CIA30 complex I assembly factor: a candidate for human complex I deficiency?
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J. Smeitink | L. P. Van den Heuvel | R. Smeets | R. Janssen | Jan Smeitink | Rolf Janssen | Roel Smeets | Lambert van den Heuvel
[1] D. Wallace,et al. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. , 1994, Proceedings of the National Academy of Sciences of the United States of America.
[2] L. V. D. Heuvel,et al. The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology , 1999, Journal of Inherited Metabolic Disease.
[3] J. Walker,et al. The NADH:ubiquinone oxidoreductase (complex I) of respiratory chains , 1992, Quarterly Reviews of Biophysics.
[4] E. Mariman,et al. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy , 1999, Nature Genetics.
[5] P. Barth,et al. Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I , 1999, Annals of neurology.
[6] S. Dimauro,et al. The genetics and pathology of oxidative phosphorylation , 2001, Nature Reviews Genetics.
[7] 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.
[8] M. Murphy,et al. Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations. , 1996, The Biochemical journal.
[9] P. Bénit,et al. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. , 2001, American journal of human genetics.
[10] 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.
[11] R. Scarpulla,et al. Identity of GABP with NRF-2, a multisubunit activator of cytochrome oxidase expression, reveals a cellular role for an ETS domain activator of viral promoters. , 1993, Genes & development.
[12] E. Bertini,et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. , 1998, American journal of human genetics.
[13] B. Hamel,et al. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. , 1998, American journal of human genetics.
[14] J. Smeitink,et al. The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients , 1998, Human Genetics.
[15] N. Howell,et al. Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. , 1991, American journal of human genetics.
[16] M. Wikström,et al. Electron transfer properties of NADH: Ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON) , 1991, FEBS letters.
[17] 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.
[18] R. Küffner,et al. Involvement of two novel chaperones in the assembly of mitochondrial NADH:Ubiquinone oxidoreductase (complex I). , 1998, Journal of molecular biology.
[19] E. Shoubridge,et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome , 1998, Nature Genetics.
[20] L. P. Van den Heuvel,et al. Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects , 2000, Human mutation.
[21] 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.
[22] M. Wong-Riley,et al. Human nuclear respiratory factor 2α subunit cDNA: Isolation, subcloning, sequencing, and in situ hybridization of transcripts in normal and monocularly deprived macaque visual system , 2000, The Journal of comparative neurology.
[23] J. Smeitink,et al. Mutation in the NDUFS4 gene of complex I abolishes cAMP‐dependent activation of the complex in a child with fatal neurological syndrome , 2001, FEBS letters.
[24] 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.
[25] J. Smeitink,et al. Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I , 1998, Human Genetics.