 2002, Genesis.

[27]  J. Smeitink,et al.  CIA30 complex I assembly factor: a candidate for human complex I deficiency? , 2002, Human Genetics.

[28]  H. Schägger Respiratory Chain Supercomplexes , 2001, IUBMB life.

[29]  N. Pfanner,et al.  Protein Import Channel of the Outer Mitochondrial Membrane: a Highly Stable Tom40-Tom22 Core Structure Differentially Interacts with Preproteins, Small Tom Proteins, and Import Receptors , 2001, Molecular and Cellular Biology.

[30]  B. J. Hanson,et al.  Human Complex I Defects Can Be Resolved by Monoclonal Antibody Analysis into Distinct Subunit Assembly Patterns* , 2001, The Journal of Biological Chemistry.

[31]  K. Pfeiffer,et al.  Supercomplexes in the respiratory chains of yeast and mammalian mitochondria , 2000, The EMBO journal.

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

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

[34]  F. Gage,et al.  In Vivo Gene Delivery and Stable Transduction of Nondividing Cells by a Lentiviral Vector , 1996, Science.

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

[36]  T. Lithgow,et al.  Prechaperonin 60 and preornithine transcarbamylase share components of the import apparatus but have distinct maturation pathways in rat liver mitochondria. , 1993, European journal of biochemistry.

[37]  U. Nehls,et al.  Characterization of assembly intermediates of NADH:ubiquinone oxidoreductase (complex I) accumulated in Neurospora mitochondria by gene disruption. , 1992, Journal of molecular biology.

[38]  H. Schägger,et al.  Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form. , 1991, Analytical biochemistry.

[39]  U. Nehls,et al.  Assembly of NADH: ubiquinone reductase (complex I) in Neurospora mitochondria. Independent pathways of nuclear-encoded and mitochondrially encoded subunits. , 1990, Journal of molecular biology.

[40]  H. Schägger,et al.  Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa. , 1987, Analytical biochemistry.

[41]  Marvin B. Shapiro,et al.  RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. , 1987, Nucleic acids research.

[42]  A. Dunn,et al.  Effect of deletions within the leader peptide of pre-ornithine transcarbamylase on mitochondrial import. , 1986, European journal of biochemistry.

[43]  Ια,et al.  Energy Converting NADH : Quinone Oxidoreductase ( Complex I ) , 2012 .

[44]  N. Pfanner,et al.  Hsp70 proteins in protein translocation. , 2001, Advances in protein chemistry.

[45]  N. Pfanner,et al.  Assaying protein import into mitochondria. , 2001, Methods in cell biology.

[46]  G. Lenaz,et al.  Isolation and subfractionation of mitochondria from animal cells and tissue culture lines. , 2001, Methods in cell biology.

[47]  E. Harlow,et al.  Using Antibodies: A Laboratory Manual , 1999 .

[48]  A. Chomyn In vivo labeling and analysis of human mitochondrial translation products. , 1996, Methods in enzymology.