메뉴 건너뛰기




Volumn 2, Issue 4, 2012, Pages 213-223

Mitochondrial respiratory chain defects in autism and other neurodevelopmental disorders

Author keywords

attention deficit hyperactivity disorder; Autism; Down syndrome; electron transport chain; Fragile X syndrome; mitochondria; neurodevelopment; oxidative stress; schizophrenia

Indexed keywords

CYTOCHROME C OXIDASE; LACTIC ACID; MITOCHONDRIAL DNA; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; PYRUVIC ACID; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; SUCCINATE DEHYDROGENASE; UBIQUINOL CYTOCHROME C REDUCTASE;

EID: 84877871019     PISSN: 18795390     EISSN: 18795404     Source Type: Journal    
DOI: 10.3233/JPB-120063     Document Type: Review
Times cited : (16)

References (119)
  • 2
    • 0036194529 scopus 로고    scopus 로고
    • Mitochondria as a pharmacological target
    • Szewczyk A, Wojtczak L. Mitochondria as a pharmacological target. Pharmacol Rev 2002; 54: 101-127.
    • (2002) Pharmacol Rev , vol.54 , pp. 101-127
    • Szewczyk, A.1    Wojtczak, L.2
  • 3
    • 33846968150 scopus 로고    scopus 로고
    • Supramolecular structure of the mitochondrial oxidative phosphorylation system
    • Boekema EJ, Braun HP. Supramolecular structure of the mitochondrial oxidative phosphorylation system. J Biol Chem 2007; 282: 1-4.
    • (2007) J Biol Chem , vol.282 , pp. 1-4
    • Boekema, E.J.1    Braun, H.P.2
  • 4
    • 14744270722 scopus 로고    scopus 로고
    • Structure of a mitochondrial supercomplex formed by respiratory-chain complexes i and III
    • Dudkina NV, Eubel H, Keegstra W, Boekema EJ, Braun HP. Structure of a mitochondrial supercomplex formed by respiratory-chain complexes I and III. Proc Natl Acad Sci U S A 2005; 102: 3225-3229.
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 3225-3229
    • Dudkina, N.V.1    Eubel, H.2    Keegstra, W.3    Boekema, E.J.4    Braun, H.P.5
  • 5
    • 0345863901 scopus 로고    scopus 로고
    • MitoProteome: Mitochondrial protein sequence database and annotation system
    • Cotter D, Guda P, Fahy E, Subramaniam S. MitoProteome: mitochondrial protein sequence database and annotation system. Nucleic Acids Res 2004; 32: D463-D467.
    • (2004) Nucleic Acids Res , vol.32
    • Cotter, D.1    Guda, P.2    Fahy, E.3    Subramaniam, S.4
  • 6
    • 44849128599 scopus 로고    scopus 로고
    • Expression and maintenance of mitochondrial DNA: New insights into human disease pathology
    • Shadel GS. Expression and maintenance of mitochondrial DNA: new insights into human disease pathology. Am J Pathol 2008; 172: 1445-1456.
    • (2008) Am J Pathol , vol.172 , pp. 1445-1456
    • Shadel, G.S.1
  • 7
    • 68049094030 scopus 로고    scopus 로고
    • Multi-faceted regulation of mitochondria by TOR
    • Shadel GS, Pan Y. Multi-faceted regulation of mitochondria by TOR. Cell Cycle 2009; 8: 2143.
    • (2009) Cell Cycle , vol.8 , pp. 2143
    • Shadel, G.S.1    Pan, Y.2
  • 8
    • 0036043866 scopus 로고    scopus 로고
    • Energetics and oxidative stress in synaptic plasticity and neurodegenerative disorders
    • Mattson MP, Liu D. Energetics and oxidative stress in synaptic plasticity and neurodegenerative disorders. Neuromolecular Med 2002; 2: 215-231.
    • (2002) Neuromolecular Med , vol.2 , pp. 215-231
    • Mattson, M.P.1    Liu, D.2
  • 9
    • 4544298249 scopus 로고    scopus 로고
    • Mitochondrial mechanisms of neural cell apoptosis
    • Polster BM, Fiskum G. Mitochondrial mechanisms of neural cell apoptosis. J Neurochem 2004; 90: 1281-1289.
    • (2004) J Neurochem , vol.90 , pp. 1281-1289
    • Polster, B.M.1    Fiskum, G.2
  • 10
    • 0033796250 scopus 로고    scopus 로고
    • Mitochondrial free radical generation, oxidative stress, and aging
    • Cadenas E,Davies KJ. Mitochondrial free radical generation, oxidative stress, and aging. Free Radic Biol Med 2000; 29: 222-230.
    • (2000) Free Radic Biol Med , vol.29 , pp. 222-230
    • Cadenas Edavies, K.J.1
  • 11
    • 0036139856 scopus 로고    scopus 로고
    • The mitochondrial production of reactive oxygen species: Mechanisms and implications in human pathology
    • Lenaz G. The mitochondrial production of reactive oxygen species: mechanisms and implications in human pathology. IUBMB Life 2001; 52: 159-164.
    • (2001) IUBMB Life , vol.52 , pp. 159-164
    • Lenaz, G.1
  • 12
    • 33144490305 scopus 로고    scopus 로고
    • Nuclear and mitochondrial compartmentation of oxidative stress and redox signaling
    • Hansen JM, Go YM, Jones DP. Nuclear and mitochondrial compartmentation of oxidative stress and redox signaling. Annu Rev Pharmacol Toxicol 2006; 46: 215-234.
    • (2006) Annu Rev Pharmacol Toxicol , vol.46 , pp. 215-234
    • Hansen, J.M.1    Go, Y.M.2    Jones, D.P.3
  • 13
    • 33749993246 scopus 로고    scopus 로고
    • Disruption of mitochondrial redox circuitry in oxidative stress
    • Jones DP. Disruption of mitochondrial redox circuitry in oxidative stress. Chem Biol Interact 2006; 163: 38-53.
    • (2006) Chem Biol Interact , vol.163 , pp. 38-53
    • Jones, D.P.1
  • 14
    • 0034866372 scopus 로고    scopus 로고
    • Redox regulation of the DNA repair function of thehumanAPendonucleaseApe1/ref-1
    • Kelley MR, Parsons SH. Redox regulation of the DNA repair function of thehumanAPendonucleaseApe1/ref-1.Antioxid Redox Signal 2001; 3: 671-683.
    • (2001) Antioxid Redox Signal , vol.3 , pp. 671-683
    • Kelley, M.R.1    Parsons, S.H.2
  • 15
    • 0034213186 scopus 로고    scopus 로고
    • The evolution of free radicals and oxidative stress
    • McCord JM. The evolution of free radicals and oxidative stress. Am J Med 2000; 108: 652-659.
    • (2000) Am J Med , vol.108 , pp. 652-659
    • McCord, J.M.1
  • 16
    • 10344221083 scopus 로고    scopus 로고
    • Complex III releases superoxide to both sides of the inner mitochondrial membrane
    • Muller FL, Liu Y, Van Remmen H. Complex III releases superoxide to both sides of the inner mitochondrial membrane. J Biol Chem 2004; 279: 49064-49073.
    • (2004) J Biol Chem , vol.279 , pp. 49064-49073
    • Muller, F.L.1    Liu, Y.2    Van Remmen, H.3
  • 17
    • 0033369476 scopus 로고    scopus 로고
    • Mitochondrial oxygen radical generation and leak: Sites of production in states 4 and 3, organ specificity, and relation to aging and longevity
    • Barja G. Mitochondrial oxygen radical generation and leak: sites of production in states 4 and 3, organ specificity, and relation to aging and longevity. J Bioenerg Biomembr 1999; 31: 347-366.
    • (1999) J Bioenerg Biomembr , vol.31 , pp. 347-366
    • Barja, G.1
  • 18
    • 0024281056 scopus 로고
    • Mechanism of O2- generation in reduction and oxidation cycle of ubiquinones in a model of mitochondrial electron transport systems
    • Sugioka K, Nakano M, Totsune-Nakano H, Minakami H, Tero-Kubota S, Ikegami Y. Mechanism of O2- generation in reduction and oxidation cycle of ubiquinones in a model of mitochondrial electron transport systems. Biochim Biophys Acta 1988; 936: 377-385.
    • (1988) Biochim Biophys Acta , vol.936 , pp. 377-385
    • Sugioka, K.1    Nakano, M.2    Totsune-Nakano, H.3    Minakami, H.4    Tero-Kubota, S.5    Ikegami, Y.6
  • 20
    • 84859394070 scopus 로고    scopus 로고
    • Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008
    • Wingate,M,Mulvihill B, KirbyRS et al. Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008. MMWR Surveill Summ 2012; 61: 1-19.
    • (2012) MMWR Surveill Summ , vol.61 , pp. 1-19
    • Kirbyrs, W.B.1
  • 21
    • 79958258583 scopus 로고    scopus 로고
    • Prevalence of autism spectrum disorders in a total population sample
    • Kim YS, Leventhal BL, Koh YJ et al. Prevalence of autism spectrum disorders in a total population sample. Am J Psychiatry 2011; 168: 904-912.
    • (2011) Am J Psychiatry , vol.168 , pp. 904-912
    • Kim, Y.S.1    Leventhal, B.L.2    Koh, Y.J.3
  • 22
    • 79953723451 scopus 로고    scopus 로고
    • Brain region-specific deficit in mitochondrial electron transport chain complexes in children with autism
    • ChauhanA,Gu F, EssaMMet al. Brain region-specific deficit in mitochondrial electron transport chain complexes in children with autism. J Neurochem 2011; 117: 209-220.
    • (2011) J Neurochem , vol.117 , pp. 209-220
    • Chauhan, A.1    Gu, F.2    Essa, M.M.3
  • 24
    • 0027337120 scopus 로고
    • A preliminary 31P MRS study of autism: Evidence for undersynthesis and increased degradation of brain membranes
    • Minshew NJ, Goldstein G, Dombrowski SM, Panchalingam K, Pettegrew JW. A preliminary 31P MRS study of autism: evidence for undersynthesis and increased degradation of brain membranes. Biol Psychiatry 1993; 33: 762-773.
    • (1993) Biol Psychiatry , vol.33 , pp. 762-773
    • Minshew, N.J.1    Goldstein, G.2    Dombrowski, S.M.3    Panchalingam, K.4    Pettegrew, J.W.5
  • 25
    • 0031748285 scopus 로고    scopus 로고
    • Autism: A mitochondrial disorder?
    • Lombard J. Autism: A mitochondrial disorder? Med Hypotheses 1998; 50: 497-500.
    • (1998) Med Hypotheses , vol.50 , pp. 497-500
    • Lombard, J.1
  • 26
    • 78650463098 scopus 로고    scopus 로고
    • Autism associated to a deficiency of complexes III and IV of the mitochondrial respiratory chain
    • Guevara-Campos J, Gonzalez-Guevara L, Briones P et al. Autism associated to a deficiency of complexes III and IV of the mitochondrial respiratory chain. Invest Clin 2010; 51: 423-431.
    • (2010) Invest Clin , vol.51 , pp. 423-431
    • Guevara-Campos, J.1    Gonzalez-Guevara, L.2    Briones, P.3
  • 27
    • 0036592842 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome
    • Filiano JJ, Goldenthal MJ, Rhodes CH, Marin-Garcia J. Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome. J Child Neurol 2002; 17: 435-439.
    • (2002) J Child Neurol , vol.17 , pp. 435-439
    • Filiano, J.J.1    Goldenthal, M.J.2    Rhodes, C.H.3    Marin-Garcia, J.4
  • 28
    • 56849108261 scopus 로고    scopus 로고
    • Mitochondrial disease in autism spectrum disorder patients: A cohort analysis
    • Weissman JR, Kelley RI, Bauman ML et al. Mitochondrial disease in autism spectrum disorder patients: A cohort analysis. PLoS One 2008; 3: e3815.
    • (2008) PLoS One , vol.3
    • Weissman, J.R.1    Kelley, R.I.2    Bauman, M.L.3
  • 29
    • 14044258489 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in autism spectrum disorders: A population-based study
    • Oliveira G, Diogo L, Grazina M et al. Mitochondrial dysfunction in autism spectrum disorders: A population-based study. Dev Med Child Neurol 2005; 47: 185-189.
    • (2005) Dev Med Child Neurol , vol.47 , pp. 185-189
    • Oliveira, G.1    Diogo, L.2    Grazina, M.3
  • 30
    • 33845912666 scopus 로고    scopus 로고
    • Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: No association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene
    • Correia C, Coutinho AM, Diogo L et al. Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: No association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene. J Autism Dev Disord 2006; 36: 1137-1140.
    • (2006) J Autism Dev Disord , vol.36 , pp. 1137-1140
    • Correia, C.1    Coutinho, A.M.2    Diogo, L.3
  • 32
    • 84857369274 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in autism spectrum disorders: A systematic review and meta-analysis
    • RossignolDA, FryeRE. Mitochondrial dysfunction in autism spectrum disorders: A systematic review and meta-analysis. Mol Psychiatry 2012; 17: 290-314.
    • (2012) Mol Psychiatry , vol.17 , pp. 290-314
    • Rossignol, D.A.1    Frye, R.E.2
  • 33
    • 77953809304 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in autism spectrum disorders: Cause or effect?
    • Palmieri L, PersicoAM. Mitochondrial dysfunction in autism spectrum disorders: cause or effect? Biochim Biophys Acta 2010; 1797: 1130-1137.
    • (2010) Biochim Biophys Acta , vol.1797 , pp. 1130-1137
    • Palmieri, L.1    Persico, A.M.2
  • 34
    • 42449106018 scopus 로고    scopus 로고
    • Evidence of mitochondrial dysfunction in autism and implications for treatment
    • Rossignol DA, Bradstreet JJ. Evidence of mitochondrial dysfunction in autism and implications for treatment. Am J Biochem Biotech 2008; 4: 208-217.
    • (2008) Am J Biochem Biotech , vol.4 , pp. 208-217
    • Rossignol, D.A.1    Bradstreet, J.J.2
  • 35
    • 42449098371 scopus 로고    scopus 로고
    • Mitochondrial energy-deficient endophenotype in autism
    • Gargus JJ, Imtiaz F.Mitochondrial energy-deficient endophenotype in autism. Am J Biochem Biotech 2008; 4: 198-207.
    • (2008) Am J Biochem Biotech , vol.4 , pp. 198-207
    • Gargus, J.J.1    Imtiaz, F.2
  • 36
    • 77956249894 scopus 로고    scopus 로고
    • Autism and mitochondrial disease
    • Haas RH. Autism and mitochondrial disease. Dev Disabil Res Rev 2010; 16: 144-153.
    • (2010) Dev Disabil Res Rev , vol.16 , pp. 144-153
    • Haas, R.H.1
  • 37
    • 34548673780 scopus 로고    scopus 로고
    • Autistic disorder in 2 children with mitochondrial disorders
    • Tsao CY, Mendell Jr. Autistic disorder in 2 children with mitochondrial disorders. J Child Neurol 2007; 22: 1121- 1123.
    • (2007) J Child Neurol , vol.22 , pp. 1121-1123
    • Tsao, C.Y.1    Mendell, J.R.2
  • 38
    • 29444444290 scopus 로고    scopus 로고
    • Parental report of the early development of children with regressive autism: The delaysplus- regression phenotype
    • Ozonoff S,Williams BJ, Landa R. Parental report of the early development of children with regressive autism: The delaysplus- regression phenotype. Autism 2005; 9: 461-486.
    • (2005) Autism , vol.9 , pp. 461-486
    • Ozonoff, S.1    Williams, B.J.2    Landa, R.3
  • 39
    • 0346157113 scopus 로고    scopus 로고
    • Language and other regression: Assessment and timing
    • GoldbergWA,Osann K, Filipek PAet al. Language and other regression: Assessment and timing. J Autism Dev Disord 2003; 33: 607-616.
    • (2003) J Autism Dev Disord , vol.33 , pp. 607-616
    • Goldberg, W.A.1    Osann, K.2    Filipek, P.A.3
  • 40
    • 38049112326 scopus 로고    scopus 로고
    • Regression in autism: Prevalence and associated factors in the CHARGE Study
    • Hansen RL, Ozonoff S, Krakowiak P et al. Regression in autism: prevalence and associated factors in the CHARGE Study. Ambul Pediatr 2008; 8: 25-31.
    • (2008) Ambul Pediatr , vol.8 , pp. 25-31
    • Hansen, R.L.1    Ozonoff, S.2    Krakowiak, P.3
  • 41
    • 56549099567 scopus 로고    scopus 로고
    • Regression in autistic spectrum disorders
    • Stefanatos GA. Regression in autistic spectrum disorders. Neuropsychol Rev 2008; 18: 305-319.
    • (2008) Neuropsychol Rev , vol.18 , pp. 305-319
    • Stefanatos, G.A.1
  • 42
    • 33646830596 scopus 로고    scopus 로고
    • Developmental regression and mitochondrial dysfunction in a child with autism
    • Poling JS, Frye RE, Shoffner J, Zimmerman AW. Developmental regression and mitochondrial dysfunction in a child with autism. J Child Neurol 2006; 21: 170-172.
    • (2006) J Child Neurol , vol.21 , pp. 170-172
    • Poling, J.S.1    Frye, R.E.2    Shoffner, J.3    Zimmerman, A.W.4
  • 43
    • 77950920383 scopus 로고    scopus 로고
    • Fever plus mitochondrial disease could be risk factors for autistic regression
    • Shoffner J, Hyams L, Langley GN et al. Fever plus mitochondrial disease could be risk factors for autistic regression. J Child Neurol 2010; 25: 429-434.
    • J Child Neurol , vol.2010 , Issue.25 , pp. 429-434
    • Shoffner, J.1    Hyams, L.2    Langley, G.N.3
  • 44
  • 45
    • 68849131751 scopus 로고    scopus 로고
    • Cellular andmitochondrial glutathione redox imbalance in lymphoblastoid cells derived from children with autism
    • James SJ, Rose S, Melnyk S, et al. Cellular andmitochondrial glutathione redox imbalance in lymphoblastoid cells derived from children with autism. FASEB J. 2009; 23: 2374-2383.
    • (2009) FASEB J. , vol.23 , pp. 2374-2383
    • James, S.J.1    Rose, S.2    Melnyk, S.3
  • 46
    • 44849131678 scopus 로고    scopus 로고
    • Autistic spectrum disorders and mitochondrial encephalopathies
    • Holtzman D. Autistic spectrum disorders and mitochondrial encephalopathies. Acta Paediatr 2008; 97: 859-860.
    • (2008) Acta Paediatr , vol.97 , pp. 859-860
    • Holtzman, D.1
  • 47
    • 78649758904 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in autism
    • GiuliviC, ZhangYF,Omanska-KlusekAet al.Mitochondrial dysfunction in autism. JAMA 2010; 304: 2389-2396.
    • JAMA , vol.2010 , Issue.304 , pp. 2389-2396
    • Giulivi, C.1    Zhang, Y.F.2    Omanska-Klusek, A.3
  • 48
    • 33745699617 scopus 로고    scopus 로고
    • Oxidative stress in autism
    • Chauhan A, Chauhan V. Oxidative stress in autism. Pathophysiology 2006; 13: 171-181.
    • (2006) Pathophysiology , vol.13 , pp. 171-181
    • Chauhan, A.1    Chauhan, V.2
  • 49
  • 50
    • 84864666011 scopus 로고    scopus 로고
    • Brain oxidative stress andmitochondrial abnormalities in autism: In: Consensus paper: Pathological role of the cerebellum in autism (Fatemi SH et al.)
    • Chauhan A, Chauhan V. Brain oxidative stress andmitochondrial abnormalities in autism: In: Consensus paper: pathological role of the cerebellum in autism (Fatemi SH et al.). Cerebellum 2012; 11: 777-807.
    • (2012) Cerebellum , vol.11 , pp. 777-807
    • Chauhan, A.1    Chauhan, V.2
  • 51
    • 4444347472 scopus 로고    scopus 로고
    • Oxidative stress in autism: Increased lipid peroxidation and reduced serum levels of ceruloplasmin and transferrin - The antioxidant proteins
    • ChauhanA,ChauhanV,BrownWT,Cohen I.Oxidative stress in autism: Increased lipid peroxidation and reduced serum levels of ceruloplasmin and transferrin - the antioxidant proteins. Life Sci 2004; 75: 2539-2549.
    • (2004) Life Sci , vol.75 , pp. 2539-2549
    • Chauhan, A.1    Chauhan, V.2    Brown, W.T.3    Cohen, I.4
  • 52
    • 15244348759 scopus 로고    scopus 로고
    • Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism
    • James SJ, Cutler P, Melnyk S et al. Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism. Am J Clin Nutr 2004; 80: 1611- 1617.
    • (2004) Am J Clin Nutr , vol.80 , pp. 1611-1617
    • James, S.J.1    Cutler, P.2    Melnyk, S.3
  • 53
    • 4243077662 scopus 로고    scopus 로고
    • Increased oxidative stress and altered activities of erythrocyte free radical scavenging enzymes in autism
    • Zoroglu SS, Armutcu F, Ozen S et al. Increased oxidative stress and altered activities of erythrocyte free radical scavenging enzymes in autism. Eur Arch Psychiatry Clin Neurosci 2004; 254: 143-147.
    • (2004) Eur Arch Psychiatry Clin Neurosci , vol.254 , pp. 143-147
    • Zoroglu, S.S.1    Armutcu, F.2    Ozen, S.3
  • 54
    • 12444304256 scopus 로고    scopus 로고
    • Changes in nitric oxide levels and antioxidant enzyme activities may have a role in the pathophysiological mechanisms involved in autism
    • Sogut S, Zoroglu SS, Ozyurt H et al. Changes in nitric oxide levels and antioxidant enzyme activities may have a role in the pathophysiological mechanisms involved in autism. Clin Chim Acta 2003; 331: 111-117.
    • (2003) Clin Chim Acta , vol.331 , pp. 111-117
    • Sogut, S.1    Zoroglu, S.S.2    Ozyurt, H.3
  • 56
    • 42449143778 scopus 로고    scopus 로고
    • A microscopic study of language-related cortex in autism
    • Lopez-Hurtado E, Prieto JJ. A microscopic study of language-related cortex in autism. Am J Biochem Biotech 2008; 4: 130-145.
    • (2008) Am J Biochem Biotech , vol.4 , pp. 130-145
    • Lopez-Hurtado, E.1    Prieto, J.J.2
  • 57
    • 85021667980 scopus 로고    scopus 로고
    • Evidence for oxidative damage in the autistic brain
    • Chauhan A., Chauhan V. and Brown W.T. (eds) Taylor and Francis groups, Florida
    • Evans TA, Perry G, Smith MA et al. Evidence for oxidative damage in the autistic brain. In: Chauhan A., Chauhan V. and Brown W.T. (eds), Autism: Oxidative stress, inflammation and immune abnormalities, CRC Press, Taylor and Francis groups, Florida, 2009, pp. 35-46.
    • (2009) Autism: Oxidative Stress, Inflammation and Immune Abnormalities, CRC Press , pp. 35-46
    • Evans, T.A.1    Perry, G.2    Smith, M.A.3
  • 58
    • 79953718409 scopus 로고    scopus 로고
    • Increased lipid peroxidation in cerebellum and temporal cortex of brain in autism
    • Muthaiyah B, Essa MM, Chauhan V, Brown WT, Wegiel J, Chauhan A. Increased lipid peroxidation in cerebellum and temporal cortex of brain in autism. J Neurochem 2009; 108 (Suppl. 1): 73.
    • (2009) J Neurochem , vol.108 , Issue.SUPPL. 1 , pp. 73
    • Muthaiyah, B.1    Essa, M.M.2    Chauhan, V.3    Brown, W.T.4    Wegiel, J.5    Chauhan, A.6
  • 59
    • 69549111063 scopus 로고    scopus 로고
    • Increase in cerebellar neurotrophin-3 and oxidative stress markers in autism
    • Sajdel-Sulkowska EM, Xu M, Koibuchi N. Increase in cerebellar neurotrophin-3 and oxidative stress markers in autism. Cerebellum 2009; 8: 366-372.
    • (2009) Cerebellum , vol.8 , pp. 366-372
    • Sajdel-Sulkowska, E.M.1    Xu, M.2    Koibuchi, N.3
  • 60
    • 18344413881 scopus 로고    scopus 로고
    • Autism and maternally derived aberrations of chromosome 15q
    • Schroer RJ, Phelan MC, Michaelis RC et al. Autism and maternally derived aberrations of chromosome 15q. Am J Med Genet 1998; 76: 327-336.
    • (1998) Am J Med Genet , vol.76 , pp. 327-336
    • Schroer, R.J.1    Phelan, M.C.2    Michaelis, R.C.3
  • 61
    • 0032454027 scopus 로고    scopus 로고
    • Chromosomal disorders and autism
    • Gillberg C. Chromosomal disorders and autism. J Autism Dev Disord 1998; 28: 415-425.
    • (1998) J Autism Dev Disord , vol.28 , pp. 415-425
    • Gillberg, C.1
  • 63
    • 0037766224 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in autistic patients with 15q inverted duplication
    • Filipek PA, Juranek J, Smith Met al. Mitochondrial dysfunction in autistic patients with 15q inverted duplication. Ann Neurol 2003; 53: 801-804.
    • (2003) Ann Neurol , vol.53 , pp. 801-804
    • Filipek, P.A.1    Juranek, J.2    Smith, M.3
  • 65
    • 9144239818 scopus 로고    scopus 로고
    • Mitochondrial DNA abnormalities and autistic spectrum disorders
    • Pons R, Andreu AL, Checcarelli N et al. Mitochondrial DNA abnormalities and autistic spectrum disorders. J Pediatr 2004; 144: 81-85.
    • (2004) J Pediatr , vol.144 , pp. 81-85
    • Pons, R.1    Andreu, A.L.2    Checcarelli, N.3
  • 66
    • 0034048044 scopus 로고    scopus 로고
    • Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation
    • Graf WD, Marin-Garcia J, Gao HG et al. Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation. J Child Neurol 2000; 15: 357-361.
    • (2000) J Child Neurol , vol.15 , pp. 357-361
    • Graf, W.D.1    Marin-Garcia, J.2    Gao, H.G.3
  • 67
    • 78650794351 scopus 로고    scopus 로고
    • The NADHubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism
    • Marui T, Funatogawa I, Koishi S et al. The NADHubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism. Acta Psychiatr Scand 2011; 123: 118-124.
    • (2011) Acta Psychiatr Scand , vol.123 , pp. 118-124
    • Marui, T.1    Funatogawa, I.2    Koishi, S.3
  • 68
    • 77953649826 scopus 로고    scopus 로고
    • Expression analyses of the mitochondrial complex i 75-kDa subunit in early onset schizophrenia and autism spectrum disorder: Increased levels as a potential biomarker for early onset schizophrenia
    • Taurines R, Thome J, Duvigneau JC et al. Expression analyses of the mitochondrial complex I 75-kDa subunit in early onset schizophrenia and autism spectrum disorder: increased levels as a potential biomarker for early onset schizophrenia. Eur Child Adolesc Psychiatry 2010; 19: 441-448.
    • (2010) Eur Child Adolesc Psychiatry , vol.19 , pp. 441-448
    • Taurines, R.1    Thome, J.2    Duvigneau, J.C.3
  • 69
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    • AmirRE,VandV, I,Wan M, Tran CQ, Francke U, ZoghbiHY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999; 23: 185-188.
    • (1999) Nat Genet , vol.23 , pp. 185-188
    • Amir, R.E.1    Vand, V.2    Iwan, M.3    Tran, C.Q.4    Francke, U.5    Zoghbi, H.Y.6
  • 70
    • 0025865424 scopus 로고
    • Rett syndrome and mitochondrial enzyme deficiencies
    • Coker SB, Melnyk AR. Rett syndrome and mitochondrial enzyme deficiencies. J Child Neurol 1991; 6: 164-166.
    • (1991) J Child Neurol , vol.6 , pp. 164-166
    • Coker, S.B.1    Melnyk, A.R.2
  • 71
    • 0037101849 scopus 로고    scopus 로고
    • Infantile hypotonia as a presentation of Rett syndrome
    • Heilstedt HA, Shahbazian MD, Lee B. Infantile hypotonia as a presentation of Rett syndrome. Am J Med Genet 2002; 111: 238-242.
    • (2002) Am J Med Genet , vol.111 , pp. 238-242
    • Heilstedt, H.A.1    Shahbazian, M.D.2    Lee, B.3
  • 76
    • 78650211337 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome
    • Su H, Fan W, Coskun PE et al. Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome. Neurosci Lett 2011; 487: 129-133.
    • Neurosci Lett , vol.2011 , Issue.487 , pp. 129-133
    • Su, H.1    Fan, W.2    Coskun, P.E.3
  • 77
    • 33745479882 scopus 로고    scopus 로고
    • Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome
    • Kriaucionis S, Paterson A, Curtis J, Guy J, Macleod N, Bird A. Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome. Mol Cell Biol 2006; 26: 5033-5042.
    • (2006) Mol Cell Biol , vol.26 , pp. 5033-5042
    • Kriaucionis, S.1    Paterson, A.2    Curtis, J.3    Guy, J.4    MacLeod, N.5    Bird, A.6
  • 79
    • 77952501114 scopus 로고    scopus 로고
    • Biomarkerguided interventions of clinically relevant conditions associated with autism spectrum disorders and attention deficit hyperactivity disorder
    • Bradstreet JJ, Smith S, Baral M, Rossignol DA. Biomarkerguided interventions of clinically relevant conditions associated with autism spectrum disorders and attention deficit hyperactivity disorder. Altern Med Rev 2010; 15: 15-32.
    • Altern Med Rev , vol.2010 , Issue.15 , pp. 15-32
    • Bradstreet, J.J.1    Smith, S.2    Baral, M.3    Rossignol, D.A.4
  • 80
    • 0033984190 scopus 로고    scopus 로고
    • Remodeling of neural networks in the anterior forebrain of an animal model of hyperactivity and attention deficits as monitored by molecular imaging probes
    • PapaM, Sellitti S, SadileAG. Remodeling of neural networks in the anterior forebrain of an animal model of hyperactivity and attention deficits as monitored by molecular imaging probes. Neurosci Biobehav Rev 2000; 24: 149-156.
    • (2000) Neurosci Biobehav Rev , vol.24 , pp. 149-156
    • Papa, M.1    Sellitti, S.2    Sadile, A.G.3
  • 81
    • 33846468297 scopus 로고    scopus 로고
    • Chronic administration of methylphenidate activates mitochondrial respiratory chain in brain of young rats
    • Fagundes AO, Rezin GT, Zanette F et al. Chronic administration of methylphenidate activates mitochondrial respiratory chain in brain of young rats. Int J Dev Neurosci 2007; 25: 47-51.
    • (2007) Int J Dev Neurosci , vol.25 , pp. 47-51
    • Fagundes, A.O.1    Rezin, G.T.2    Zanette, F.3
  • 82
    • 76849086738 scopus 로고    scopus 로고
    • Inhibition of mitochondrial respiratory chain in the brain of adult rats after acute and chronic administration of methylphenidate
    • Fagundes AO, Scaini G, Santos PM et al. Inhibition of mitochondrial respiratory chain in the brain of adult rats after acute and chronic administration of methylphenidate. Neurochem Res 2010; 35: 405-411.
    • (2010) Neurochem Res , vol.35 , pp. 405-411
    • Fagundes, A.O.1    Scaini, G.2    Santos, P.M.3
  • 83
    • 24644523846 scopus 로고    scopus 로고
    • Mitochondrial enzymes in schizophrenia
    • Bubber P, Tang J, Haroutunian V et al. Mitochondrial enzymes in schizophrenia. J Mol Neurosci 2004; 24: 315-321.
    • (2004) J Mol Neurosci , vol.24 , pp. 315-321
    • Bubber, P.1    Tang, J.2    Haroutunian, V.3
  • 85
    • 77956236965 scopus 로고    scopus 로고
    • The role of mitochondrial dysfunction in psychiatric disease
    • Scaglia F. The role of mitochondrial dysfunction in psychiatric disease. Dev Disabil Res Rev 2010; 16: 136-143.
    • Dev Disabil Res Rev , vol.2010 , Issue.16 , pp. 136-143
    • Scaglia, F.1
  • 86
    • 0035280535 scopus 로고    scopus 로고
    • Evidence for a mitochondrial oxidative phosphorylation defect in brains from patients with schizophrenia
    • Maurer I, Zierz S, Moller H. Evidence for a mitochondrial oxidative phosphorylation defect in brains from patients with schizophrenia. Schizophr Res 2001; 48: 125-136.
    • (2001) Schizophr Res , vol.48 , pp. 125-136
    • Maurer, I.1    Zierz, S.2    Moller, H.3
  • 88
    • 0032530498 scopus 로고    scopus 로고
    • In vivo neurochemistry of the brain in schizophrenia as revealed bymagnetic resonance spectroscopy
    • Kegeles LS,Humaran TJ, Mann JJ. In vivo neurochemistry of the brain in schizophrenia as revealed bymagnetic resonance spectroscopy. Biol Psychiatry 1998; 44: 382-398.
    • (1998) Biol Psychiatry , vol.44 , pp. 382-398
    • Kegeles, L.S.1    Humaran, T.J.2    Mann, J.J.3
  • 89
    • 0034212401 scopus 로고    scopus 로고
    • Reduced phosphodiesters and high-energy phosphates in the frontal lobe of schizophrenic patients: A (31)P chemical shift spectroscopic- imaging study
    • Volz HR, Riehemann S, Maurer I et al. Reduced phosphodiesters and high-energy phosphates in the frontal lobe of schizophrenic patients: A (31)P chemical shift spectroscopic- imaging study. Biol Psychiatry 2000; 47: 954-961.
    • (2000) Biol Psychiatry , Issue.47 , pp. 954-961
    • Volz, H.R.1    Riehemann, S.2    Maurer, I.3
  • 90
    • 0036902639 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in schizophrenia: A possible linkage to dopamine
    • Ben Shachar D. Mitochondrial dysfunction in schizophrenia: A possible linkage to dopamine. J Neurochem 2002; 83: 1241-1251.
    • (2002) J Neurochem , vol.83 , pp. 1241-1251
    • Ben Shachar, D.1
  • 91
    • 0024349489 scopus 로고
    • Ultrastructure of the synapses of the anterior limbic cortex in schizophrenia
    • (in Russian)
    • Uranova NA, Aganova EA. Ultrastructure of the synapses of the anterior limbic cortex in schizophrenia. Zh Nevropatol Psikhiatr Im S S Korsakova 1989; 89: 56-59 (in Russian).
    • (1989) Zh Nevropatol Psikhiatr im S S Korsakova , vol.89 , pp. 56-59
    • Uranova, N.A.1    Aganova, E.A.2
  • 92
    • 0032953266 scopus 로고    scopus 로고
    • Mitochondrial pathology in human schizophrenic striatum: A postmortem ultrastructural study
    • Kung L, Roberts RC. Mitochondrial pathology in human schizophrenic striatum: A postmortem ultrastructural study. Synapse 1999; 31: 67-75.
    • (1999) Synapse , vol.31 , pp. 67-75
    • Kung, L.1    Roberts, R.C.2
  • 93
    • 0029101854 scopus 로고
    • Decreased cytochromec oxidase activity and lack of age-related accumulation of mitochondrial DNAdeletions in the brains of schizophrenics
    • Cavelier L, Jazin EE, Eriksson I et al. Decreased cytochromec oxidase activity and lack of age-related accumulation of mitochondrial DNAdeletions in the brains of schizophrenics. Genomics 1995; 29: 217-224.
    • (1995) Genomics , vol.29 , pp. 217-224
    • Cavelier, L.1    Jazin, E.E.2    Eriksson, I.3
  • 94
    • 77950575478 scopus 로고    scopus 로고
    • Mitochondrial complex i activity and oxidative damage to mitochondrial proteins in the prefrontal cortex of patients with bipolar disorder
    • Andreazza AC, Shao L, Wang JF, Young LT. Mitochondrial complex I activity and oxidative damage to mitochondrial proteins in the prefrontal cortex of patients with bipolar disorder. Arch Gen Psychiatry 2010; 67: 360-368.
    • (2010) Arch Gen Psychiatry , vol.67 , pp. 360-368
    • Andreazza, A.C.1    Shao, L.2    Wang, J.F.3    Young, L.T.4
  • 95
    • 0032775671 scopus 로고    scopus 로고
    • Mitochondrial function is differentially altered in the basal ganglia of chronic schizophrenics
    • Prince JA, Blennow K, Gottfries CG, Karlsson I, Oreland L. Mitochondrial function is differentially altered in the basal ganglia of chronic schizophrenics. Neuropsychopharmacology 1999; 21: 372-379.
    • (1999) Neuropsychopharmacology , vol.21 , pp. 372-379
    • Prince, J.A.1    Blennow, K.2    Gottfries, C.G.3    Karlsson, I.4    Oreland, L.5
  • 96
    • 0029848373 scopus 로고    scopus 로고
    • Mitochondrial involvement in schizophrenia and other functional psychoses
    • Whatley SA, Curti D, Marchbanks RM. Mitochondrial involvement in schizophrenia and other functional psychoses. Neurochem Res 1996; 21: 995-1004.
    • (1996) Neurochem Res , vol.21 , pp. 995-1004
    • Whatley, S.A.1    Curti, D.2    Marchbanks, R.M.3
  • 97
    • 0026447205 scopus 로고
    • Frontostriatal disorder of cerebral metabolism in never-medicated schizophrenics
    • Buchsbaum MS, Haier RJ, Potkin SG, et al. Frontostriatal disorder of cerebral metabolism in never-medicated schizophrenics. Arch Gen Psychiatry. 1992; 49: 935-942
    • (1992) Arch Gen Psychiatry. , vol.49 , pp. 935-942
    • Buchsbaum, M.S.1    Haier, R.J.2    Potkin, S.G.3
  • 100
    • 0035054355 scopus 로고    scopus 로고
    • Oxidative damage and schizophrenia: An overview of the evidence and its therapeutic implications
    • Yao JK, Reddy RD, van Kammen DP. Oxidative damage and schizophrenia: an overview of the evidence and its therapeutic implications. CNS Drugs 2001; 15: 287-310.
    • (2001) CNS Drugs , vol.15 , pp. 287-310
    • Yao, J.K.1    Reddy, R.D.2    Van Kammen, D.P.3
  • 103
    • 20444482775 scopus 로고    scopus 로고
    • Thiobarbituric acid reactive substances in the cerebrospinal fluid in schizophrenia
    • Skinner AO, Mahadik SP, Garver DL. Thiobarbituric acid reactive substances in the cerebrospinal fluid in schizophrenia. Schizophr Res 2005; 76: 83-87.
    • (2005) Schizophr Res , vol.76 , pp. 83-87
    • Skinner, A.O.1    Mahadik, S.P.2    Garver, D.L.3
  • 104
    • 0036592438 scopus 로고    scopus 로고
    • The indices of endogenous oxidative and antioxidative processes in plasma from schizophrenic patients. The possible role of oxidant/antioxidant imbalance
    • Akyol O, Herken H, Uz E et al. The indices of endogenous oxidative and antioxidative processes in plasma from schizophrenic patients. The possible role of oxidant/antioxidant imbalance. Prog Neuropsychopharmacol Biol Psychiatry 2002; 26: 995-1005.
    • (2002) Prog Neuropsychopharmacol Biol Psychiatry , vol.26 , pp. 995-1005
    • Akyol, O.1    Herken, H.2    Uz, E.3
  • 105
    • 0036096195 scopus 로고    scopus 로고
    • Lipid peroxidation and antioxidant enzyme levels in patients with schizophrenia and bipolar disorder
    • Kuloglu M, Ustundag B, Atmaca M, Canatan H, Tezcan AE, Cinkilinc N. Lipid peroxidation and antioxidant enzyme levels in patients with schizophrenia and bipolar disorder. Cell Biochem Funct 2002; 20: 171-175.
    • (2002) Cell Biochem Funct , vol.20 , pp. 171-175
    • Kuloglu, M.1    Ustundag, B.2    Atmaca, M.3    Canatan, H.4    Tezcan, A.E.5    Cinkilinc, N.6
  • 106
    • 12744278205 scopus 로고    scopus 로고
    • Altered expression of mitochondria-related genes in postmortem brains of patients with bipolar disorder or schizophrenia, as revealed by largescale DNA microarray analysis
    • Iwamoto K, Bundo M, Kato T. Altered expression of mitochondria-related genes in postmortem brains of patients with bipolar disorder or schizophrenia, as revealed by largescale DNA microarray analysis. Hum Mol Genet 2005; 14: 241-253.
    • (2005) Hum Mol Genet , vol.14 , pp. 241-253
    • Iwamoto, K.1    Bundo, M.2    Kato, T.3
  • 107
    • 67650376532 scopus 로고    scopus 로고
    • A comparative proteomics analysis of rat mitochondria from the cerebral cortex and hippocampus in response to antipsychotic medications
    • Ji B, La Y, Gao L et al. A comparative proteomics analysis of rat mitochondria from the cerebral cortex and hippocampus in response to antipsychotic medications. J Proteome Res 2009; 8: 3633-3641.
    • (2009) J Proteome Res , vol.8 , pp. 3633-3641
    • Ji, B.1    La Gao, Y.L.2
  • 109
    • 0035805113 scopus 로고    scopus 로고
    • The reduction of NADH ubiquinone oxidoreductase 24- and 75-kDa subunits in brains of patients with Down syndrome and Alzheimer's disease
    • Kim SH, Vlkolinsky R, Cairns N, Fountoulakis M, Lubec G. The reduction of NADH ubiquinone oxidoreductase 24- and 75-kDa subunits in brains of patients with Down syndrome and Alzheimer's disease. Life Sci 2001; 68: 2741-2750.
    • (2001) Life Sci , vol.68 , pp. 2741-2750
    • Kim, S.H.1    Vlkolinsky, R.2    Cairns, N.3    Fountoulakis, M.4    Lubec, G.5
  • 110
    • 0033679409 scopus 로고    scopus 로고
    • Decreased levels of complex III core protein 1 and complex v beta chain in brains from patients with Alzheimer's disease and Down syndrome
    • Kim SH, Vlkolinsky R, Cairns N, Lubec G. Decreased levels of complex III core protein 1 and complex V beta chain in brains from patients with Alzheimer's disease and Down syndrome. Cell Mol Life Sci 2000; 57: 1810-1816.
    • (2000) Cell Mol Life Sci , vol.57 , pp. 1810-1816
    • Kim, S.H.1    Vlkolinsky, R.2    Cairns, N.3    Lubec, G.4
  • 111
    • 79954497176 scopus 로고    scopus 로고
    • Deficit of complex i activity in human skin fibroblasts with chromosome 21 trisomy and overproduction of reactive oxygen species by mitochondria: Involvement of the cAMP/PKA signalling pathway
    • Valenti D,Manente GA, Moro L, Marra E, Vacca RA. Deficit of complex I activity in human skin fibroblasts with chromosome 21 trisomy and overproduction of reactive oxygen species by mitochondria: involvement of the cAMP/PKA signalling pathway. Biochem J 2011; 435: 679-688.
    • (2011) Biochem J , vol.435 , pp. 679-688
    • Valenti, D.1    Manente, G.A.2    Moro, L.3    Marra, E.4    Vacca, R.A.5
  • 112
    • 0032585825 scopus 로고    scopus 로고
    • Differential display reveals deteriorated mRNA levels of NADH3 (complex I) in cerebellum of patients with Down syndrome
    • Krapfenbauer K, Yoo BC, Cairns N, Lubec G. Differential display reveals deteriorated mRNA levels of NADH3 (complex I) in cerebellum of patients with Down syndrome. J Neural Transm Suppl 1999; 57: 211-220.
    • (1999) J Neural Transm Suppl , vol.57 , pp. 211-220
    • Krapfenbauer, K.1    Yoo, B.C.2    Cairns, N.3    Lubec, G.4
  • 113
    • 37349091097 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in mouse trisomy 16 brain
    • Bambrick LL, Fiskum G. Mitochondrial dysfunction in mouse trisomy 16 brain. Brain Res 2008; 1188: 9-16.
    • (2008) Brain Res , vol.1188 , pp. 9-16
    • Bambrick, L.L.1    Fiskum, G.2
  • 114
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk AJ, Pieretti M, Sutcliffe JS et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991; 65: 905-914.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3
  • 116
    • 58849130167 scopus 로고    scopus 로고
    • A novel function for fragile X mental retardation protein in translational activation
    • Bechara EG, Didiot MC, Melko M et al. A novel function for fragile X mental retardation protein in translational activation. PLoS Biol 2009; 7: e16.
    • (2009) PLoS Biol , vol.7
    • Bechara, E.G.1    Didiot, M.C.2    Melko, M.3
  • 117
    • 23844558266 scopus 로고    scopus 로고
    • A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine
    • Wallace DC. A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine. Annu Rev Genet 2005; 39: 359-407.
    • (2005) Annu Rev Genet , vol.39 , pp. 359-407
    • Wallace, D.C.1
  • 118
    • 77955071201 scopus 로고    scopus 로고
    • Evidence of mitochondrial dysfunction in fragile X-associated tremor/ ataxia syndrome
    • Ross-Inta C, Omanska-Klusek A, Wong S et al. Evidence of mitochondrial dysfunction in fragile X-associated tremor/ ataxia syndrome. Biochem J 2010; 429: 545-552.
    • (2010) Biochem J , vol.429 , pp. 545-552
    • Ross-Inta, C.1    Omanska-Klusek, A.2    Wong, S.3
  • 119
    • 79960111223 scopus 로고    scopus 로고
    • Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome
    • Napoli E, Ross-Inta C, Wong S et al. Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome. HumMol Genet 2011; 20: 3079-3092.
    • (2011) HumMol Genet , vol.20 , pp. 3079-3092
    • Napoli, E.1    Ross-Inta, C.2    Wong, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.