Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency

(2015) Manuel Schiff et al.   HUMAN MOLECULAR GENETICS

Spectrum of combined respiratory chain defects

(2015) Johannes A. Mayr et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Architecture of mammalian respiratory complex I

(2014) Kutti R. Vinothkumar et al.   NATURE

Mitochondrial Complex I

(2013) Judy Hirst   Annual Review of Biochemistry

Investigating the function of [2Fe–2S] cluster N1a, the off-pathway cluster in complex I, by manipulating its reduction potential

(2013) James A. Birrell et al.   BIOCHEMICAL JOURNAL

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

(2013) A. Reghan Foley et al.   BRAIN

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

(2013) Darrell L. Dinwiddie et al.   GENOMICS

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Crystal structure of the entire respiratory complex I

(2013) Rozbeh Baradaran et al.   NATURE

New treatments for mitochondrial disease—no time to drop our standards

(2013) Gerald Pfeffer et al.   Nature Reviews Neurology

Targeted exome sequencing of suspected mitochondrial disorders

(2013) D. S. Lieber et al.   NEUROLOGY

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2

(2012) Samantha E. Marin et al.   GENE

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

(2012) S. Koene et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ10)

(2012) Rita Horvath   JOURNAL OF INHERITED METABOLIC DISEASE

Complex I deficiency: clinical features, biochemistry and molecular genetics

(2012) Elisa Fassone et al.   JOURNAL OF MEDICAL GENETICS

Mouse mtDNA mutant model of Leber hereditary optic neuropathy

(2012) C. S. Lin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1

(2011) Jukka Pätsi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome

(2011) C Vilain et al.   CLINICAL GENETICS

A ternary mechanism for NADH oxidation by positively charged electron acceptors, catalyzed at the flavin site in respiratory complex I

(2011) James A. Birrell et al.   FEBS LETTERS

Superoxide Is Produced by the Reduced Flavin in Mitochondrial Complex I

(2011) Kenneth R. Pryde et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

(2010) Sarah E Calvo et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The respiratory complexes I from the mitochondria of twoPichiaspecies

(2009) Hannah R. Bridges et al.   BIOCHEMICAL JOURNAL

Towards the molecular mechanism of respiratory complex I

(2009) Judy Hirst   BIOCHEMICAL JOURNAL

Reduction of Hydrophilic Ubiquinones by the Flavin in Mitochondrial NADH:Ubiquinone Oxidoreductase (Complex I) and Production of Reactive Oxygen Species†

(2009) Martin S. King et al.   BIOCHEMISTRY

Reactions of the Flavin Mononucleotide in Complex I: A Combined Mechanism Describes NADH Oxidation Coupled to the Reduction of APAD+, Ferricyanide, or Molecular Oxygen

(2009) James A. Birrell et al.   BIOCHEMISTRY

ThermoFAD, aThermofluor®-adapted flavinad hocdetection system for protein folding and ligand binding

(2009) Federico Forneris et al.   FEBS Journal

Structural Basis for the Mechanism of Respiratory Complex I

(2009) John M. Berrisford et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

How mitochondria produce reactive oxygen species

(2008) Michael P. Murphy   BIOCHEMICAL JOURNAL

MR Spectroscopy and Serial Magnetic Resonance Imaging in a Patient with Mitochondrial Cystic Leukoencephalopathy due to Complex I Deficiency andNDUFV1Mutations and Mild Clinical Course

(2008) D. Zafeiriou et al.   NEUROPEDIATRICS

Siblings With Leukoencephalopathy

(2008) Galen N. Breningstall et al.   Seminars in Pediatric Neurology

Leber hereditary optic neuropathy mutations in the ND6 subunit of mitochondrial complex I affect ubiquinone reduction kinetics in a bacterial model of the enzyme

(2007) Jukka Pätsi et al.   BIOCHEMICAL JOURNAL