Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency
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S. Seneca | P. Navas | A. Ribes | R. Artuch | W. Lissens | P. Briones | C. Espinós | L. Meirleir | J. García-Villoria | R. Montero | Á. Arias | N. Bujan
[1] A. Ribes,et al. Analysis of coenzyme Q(10) in lymphocytes by HPLC-MS/MS. , 2012, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.
[2] V. Pertegato,et al. Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency , 2012, Journal of Medical Genetics.
[3] S. Rahman,et al. 176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q10 deficiency , 2012, Neuromuscular Disorders.
[4] D. Grinberg,et al. Molecular analysis of 30 Niemann–Pick type C patients from Spain , 2011, Clinical genetics.
[5] S. Dimauro,et al. Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects , 2010, PloS one.
[6] P. Navas,et al. Coenzyme Q10‐responsive ataxia: 2‐year‐treatment follow‐up , 2010, Movement disorders : official journal of the Movement Disorder Society.
[7] M. Mancuso,et al. Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy , 2010, Neuromuscular Disorders.
[8] B. Andresen,et al. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency , 2009, Neuromuscular Disorders.
[9] P. Navas,et al. Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report. , 2009, Clinical biochemistry.
[10] I. Nonaka,et al. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency , 2009, Neuromuscular Disorders.
[11] P. Navas,et al. Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes. , 2008, Clinical biochemistry.
[12] T. Chojnacki,et al. Investigation of coenzyme Q biosynthesis in human fibroblast and HepG2 cells. , 2008, Journal of biochemical and biophysical methods.
[13] E. Bertini,et al. COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. , 2007, Journal of the American Society of Nephrology : JASN.
[14] H. Cavé,et al. Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency , 2007, Journal of Inherited Metabolic Disease.
[15] S. Dimauro,et al. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. , 2007, Brain : a journal of neurology.
[16] S. Dimauro,et al. Human Coenzyme Q10 Deficiency , 2006, Neurochemical Research.
[17] V. Volpini,et al. Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation , 2006, Journal of the Neurological Sciences.
[18] S. Dimauro,et al. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. , 2006, American journal of human genetics.
[19] S. Dimauro,et al. Coenzyme Q10 deficiency and isolated myopathy , 2006, Neurology.
[20] S. Dimauro,et al. Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition , 2005, Neurology.
[21] V. Mootha,et al. Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation , 2005, Neurology.
[22] F. W. Heaton,et al. A Constituent of the Unsaponifiable Portion of Animal Tissue Lipids (X... 272 m,u.) , 2005 .
[23] G. Dallner,et al. Metabolism and function of coenzyme Q. , 2004, Biochimica et biophysica acta.
[24] C. Scriver,et al. The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.
[25] A. Munnich,et al. Mitochondrial respiratory chain dysfunction caused by coenzyme Q deficiency. , 2004, Methods in enzymology.
[26] H. Yamanouchi,et al. [Coenzyme Q10 deficiency]. , 2002, Nihon rinsho. Japanese journal of clinical medicine.
[27] G. Dallner,et al. Regulation of ubiquinone metabolism. , 2000, Free radical biology & medicine.
[28] A. Munnich,et al. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency , 2000, The Lancet.
[29] G. Dallner,et al. Reduced cholesterol accumulation and improved deficient peroxisomal functions in a murine model of Niemann-Pick type C disease upon treatment with peroxisomal proliferators. , 1998, Biochemical pharmacology.
[30] I. Nonaka,et al. Muscle coenzyme Q10 in mitochondrial encephalomyopathies , 1991, Neuromuscular Disorders.
[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.
[32] F. Frerman. Reaction of electron-transfer flavoprotein ubiquinone oxidoreductase with the mitochondrial respiratory chain. , 1987, Biochimica et biophysica acta.
[33] J. A. Acree. On mutation , 1980 .
[34] M. Danson,et al. Citrate synthase. , 2020, Current topics in cellular regulation.
[35] P. Srere,et al. [1] Citrate synthase. [EC 4.1.3.7. Citrate oxaloacetate-lyase (CoA-acetylating)] , 1969 .
[36] F. L. Crane,et al. Isolation of a quinone from beef heart mitochondria. , 1957, Biochimica et biophysica acta.
[37] R. A. Morton,et al. A constituent of the unsaponifiable portion of animal tissue lipids (lambda max. 272 m mu). , 1955, The Biochemical journal.