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Volumn 13, Issue 4, 2013, Pages 337-341

Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes

(26)  Montero, Raquel a,b   Grazina, Manuela c,d   López Gallardo, Ester b,e   Montoya, Julio b,e   Briones, Paz b,f,g   Navarro Sastre, Aleix b,f   Land, John M h   Hargreaves, Iain P h   Artuch, Rafael a,b   del Mar O'Callaghan, Maria a   Jou, Cristina a   Jimenez, Cecilia a   Buján, Nuria f   Pineda, Mercè a,b   García Cazorla, Angels a,b   Nascimento, Andrés a   Perez Dueñas, Belen a   Ruiz Pesini, Eduardo e   Fratter, Carl i   Salviati, Leonardo j   more..

g CSIC   (Spain)

Author keywords

Coenzyme Q10 deficiency; Mitochondrial disorders; Mitochondrial DNA depletion syndrome

Indexed keywords

MITOCHONDRIAL DNA; UBIDECARENONE; DRUG DERIVATIVE; UBIQUINONE;

EID: 84877800522     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2013.04.001     Document Type: Article
Times cited : (50)

References (36)
  • 2
    • 48249120297 scopus 로고    scopus 로고
    • Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations
    • Ashley N., O'Rourke A., Smith C., Adams S., Gowda V., Zeviani M., Brown G.K., Fratter C., Poulton J. Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. Hum. Mol. Genet. 2008, 17:2496-2506.
    • (2008) Hum. Mol. Genet. , vol.17 , pp. 2496-2506
    • Ashley, N.1    O'Rourke, A.2    Smith, C.3    Adams, S.4    Gowda, V.5    Zeviani, M.6    Brown, G.K.7    Fratter, C.8    Poulton, J.9
  • 4
    • 33847404036 scopus 로고    scopus 로고
    • Mutations in coenzyme Q10 biosynthetic genes
    • DiMauro S., Quinzii C., Hirano M. Mutations in coenzyme Q10 biosynthetic genes. J. Clin. Invest. 2007, 117:587-589.
    • (2007) J. Clin. Invest. , vol.117 , pp. 587-589
    • DiMauro, S.1    Quinzii, C.2    Hirano, M.3
  • 5
    • 77954371509 scopus 로고    scopus 로고
    • Quantitative evaluation of the mitochondrial DNA depletion syndrome
    • Dimmock D., Tang L.Y., Schmitt E.S., Wong L.J.C. Quantitative evaluation of the mitochondrial DNA depletion syndrome. Clin. Chem. 2010, 56:1119-1127.
    • (2010) Clin. Chem. , vol.56 , pp. 1119-1127
    • Dimmock, D.1    Tang, L.Y.2    Schmitt, E.S.3    Wong, L.J.C.4
  • 8
    • 0029042393 scopus 로고
    • Biochemical, physiological and medical aspects of ubiquinone function
    • Ernster L., Dallner G. Biochemical, physiological and medical aspects of ubiquinone function. Biochim. Biophys. Acta 1995, 1271:195-204.
    • (1995) Biochim. Biophys. Acta , vol.1271 , pp. 195-204
    • Ernster, L.1    Dallner, G.2
  • 10
    • 84856321622 scopus 로고    scopus 로고
    • Mitochondrial respiratory chain: biochemical analysis and criterion for deficiency in diagnosis
    • Grazina M. Mitochondrial respiratory chain: biochemical analysis and criterion for deficiency in diagnosis. Methods Mol. Biol. 2012, 837:73-91.
    • (2012) Methods Mol. Biol. , vol.837 , pp. 73-91
    • Grazina, M.1
  • 16
    • 40349092904 scopus 로고    scopus 로고
    • Systematic evaluation of muscle coenzyme Q10 content in children with mitochondrial respiratory chain enzyme deficiencies
    • Miles M.V., Miles L., Tang P.H., Horn P.S., Steele P.E., DeGrauw A.J., Wong B.L., Bove K.E. Systematic evaluation of muscle coenzyme Q10 content in children with mitochondrial respiratory chain enzyme deficiencies. Mitochondrion 2008, 8:170-180.
    • (2008) Mitochondrion , vol.8 , pp. 170-180
    • Miles, M.V.1    Miles, L.2    Tang, P.H.3    Horn, P.S.4    Steele, P.E.5    DeGrauw, A.J.6    Wong, B.L.7    Bove, K.E.8
  • 21
    • 79959703224 scopus 로고    scopus 로고
    • Infantile-onset disorders of mitochondrial replication and protein synthesis
    • Nogueira C., Carrozzo R., Vilarinho L., Santorelli F.M. Infantile-onset disorders of mitochondrial replication and protein synthesis. J. Child Neurol. 2011, 26:866-875.
    • (2011) J. Child Neurol. , vol.26 , pp. 866-875
    • Nogueira, C.1    Carrozzo, R.2    Vilarinho, L.3    Santorelli, F.M.4
  • 23
    • 0141610413 scopus 로고
    • Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy
    • Ogasahara S., Engel A.G., Frens D., Mack D. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc. Natl. Acad. Sci. U.S.A. 1989, 86:2379-2382.
    • (1989) Proc. Natl. Acad. Sci. U.S.A. , vol.86 , pp. 2379-2382
    • Ogasahara, S.1    Engel, A.G.2    Frens, D.3    Mack, D.4
  • 25
    • 80054861726 scopus 로고    scopus 로고
    • Primary and secondary CoQ(10) deficiencies in humans
    • Quinzii C.M., Hirano M. Primary and secondary CoQ(10) deficiencies in humans. Biofactors 2011, 37:361-365.
    • (2011) Biofactors , vol.37 , pp. 361-365
    • Quinzii, C.M.1    Hirano, M.2
  • 27
    • 58349104352 scopus 로고    scopus 로고
    • Diagnosis of mitochondrial DNA depletion syndromes
    • Rahman S., Poulton J. Diagnosis of mitochondrial DNA depletion syndromes. Arch. Dis. Child. 2009, 94:3-5.
    • (2009) Arch. Dis. Child. , vol.94 , pp. 3-5
    • Rahman, S.1    Poulton, J.2
  • 28
    • 71849087384 scopus 로고    scopus 로고
    • Genetic causes of mitochondrial DNA depletion in humans
    • Rötig A., Poulton J. Genetic causes of mitochondrial DNA depletion in humans. Biochim. Biophys. Acta 2009, 1792:1103-1108.
    • (2009) Biochim. Biophys. Acta , vol.1792 , pp. 1103-1108
    • Rötig, A.1    Poulton, J.2
  • 32
    • 79959892261 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations and depletion in pediatric medicine
    • Spinazzola A. Mitochondrial DNA mutations and depletion in pediatric medicine. Semin. Fetal Neonatal. Med. 2011, 16:190-196.
    • (2011) Semin. Fetal Neonatal. Med. , vol.16 , pp. 190-196
    • Spinazzola, A.1
  • 33
    • 77954035632 scopus 로고    scopus 로고
    • Mitochondrial DNA depletion syndromes: many genes, common mechanisms
    • Suomalainen A., Isohanni P. Mitochondrial DNA depletion syndromes: many genes, common mechanisms. Neuromuscul. Disord. 2010, 20:429-437.
    • (2010) Neuromuscul. Disord. , vol.20 , pp. 429-437
    • Suomalainen, A.1    Isohanni, P.2
  • 36
    • 79959431558 scopus 로고    scopus 로고
    • Effect of mitochondrial dysfunction and oxidative stress on endogenous levels of coenzyme Q(10) in human cells
    • Yen H.C., Chen F.Y., Chen S.W., Huang Y.H., Chen Y.R., Chen C.W. Effect of mitochondrial dysfunction and oxidative stress on endogenous levels of coenzyme Q(10) in human cells. J. Biochem. Mol. Toxicol. 2011, 25:280-289.
    • (2011) J. Biochem. Mol. Toxicol. , vol.25 , pp. 280-289
    • Yen, H.C.1    Chen, F.Y.2    Chen, S.W.3    Huang, Y.H.4    Chen, Y.R.5    Chen, C.W.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.