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Volumn 75, Issue 1, 2014, Pages 22-32

Glial localization of antiquitin: Implications for pyridoxine-dependent epilepsy

Author keywords

[No Author keywords available]

Indexed keywords

ALDEHYDE DEHYDROGEN 7A1; ALDEHYDE DEHYDROGENASE; LYSINE; PYRIDOXINE; UNCLASSIFIED DRUG;

EID: 84894053452     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24027     Document Type: Article
Times cited : (38)

References (45)
  • 1
    • 0000743130 scopus 로고
    • Pyridoxine dependency: Report of a case of intractable convulsions in an infant controlled by pyridoxine
    • Hunt AD Jr, Stokes J Jr, McCrory WW, Stroud HH,. Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine. Pediatrics 1954; 13: 140-145.
    • (1954) Pediatrics , vol.13 , pp. 140-145
    • Hunt, Jr.A.D.1    Stokes, Jr.J.2    McCrory, W.W.3    Stroud, H.H.4
  • 3
    • 67349248477 scopus 로고    scopus 로고
    • Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: Review of 63 North American cases submitted to a patient registry
    • Basura GJ, Hagland SP, Wiltse AM, Gospe SM Jr,. Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. Eur J Pediatr 2009; 168: 697-704.
    • (2009) Eur J Pediatr , vol.168 , pp. 697-704
    • Basura, G.J.1    Hagland, S.P.2    Wiltse, A.M.3    Gospe, Jr.S.M.4
  • 4
    • 33644821320 scopus 로고    scopus 로고
    • Mutations in antiquitin in individuals with pyridoxine-dependent seizures
    • Mills PB, Struys E, Jakobs C, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 2006; 12: 307-309.
    • (2006) Nat Med , vol.12 , pp. 307-309
    • Mills, P.B.1    Struys, E.2    Jakobs, C.3
  • 5
    • 0028357270 scopus 로고
    • Homology between a human protein and a protein of the green garden pea
    • Lee P, Kuhl W, Gelbart T, et al. Homology between a human protein and a protein of the green garden pea. Genomics 1994; 21: 371-378.
    • (1994) Genomics , vol.21 , pp. 371-378
    • Lee, P.1    Kuhl, W.2    Gelbart, T.3
  • 6
  • 7
    • 0142186241 scopus 로고    scopus 로고
    • A genomic overview of pyridoxal-phosphate-dependent enzymes
    • Percudani R, Peracchi A,. A genomic overview of pyridoxal-phosphate- dependent enzymes. EMBO Rep 2003; 4: 850-854.
    • (2003) EMBO Rep , vol.4 , pp. 850-854
    • Percudani, R.1    Peracchi, A.2
  • 8
    • 79955599352 scopus 로고    scopus 로고
    • Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity
    • Brocker C, Cantore M, Failli P, Vasiliou V,. Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity. Chem Biol Interact 2011; 191: 269-277.
    • (2011) Chem Biol Interact , vol.191 , pp. 269-277
    • Brocker, C.1    Cantore, M.2    Failli, P.3    Vasiliou, V.4
  • 9
    • 79957558201 scopus 로고    scopus 로고
    • Human antiquitin: Structural and functional studies
    • Chan C-L, Wong JWY, Wong C-P, et al. Human antiquitin: structural and functional studies. Chem Biol Interact 2011; 191: 165-170.
    • (2011) Chem Biol Interact , vol.191 , pp. 165-170
    • Chan, C.-L.1    Wong, J.W.Y.2    Wong, C.-P.3
  • 10
    • 84864362351 scopus 로고    scopus 로고
    • Overexpression of human antiquitin in E. Coli: Enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy
    • Coulter-Mackie MB, Li A, Lian Q, et al. Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. Mol Genet Metab 2012; 106: 478-481.
    • (2012) Mol Genet Metab , vol.106 , pp. 478-481
    • Coulter-Mackie, M.B.1    Li, A.2    Lian, Q.3
  • 11
    • 77957552434 scopus 로고    scopus 로고
    • The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1
    • Scharer G, Brocker C, Vasiliou V, et al. The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. J Inherit Metab Dis 2010; 33: 571-581.
    • (2010) J Inherit Metab Dis , vol.33 , pp. 571-581
    • Scharer, G.1    Brocker, C.2    Vasiliou, V.3
  • 12
    • 77954377790 scopus 로고    scopus 로고
    • Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
    • Mills PB, Footitt EJ, Mills KA, et al. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain 2010; 133: 2148-2159.
    • (2010) Brain , vol.133 , pp. 2148-2159
    • Mills, P.B.1    Footitt, E.J.2    Mills, K.A.3
  • 13
    • 84873414212 scopus 로고    scopus 로고
    • Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option
    • Pérez B, Gutiérrez-Solana LG, Verdú A, et al. Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. Epilepsia 2013; 54: 239-248.
    • (2013) Epilepsia , vol.54 , pp. 239-248
    • Pérez, B.1    Gutiérrez-Solana, L.G.2    Verdú, A.3
  • 14
    • 70349235334 scopus 로고    scopus 로고
    • Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures
    • Sadilkova K, Gospe SM, Hahn SH,. Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures. J Neurosci Methods 2009; 184: 136-141.
    • (2009) J Neurosci Methods , vol.184 , pp. 136-141
    • Sadilkova, K.1    Gospe, S.M.2    Hahn, S.H.3
  • 15
    • 78651274775 scopus 로고    scopus 로고
    • The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission
    • Blumcke I, Thom M, Aronica E, et al. The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia 2011; 52: 158-174.
    • (2011) Epilepsia , vol.52 , pp. 158-174
    • Blumcke, I.1    Thom, M.2    Aronica, E.3
  • 16
    • 33644557378 scopus 로고    scopus 로고
    • Neuropathologic substrate of cerebral palsy
    • Folkerth RD,. Neuropathologic substrate of cerebral palsy. J Child Neurol 2005; 20: 940-949.
    • (2005) J Child Neurol , vol.20 , pp. 940-949
    • Folkerth, R.D.1
  • 17
    • 0017903491 scopus 로고
    • Vitamin B6-dependent seizures: Pathology and chemical findings in brain
    • Lott IT, Coulombe T, Di Paolo RV, et al. Vitamin B6-dependent seizures: pathology and chemical findings in brain. Neurology 1978; 28: 47-54.
    • (1978) Neurology , vol.28 , pp. 47-54
    • Lott, I.T.1    Coulombe, T.2    Di Paolo, R.V.3
  • 18
    • 0026470695 scopus 로고
    • Disturbance of GABA metabolism in pyridoxine-dependent seizures
    • Kurlemann G, Ziegler R, Grüneberg M, et al. Disturbance of GABA metabolism in pyridoxine-dependent seizures. Neuropediatrics 1992; 23: 257-259.
    • (1992) Neuropediatrics , vol.23 , pp. 257-259
    • Kurlemann, G.1    Ziegler, R.2    Grüneberg, M.3
  • 19
    • 33645288871 scopus 로고    scopus 로고
    • Evidence that GAD65 mediates increased GABA synthesis during intense neuronal activity in vivo
    • Patel AB, de Graaf RA, Martin DL, et al. Evidence that GAD65 mediates increased GABA synthesis during intense neuronal activity in vivo. J Neurochem 2006; 97: 385-396.
    • (2006) J Neurochem , vol.97 , pp. 385-396
    • Patel, A.B.1    De Graaf, R.A.2    Martin, D.L.3
  • 20
    • 0032416442 scopus 로고    scopus 로고
    • Two isoforms of glutamate decarboxylase: Why?
    • Soghomonian JJ, Martin DL,. Two isoforms of glutamate decarboxylase: why? Trends Pharmacol Sci 1998; 19: 500-505.
    • (1998) Trends Pharmacol Sci , vol.19 , pp. 500-505
    • Soghomonian, J.J.1    Martin, D.L.2
  • 21
    • 67651036549 scopus 로고    scopus 로고
    • The glial nature of embryonic and adult neural stem cells
    • Kriegstein A, Alvarez-Buylla A,. The glial nature of embryonic and adult neural stem cells. Annu Rev Neurosci 2009; 32: 149-184.
    • (2009) Annu Rev Neurosci , vol.32 , pp. 149-184
    • Kriegstein, A.1    Alvarez-Buylla, A.2
  • 22
    • 67650960626 scopus 로고    scopus 로고
    • Molecular regulation of neuronal migration during neocortical development
    • Huang Z,. Molecular regulation of neuronal migration during neocortical development. Mol Cell Neurosci 2009; 42: 11-22.
    • (2009) Mol Cell Neurosci , vol.42 , pp. 11-22
    • Huang, Z.1
  • 23
    • 84875178160 scopus 로고    scopus 로고
    • Radial microcolumnar cortical architecture: Maturational arrest or cortical dysplasia?
    • Sarnat HB, Flores-Sarnat L,. Radial microcolumnar cortical architecture: maturational arrest or cortical dysplasia? Pediatr Neurol 2013; 48: 259-270.
    • (2013) Pediatr Neurol , vol.48 , pp. 259-270
    • Sarnat, H.B.1    Flores-Sarnat, L.2
  • 24
    • 78149420023 scopus 로고    scopus 로고
    • A distinct variant of focal cortical dysplasia type i characterised by magnetic resonance imaging and neuropathological examination in children with severe epilepsies
    • Blümcke I, Pieper T, Pauli E, et al. A distinct variant of focal cortical dysplasia type I characterised by magnetic resonance imaging and neuropathological examination in children with severe epilepsies. Epileptic Disord 2010; 12: 172-180.
    • (2010) Epileptic Disord , vol.12 , pp. 172-180
    • Blümcke, I.1    Pieper, T.2    Pauli, E.3
  • 25
    • 0026567180 scopus 로고
    • Gray matter heterotopias: MR characteristics and correlation with developmental and neurologic manifestations
    • Barkovich AJ, Kjos BO,. Gray matter heterotopias: MR characteristics and correlation with developmental and neurologic manifestations. Radiology 1992; 182: 493-499.
    • (1992) Radiology , vol.182 , pp. 493-499
    • Barkovich, A.J.1    Kjos, B.O.2
  • 26
    • 77953307970 scopus 로고    scopus 로고
    • Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress
    • Brocker C, Lassen N, Estey T, et al. Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress. J Biol Chem 2010; 285: 18452-18463.
    • (2010) J Biol Chem , vol.285 , pp. 18452-18463
    • Brocker, C.1    Lassen, N.2    Estey, T.3
  • 27
    • 77649190846 scopus 로고    scopus 로고
    • Ependymal cells: Biology and pathology
    • Del Bigio MR,. Ependymal cells: biology and pathology. Acta Neuropathol 2009; 119: 55-73.
    • (2009) Acta Neuropathol , vol.119 , pp. 55-73
    • Del Bigio, M.R.1
  • 28
    • 12144262775 scopus 로고    scopus 로고
    • Adult ependymal cells are postmitotic and are derived from radial glial cells during embryogenesis
    • Spassky N,. Adult ependymal cells are postmitotic and are derived from radial glial cells during embryogenesis. J Neurosci 2005; 25: 10-18.
    • (2005) J Neurosci , vol.25 , pp. 10-18
    • Spassky, N.1
  • 29
    • 69449102409 scopus 로고    scopus 로고
    • Astrocytic dysfunction in epileptogenesis: Consequence of altered potassium and glutamate homeostasis?
    • David Y, Cacheaux LP, Ivens S, et al. Astrocytic dysfunction in epileptogenesis: consequence of altered potassium and glutamate homeostasis? J Neurosci 2009; 29: 10588-10599.
    • (2009) J Neurosci , vol.29 , pp. 10588-10599
    • David, Y.1    Cacheaux, L.P.2    Ivens, S.3
  • 30
    • 84857207651 scopus 로고    scopus 로고
    • Cobblestone lissencephaly: Neuropathological subtypes and correlations with genes of dystroglycanopathies
    • (pt).
    • Devisme L, Bouchet C, Gonzalès M, et al. Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain 2012; 135 (pt 2): 469-482.
    • (2012) Brain , vol.135 , Issue.2 , pp. 469-482
    • Devisme, L.1    Bouchet, C.2    Gonzalès, M.3
  • 31
    • 0011956154 scopus 로고    scopus 로고
    • Pyridoxine dependent and pyridoxine responsive seizures
    • Baxter P. ed. London, UK: MacKeith Press.
    • Baxter P., Pyridoxine dependent and pyridoxine responsive seizures. In:, Baxter P, ed. Vitamin responsive conditions in paediatric neurology. London, UK: MacKeith Press, 2001: 109-165.
    • (2001) Vitamin Responsive Conditions in Paediatric Neurology , pp. 109-165
    • Baxter, P.1
  • 32
    • 0018084697 scopus 로고
    • Infantile convulsion suspected of pyridoxine responsive seizures
    • Miyasaki K, Matsumoto J, Murao S, et al. Infantile convulsion suspected of pyridoxine responsive seizures. Acta Pathol Jpn 1978; 28: 741-749.
    • (1978) Acta Pathol Jpn , vol.28 , pp. 741-749
    • Miyasaki, K.1    Matsumoto, J.2    Murao, S.3
  • 33
    • 84865741988 scopus 로고    scopus 로고
    • Surgical treatment of epilepsy associated with cortical dysplasia: 2012 update
    • (suppl).
    • Hauptman JS, Mathern GW,. Surgical treatment of epilepsy associated with cortical dysplasia: 2012 update. Epilepsia 2012; 53 (suppl 4): 98-104.
    • (2012) Epilepsia , vol.53 , Issue.4 , pp. 98-104
    • Hauptman, J.S.1    Mathern, G.W.2
  • 34
    • 0036310070 scopus 로고    scopus 로고
    • Seizure-induced hippocampal damage in the mature and immature brain
    • Lado FA, Laureta EC, Moshé SL,. Seizure-induced hippocampal damage in the mature and immature brain. Epileptic Disord 2002; 4: 83-97.
    • (2002) Epileptic Disord , vol.4 , pp. 83-97
    • Lado, F.A.1    Laureta, E.C.2    Moshé, S.L.3
  • 35
    • 38149129457 scopus 로고    scopus 로고
    • A transcriptome database for astrocytes, neurons, and oligodendrocytes: A new resource for understanding brain development and function
    • Cahoy JD, Emery B, Kaushal A, et al. A transcriptome database for astrocytes, neurons, and oligodendrocytes: a new resource for understanding brain development and function. J Neurosci 2008; 28: 264-278.
    • (2008) J Neurosci , vol.28 , pp. 264-278
    • Cahoy, J.D.1    Emery, B.2    Kaushal, A.3
  • 36
    • 0031596938 scopus 로고    scopus 로고
    • Sjögren-Larsson syndrome: Postmortem brain abnormalities
    • Yamaguchi K, Handa T,. Sjögren-Larsson syndrome: postmortem brain abnormalities. Pediatr Neurol 1998; 18: 338-341.
    • (1998) Pediatr Neurol , vol.18 , pp. 338-341
    • Yamaguchi, K.1    Handa, T.2
  • 37
    • 78650213727 scopus 로고    scopus 로고
    • Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency
    • Acosta MT, Munasinghe J, Pearl PL, et al. Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency. J Child Neurol 2010; 25: 1457-1461.
    • (2010) J Child Neurol , vol.25 , pp. 1457-1461
    • Acosta, M.T.1    Munasinghe, J.2    Pearl, P.L.3
  • 38
    • 84863310415 scopus 로고    scopus 로고
    • 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase
    • Sass JO, Walter M, Shield JPH, et al. 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase. J Inherit Metab Dis 2011; 35: 437-442.
    • (2011) J Inherit Metab Dis , vol.35 , pp. 437-442
    • Sass, J.O.1    Walter, M.2    Shield, J.P.H.3
  • 39
    • 0026635106 scopus 로고
    • Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria
    • Chitayat D, Meagher-Villemure K, Mamer OA, et al. Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria. J Pediatr 1992; 121: 86-89.
    • (1992) J Pediatr , vol.121 , pp. 86-89
    • Chitayat, D.1    Meagher-Villemure, K.2    Mamer, O.A.3
  • 40
    • 68349104143 scopus 로고    scopus 로고
    • Neuropathology of 3-hydroxyisobutyric aciduria, an autopsy case report
    • Song X, Anderson V, Guzman M, Rao C,. Neuropathology of 3-hydroxyisobutyric aciduria, an autopsy case report. Can J Neurol Sci 2009; 36: 483-486.
    • (2009) Can J Neurol Sci , vol.36 , pp. 483-486
    • Song, X.1    Anderson, V.2    Guzman, M.3    Rao, C.4
  • 41
    • 53249083951 scopus 로고    scopus 로고
    • A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome
    • Bicknell LS, Pitt J, Aftimos S, et al. A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. Eur J Hum Genet 2008; 16: 1176-1186.
    • (2008) Eur J Hum Genet , vol.16 , pp. 1176-1186
    • Bicknell, L.S.1    Pitt, J.2    Aftimos, S.3
  • 42
    • 36148958973 scopus 로고    scopus 로고
    • An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1)
    • Salomons GS, Bok LA, Struys EA, et al. An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1). Ann Neurol 2007; 62: 414-418.
    • (2007) Ann Neurol , vol.62 , pp. 414-418
    • Salomons, G.S.1    Bok, L.A.2    Struys, E.A.3
  • 43
    • 80052599284 scopus 로고    scopus 로고
    • Pyridoxine dependent epilepsy and antiquitin deficiency: Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up
    • Stockler S, Plecko B, Gospe SM Jr, et al. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab 2011; 104: 48-60.
    • (2011) Mol Genet Metab , vol.104 , pp. 48-60
    • Stockler, S.1    Plecko, B.2    Gospe, Jr.S.M.3
  • 45
    • 84867901867 scopus 로고    scopus 로고
    • Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials
    • Van Karnebeek CDM, Hartmann H, Jaggumantri S, et al. Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. Mol Genet Metab 2012; 107: 335-344.
    • (2012) Mol Genet Metab , vol.107 , pp. 335-344
    • Van Karnebeek, C.D.M.1    Hartmann, H.2    Jaggumantri, S.3


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