Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.

[1]  F. Tort,et al.  Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia. , 2020, Mitochondrion.

[2]  Y. Okazaki,et al.  A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency , 2020, Clinical genetics.

[3]  T. Meitinger,et al.  Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases , 2020, EBioMedicine.

[4]  Massimo Zeviani,et al.  Respiratory supercomplexes act as a platform for complex III‐mediated maturation of human mitochondrial complexes I and IV , 2020, The EMBO journal.

[5]  S. Beltran,et al.  Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology , 2019, Human mutation.

[6]  Robert W. Taylor,et al.  Recent advances in understanding the molecular genetic basis of mitochondrial disease , 2019, Journal of inherited metabolic disease.

[7]  Ryan L. Collins,et al.  Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes , 2019, bioRxiv.

[8]  Marni J. Falk,et al.  Diagnosis of ‘possible’ mitochondrial disease: an existential crisis , 2019, Journal of Medical Genetics.

[9]  R. Taft,et al.  Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes. , 2019, Molecular genetics and metabolism.

[10]  J. Hirst.  Open questions: respiratory chain supercomplexes—why are they there and what do they do? , 2018, BMC Biology.

[11]  L. Sazanov,et al.  Mammalian Mitochondrial Complex I Structure and Disease-Causing Mutations. , 2018, Trends in cell biology.

[12]  Robert W. Taylor,et al.  Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency , 2018, American journal of human genetics.

[13]  Maojun Yang,et al.  Architecture of Human Mitochondrial Respiratory Megacomplex I2III2IV2 , 2017, Cell.

[14]  L. E. Formosa,et al.  Building a complex complex: Assembly of mitochondrial respiratory chain complex I. , 2017, Seminars in cell & developmental biology.

[15]  C. Ugalde,et al.  Respiratory chain supercomplexes: Structures, function and biogenesis. , 2017, Seminars in cell & developmental biology.

[16]  J. Hirst,et al.  The Enigma of the Respiratory Chain Supercomplex. , 2017, Cell metabolism.

[17]  Ulrich Brandt,et al.  The Assembly Pathway of Mitochondrial Respiratory Chain Complex I. , 2017, Cell metabolism.

[18]  M. Lovell,et al.  Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly , 2016, Human molecular genetics.

[19]  Maojun Yang,et al.  Structure of Mammalian Respiratory Supercomplex I1III2IV1 , 2016, Cell.

[20]  Ann E. Frazier,et al.  Accessory subunits are integral for assembly and function of human mitochondrial complex I , 2016, Nature.

[21]  G. Degliesposti,et al.  Atomic structure of the entire mammalian mitochondrial complex I , 2016, Nature.

[22]  J. Hirst,et al.  Structure of mammalian respiratory complex I , 2016, Nature.

[23]  R. Rodenburg,et al.  Mitochondrial complex I-linked disease. , 2016, Biochimica et biophysica acta.

[24]  L. Scorrano,et al.  Mitochondrial Cristae: Where Beauty Meets Functionality. , 2016, Trends in biochemical sciences.

[25]  J. Enríquez.  Supramolecular Organization of Respiratory Complexes. , 2016, Annual review of physiology.

[26]  P. Ng,et al.  SIFT missense predictions for genomes , 2015, Nature Protocols.

[27]  James Y. Zou.  Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[28]  Gabor T. Marth,et al.  A global reference for human genetic variation , 2015, Nature.

[29]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[30]  L. Scorrano,et al.  Mitochondria: from cell death executioners to regulators of cell differentiation. , 2014, Trends in cell biology.

[31]  Jana Marie Schwarz,et al.  MutationTaster2: mutation prediction for the deep-sequencing age , 2014, Nature Methods.

[32]  C. López-Otín,et al.  Supercomplex Assembly Determines Electron Flux in the Mitochondrial Electron Transport Chain , 2013, Science.

[33]  S. Rahman,et al.  Complex I deficiency: clinical features, biochemistry and molecular genetics , 2012, Journal of Medical Genetics.

[34]  M. Tarnopolsky,et al.  Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases , 2012, Journal of Inherited Metabolic Disease.

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

[36]  M. Huynen,et al.  NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I , 2011, FEBS letters.

[37]  P. Bork,et al.  A method and server for predicting damaging missense mutations , 2010, Nature Methods.

[38]  J. Smeitink,et al.  Mitochondrial dynamics in human NADH:ubiquinone oxidoreductase deficiency. , 2009, The international journal of biochemistry & cell biology.

[39]  J. Enríquez,et al.  Restoration of electron transport without proton pumping in mammalian mitochondria , 2008, Proceedings of the National Academy of Sciences.

[40]  J. Smeitink,et al.  Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology? , 2007, American journal of physiology. Cell physiology.

[41]  Guillaume Sebire,et al.  Blue Native Polyacrylamide Gel Electrophoresis: A Powerful Tool in Diagnosis of Oxidative Phosphorylation Defects , 2001, Pediatric Research.

[42]  D. Trono,et al.  Reversible immortalization of human primary cells by lentivector-mediated transfer of specific genes. , 2000, Molecular therapy : the journal of the American Society of Gene Therapy.

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

[44]  E. Gnaiger,et al.  High-resolution respirometry: OXPHOS protocols for human cells and permeabilized fibers from small biopsies of human muscle. , 2012, Methods in molecular biology.

[45]  Robert W. Taylor,et al.  Biochemical assays of respiratory chain complex activity. , 2007, Methods in cell biology.

[46]  H. Schägger,et al.  Blue native PAGE , 2006, Nature Protocols.

[47]  S. Dimauro,et al.  Mitochondrial diseases. , 1989, Neurologic clinics.