A fatal case of COQ 7-associated primary coenzyme Q 10 deficiency

[1]  Paul D Hutchins,et al.  An Isoprene Lipid-Binding Protein Promotes Eukaryotic Coenzyme Q Biosynthesis. , 2019, Molecular cell.

[2]  Marina T. DiStefano,et al.  Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion , 2018, Human mutation.

[3]  R. Rodenburg,et al.  A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9 , 2018, Journal of inherited metabolic disease.

[4]  R. Nussbaum,et al.  Modeling the ACMG/AMP Variant Classification Guidelines as a Bayesian Classification Framework , 2018, Genetics in Medicine.

[5]  D. Pagliarini,et al.  Biochemistry of Mitochondrial Coenzyme Q Biosynthesis. , 2017, Trends in biochemical sciences.

[6]  Aneal Khan,et al.  Pathogenicity of two COQ7 mutations and responses to 2,4‐dihydroxybenzoate bypass treatment , 2017, Journal of cellular and molecular medicine.

[7]  Yang Zhang,et al.  STRUM: structure-based prediction of protein stability changes upon single-point mutation , 2016, Bioinform..

[8]  S. Rea,et al.  CLD1 Reverses the Ubiquinone Insufficiency of Mutant cat5/coq7 in a Saccharomyces cerevisiae Model System , 2016, PloS one.

[9]  E. Trevisson,et al.  Coenzyme Q biosynthesis in health and disease. , 2016, Biochimica et biophysica acta.

[10]  T. Meitinger,et al.  Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9 , 2015, European Journal of Human Genetics.

[11]  Seung-Jae V. Lee,et al.  Faculty Opinions recommendation of A nuclear role for the respiratory enzyme CLK-1 in regulating mitochondrial stress responses and longevity. , 2015 .

[12]  A. Mourier,et al.  Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid , 2015, Journal of Medical Genetics.

[13]  S. Hekimi,et al.  Mitochondrial function and lifespan of mice with controlled ubiquinone biosynthesis , 2015, Nature Communications.

[14]  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.

[15]  Richard J. Rodenburg,et al.  Whole exome sequencing of suspected mitochondrial patients in clinical practice , 2015, Journal of Inherited Metabolic Disease.

[16]  J. Smeitink,et al.  Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease , 2015, Journal of Inherited Metabolic Disease.

[17]  Julie C. Mitchell,et al.  Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis , 2014, Proceedings of the National Academy of Sciences.

[18]  Christian Gilissen,et al.  A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases , 2013, Human mutation.

[19]  A. van Hoof,et al.  Degradation of mRNAs that lack a stop codon: a decade of nonstop progress , 2012, Wiley interdisciplinary reviews. RNA.

[20]  S. Rahman,et al.  176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q10 deficiency , 2012, Neuromuscular Disorders.

[21]  A. Singleton,et al.  A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. , 2009, American journal of human genetics.

[22]  L. Salviati,et al.  Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. , 2008, The New England journal of medicine.

[23]  P. Navas,et al.  Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes. , 2008, Clinical biochemistry.

[24]  N. Drouot,et al.  ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. , 2008, American journal of human genetics.

[25]  A. Munnich,et al.  Infantile and pediatric quinone deficiency diseases. , 2007, Mitochondrion.

[26]  S. Dimauro,et al.  Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. , 2006, American journal of human genetics.

[27]  S. Dimauro,et al.  Human Coenzyme Q10 Deficiency , 2006, Neurochemical Research.

[28]  P. Stenmark,et al.  A New Member of the Family of Di-iron Carboxylate Proteins , 2001, The Journal of Biological Chemistry.

[29]  H. Iwamura,et al.  Role of the isoprenyl tail of ubiquinone in reaction with respiratory enzymes: studies with bovine heart mitochondrial complex I and Escherichia coli bo-type ubiquinol oxidase. , 1998, Biochemistry.

[30]  G. Dallner,et al.  Biochemical, physiological and medical aspects of ubiquinone function. , 1995, Biochimica et biophysica acta.

[31]  D. Frens,et al.  Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. , 1989, Proceedings of the National Academy of Sciences of the United States of America.