Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

[1]  M. Abramowicz,et al.  A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome , 2012, Clinical genetics.

[2]  Werner J H Koopman,et al.  Monogenic mitochondrial disorders. , 2012, The New England journal of medicine.

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

[4]  S. Calvo,et al.  The molecular basis of human complex I deficiency , 2011, IUBMB life.

[5]  H. Prokisch,et al.  Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. , 2011, Molecular genetics and metabolism.

[6]  M. Radermacher,et al.  A scaffold of accessory subunits links the peripheral arm and the distal proton-pumping module of mitochondrial complex I. , 2011, The Biochemical journal.

[7]  Morten Duno,et al.  Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome , 2011, Journal of Medical Genetics.

[8]  W. Chung,et al.  Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7 , 2011, Journal of Inherited Metabolic Disease.

[9]  Robert W. Taylor,et al.  Respiratory chain complex I deficiency caused by mitochondrial DNA mutations , 2011, European Journal of Human Genetics.

[10]  R. Rodenburg,et al.  NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease , 2011, European Journal of Human Genetics.

[11]  H. Smeets,et al.  Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. , 2011, Brain : a journal of neurology.

[12]  E. Bertini,et al.  Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1 , 2011, neurogenetics.

[13]  Thomas Meitinger,et al.  Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency , 2010, Nature Genetics.

[14]  A. Legrand,et al.  Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit. , 2010, Molecular genetics and metabolism.

[15]  Rutger O. Vogel,et al.  Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. , 2010, Cell metabolism.

[16]  Robert W. Taylor,et al.  The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families , 2010, Brain : a journal of neurology.

[17]  M. Rivas,et al.  Nature Genetics Advance Online Publication High-throughput, Pooled Sequencing Identifies Mutations in Nubpl and Foxred1 in Human Complex I Deficiency , 2022 .

[18]  Robert W. Taylor,et al.  A neurological perspective on mitochondrial disease , 2010, The Lancet Neurology.

[19]  M. Ryan,et al.  Assembly factors of human mitochondrial complex I and their defects in disease , 2010, IUBMB life.

[20]  R. Rodenburg,et al.  Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies. , 2010, Molecular genetics and metabolism.

[21]  Rouslan G. Efremov,et al.  The architecture of respiratory complex I , 2010, Nature.

[22]  Todd A. Clason,et al.  The structure of eukaryotic and prokaryotic complex I. , 2010, Journal of structural biology.

[23]  A. Munnich,et al.  NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. , 2009, Molecular genetics and metabolism.

[24]  R. Rodenburg,et al.  Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency , 2009, Human mutation.

[25]  Rutger O. Vogel,et al.  Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. , 2009, American journal of human genetics.

[26]  D. Wallace,et al.  A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. , 2009, Molecular genetics and metabolism.

[27]  H. Mandel,et al.  Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews , 2009, European Journal of Human Genetics.

[28]  R. Rodenburg,et al.  Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. , 2008, Brain : a journal of neurology.

[29]  J. Shoffner,et al.  Siblings with leukoencephalopathy. , 2008, Seminars in pediatric neurology.

[30]  Joseph A. Frezzo,et al.  A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family , 2008, Journal of Inherited Metabolic Disease.

[31]  V. Mootha,et al.  Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. , 2008, American journal of human genetics.

[32]  J. Finsterer.  Leigh and Leigh-like syndrome in children and adults. , 2008, Pediatric neurology.

[33]  S. Carr,et al.  A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology , 2008, Cell.

[34]  R. Rodenburg,et al.  NDUFA2 complex I mutation leads to Leigh disease. , 2008, American journal of human genetics.

[35]  D. Zafeiriou,et al.  MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course. , 2008, Neuropediatrics.

[36]  J. Gomori,et al.  The unique neuroradiology of complex I deficiency due to NDUFA12L defect. , 2008, Molecular genetics and metabolism.

[37]  Ann Saada,et al.  Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation , 2008, Annals of neurology.

[38]  Ann Saada,et al.  C6ORF66 is an assembly factor of mitochondrial complex I. , 2008, American journal of human genetics.

[39]  Rutger O. Vogel,et al.  Human mitochondrial complex I assembly: a dynamic and versatile process. , 2007, Biochimica et biophysica acta.

[40]  A. Munnich,et al.  A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome. , 2007, Molecular genetics and metabolism.

[41]  J. Silke,et al.  Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease , 2007, The EMBO journal.

[42]  A. Munnich,et al.  A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome. , 2007, Molecular genetics and metabolism.

[43]  R. Rodenburg,et al.  X‐linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy , 2007, Annals of neurology.

[44]  V. Cormier-Daire,et al.  Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations. , 2007, Pediatric neurology.

[45]  G. Uziel,et al.  A scale to monitor progression and treatment of mitochondrial disease in children , 2006, Neuromuscular Disorders.

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

[47]  J. Smeitink,et al.  Mitochondrial complex I: Structure, function and pathology , 2006, Journal of Inherited Metabolic Disease.

[48]  R. Rodenburg,et al.  Dietary intervention and oxidative phosphorylation capacity , 2006, Journal of Inherited Metabolic Disease.

[49]  R. Rodenburg,et al.  Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology. , 2006, Clinical chemistry.

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

[51]  J. Arenas,et al.  Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. , 2005, Archives of neurology.

[52]  R. Laframboise,et al.  NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings , 1996, Journal of Inherited Metabolic Disease.

[53]  M. Zeviani,et al.  Clinical and molecular findings in children with complex I deficiency. , 2004, Biochimica et biophysica acta.

[54]  J. Belmont,et al.  Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease , 2004, Pediatrics.

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

[56]  D. Wallace,et al.  Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations , 2004, Neurology.

[57]  V. Petruzzella,et al.  Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I , 2003, Journal of Inherited Metabolic Disease.

[58]  P. Bénit,et al.  Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy , 2003, Human mutation.

[59]  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.

[60]  V. Petruzzella,et al.  A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. , 2001, Human molecular genetics.

[61]  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.

[62]  H. Mandel,et al.  Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy , 2001, Annals of neurology.

[63]  L. V. D. Heuvel,et al.  Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. , 2000, Biochemical and biophysical research communications.

[64]  L. P. Van den Heuvel,et al.  Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects , 2000, Human mutation.

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

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

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

[68]  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.

[69]  H. T. ter Laak,et al.  Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle , 1996, Neurology.

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

[71]  D. Schomburg,et al.  Acyl-CoA dehydrogenase , 1993 .

[72]  J. Crapo,et al.  Human Mn-superoxide dismutase in pulmonary epithelial cells of transgenic mice confers protection from oxygen injury. , 1992, The Journal of biological chemistry.

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