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Volumn 6, Issue 1, 2005, Pages 1-16

PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2

Author keywords

Dysmyelinating disorder; Mutations; Pelizaeus Merzbacher disease; PLP1; Spastic paraplegia type 2

Indexed keywords

ANTIGESTAGEN; ASCORBIC ACID; MUTANT PROTEIN; MYELIN PROTEIN; PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; UNCLASSIFIED DRUG;

EID: 15444363703     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-004-0207-y     Document Type: Review
Times cited : (239)

References (161)
  • 1
    • 34250558979 scopus 로고
    • Über eine eigentümliche Form spastischer Lähmung mit cerebral Erscheinungen auf hereditärer Grundlage (multiple Sklerose)
    • Pelizaeus F (1885) Über eine eigentümliche Form spastischer Lähmung mit cerebral Erscheinungen auf hereditärer Grundlage (multiple Sklerose). Arch Psychiatr Nervenkr 16:698-710
    • (1885) Arch Psychiatr Nervenkr , vol.16 , pp. 698-710
    • Pelizaeus, F.1
  • 2
    • 52449138850 scopus 로고
    • Eine eigenartige familiäre-hereditäre Erkrankungsform (Aplasia axialis extracorticalis congenita)
    • Merzbacher L (1910) Eine eigenartige familiäre-hereditäre Erkrankungsform (Aplasia axialis extracorticalis congenita) Z Ges Neurol Psychiatr 3:1-138
    • (1910) Z Ges Neurol Psychiatr , vol.3 , pp. 1-138
    • Merzbacher, L.1
  • 4
    • 0022409105 scopus 로고
    • Assignment of the gene for myelin proteolipid protein to the X chromosome: Implications for X-linked myelin disorders
    • Willard HF, Riordan JR (1985) Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders. Science 230:940-942
    • (1985) Science , vol.230 , pp. 940-942
    • Willard, H.F.1    Riordan, J.R.2
  • 5
    • 0024330420 scopus 로고
    • Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder
    • Hudson LD, Puckett C, Berndt J, Chan J, Gencic S (1989) Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. Proc Natl Acad Sci USA 86:8128-8131
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 8128-8131
    • Hudson, L.D.1    Puckett, C.2    Berndt, J.3    Chan, J.4    Gencic, S.5
  • 8
    • 0022889377 scopus 로고
    • Jimpy mutant mouse: A 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in mRNA splicing
    • Nave KA, Lai C, Bloom F, Milner RJ (1989) Jimpy mutant mouse: a 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in mRNA splicing. Proc Natl Acad Sci USA 83:9264-9268
    • (1989) Proc Natl Acad Sci USA , vol.83 , pp. 9264-9268
    • Nave, K.A.1    Lai, C.2    Bloom, F.3    Milner, R.J.4
  • 11
    • 0024430148 scopus 로고
    • Myelin-deficient rat: A point mutation in exon III (A→C, Thr 75→Pro) of myelin proteolipid protein causes dysmyelination and oligodendrocyte death
    • Boison D, Stoffel W (1989) Myelin-deficient rat: a point mutation in exon III (A→C, Thr 75→Pro) of myelin proteolipid protein causes dysmyelination and oligodendrocyte death. EMBO J 8:3295-3302
    • (1989) EMBO J , vol.8 , pp. 3295-3302
    • Boison, D.1    Stoffel, W.2
  • 12
    • 0025155194 scopus 로고
    • A point mutation in the proteolipid protein gene of the 'shaking pup' interrupts oligodendrocyte development
    • Nadon NL, Duncan ID, Hudson LD (1990) A point mutation in the proteolipid protein gene of the 'shaking pup' interrupts oligodendrocyte development. Development 110:529-537
    • (1990) Development , vol.110 , pp. 529-537
    • Nadon, N.L.1    Duncan, I.D.2    Hudson, L.D.3
  • 13
    • 0028153163 scopus 로고
    • Paralytic tremor (pt): A new allele of the proteolipid protein gene in rabbits
    • Tosic M, Dolivo M, Domanska-Janik K, Matthieu JM (1994) Paralytic tremor (pt): a new allele of the proteolipid protein gene in rabbits. J Neurochem 63:2210-2216
    • (1994) J Neurochem , vol.63 , pp. 2210-2216
    • Tosic, M.1    Dolivo, M.2    Domanska-Janik, K.3    Matthieu, J.M.4
  • 14
    • 0034639930 scopus 로고    scopus 로고
    • The proteolipid protein gene and myelin disorders in man and animal models
    • Yool DA, Edgar JM, Montague P, Malcolm S (2000) The proteolipid protein gene and myelin disorders in man and animal models. Hum Mol Genet 9:987-992
    • (2000) Hum Mol Genet , vol.9 , pp. 987-992
    • Yool, D.A.1    Edgar, J.M.2    Montague, P.3    Malcolm, S.4
  • 15
    • 0002367587 scopus 로고    scopus 로고
    • Pelizaeus-Merzbacher disease and the allelic disorder X-linked spastic paraplegia type 2
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
    • Hudson LD (2001) Pelizaeus-Merzbacher disease and the allelic disorder X-linked spastic paraplegia type 2. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited diseases. McGraw-Hill, New York, pp 5789-5798
    • (2001) The Metabolic and Molecular Basis of Inherited Diseases , pp. 5789-5798
    • Hudson, L.D.1
  • 16
    • 0032843709 scopus 로고    scopus 로고
    • The molecular pathogenesis of Pelizaeus-Merzbacher disease
    • Garbern J, Cambi F, Shy M, Kamholz J (1999) The molecular pathogenesis of Pelizaeus-Merzbacher disease. Arch Neurol 56:1210-1214
    • (1999) Arch Neurol , vol.56 , pp. 1210-1214
    • Garbern, J.1    Cambi, F.2    Shy, M.3    Kamholz, J.4
  • 17
  • 18
    • 0029145584 scopus 로고
    • Neuropathology and genetics of Pelizaeus-Merzbacher disease
    • Seitelberger F (1995) Neuropathology and genetics of Pelizaeus-Merzbacher disease. Brain Pathol 5:267-273
    • (1995) Brain Pathol , vol.5 , pp. 267-273
    • Seitelberger, F.1
  • 19
    • 0037444675 scopus 로고    scopus 로고
    • Proteolipid protein gene mutation induces altered ventilatory response to hypoxia in the myelin-deficient rat
    • Miller MJ, Haxhiu MA, Georgiadis P, Gudz TI, Kangas CD, Macklin WB (2003) Proteolipid protein gene mutation induces altered ventilatory response to hypoxia in the myelin-deficient rat. J Neurosci 23:2265-2273
    • (2003) J Neurosci , vol.23 , pp. 2265-2273
    • Miller, M.J.1    Haxhiu, M.A.2    Georgiadis, P.3    Gudz, T.I.4    Kangas, C.D.5    Macklin, W.B.6
  • 20
    • 0023036672 scopus 로고
    • Pelizaeus-Merzbacher disease: Clinical and nosological study
    • Boulloche J, Aicardi J (1986) Pelizaeus-Merzbacher disease: clinical and nosological study. J Child Neurol 1:233-239
    • (1986) J Child Neurol , vol.1 , pp. 233-239
    • Boulloche, J.1    Aicardi, J.2
  • 22
    • 0041522770 scopus 로고    scopus 로고
    • The hereditary spastic paraplegias: Nine genes and counting
    • Fink JK (2003) The hereditary spastic paraplegias: nine genes and counting. Arch Neurol 60:1045-1049
    • (2003) Arch Neurol , vol.60 , pp. 1045-1049
    • Fink, J.K.1
  • 23
    • 0002397825 scopus 로고
    • A sex-linked recessive form of spastic paraplegia
    • Johnston AW, McKusick VA (1962) A sex-linked recessive form of spastic paraplegia. Am J Hum Genet 14:83-94
    • (1962) Am J Hum Genet , vol.14 , pp. 83-94
    • Johnston, A.W.1    McKusick, V.A.2
  • 25
    • 0029863607 scopus 로고    scopus 로고
    • Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia
    • Cambi F, Tang XM, Cordray P, Fain PR, Keppen LD, Barker DF (1996) Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. Neurology 46:1112-1117
    • (1996) Neurology , vol.46 , pp. 1112-1117
    • Cambi, F.1    Tang, X.M.2    Cordray, P.3    Fain, P.R.4    Keppen, L.D.5    Barker, D.F.6
  • 27
    • 0034040115 scopus 로고    scopus 로고
    • Concepts of myelin and myelination in neuroradiology
    • Barkovich AJ (2000) Concepts of myelin and myelination in neuroradiology. AJNR Am J Neuroradiol 21:1099-1109
    • (2000) AJNR Am J Neuroradiol , vol.21 , pp. 1099-1109
    • Barkovich, A.J.1
  • 28
    • 0023848868 scopus 로고
    • Normal maturation of the neonatal and infant brain: MR imaging at 1.5 T
    • Barkovich AJ, Kjos BO, Jackson DE Jr, Norman D (1988) Normal maturation of the neonatal and infant brain: MR imaging at 1.5 T. Radiology 166:173-180
    • (1988) Radiology , vol.166 , pp. 173-180
    • Barkovich, A.J.1    Kjos, B.O.2    Jackson Jr., D.E.3    Norman, D.4
  • 29
    • 0030788635 scopus 로고    scopus 로고
    • MRI assessment of myelination of motor and sensory pathways in the brain of preterm and term-born infants
    • Sie LTL, van der Knaap MS, van Wezel-Meijler G, Valk J (1997) MRI assessment of myelination of motor and sensory pathways in the brain of preterm and term-born infants. Neuropediatrics 28:97-105
    • (1997) Neuropediatrics , vol.28 , pp. 97-105
    • Sie, L.T.L.1    Van Der Knaap, M.S.2    Van Wezel-Meijler, G.3    Valk, J.4
  • 30
    • 0032692761 scopus 로고    scopus 로고
    • MR-revealed myelination in the cerebral corticospinal tract as a marker for Pelizaeus-Merzbacher's disease with proteolipid protein gene duplication
    • Takanashi J, Sugita K, Tanabe Y, Nagasawa K, Inoue K, Osaka H, Kohno Y (1999) MR-revealed myelination in the cerebral corticospinal tract as a marker for Pelizaeus-Merzbacher's disease with proteolipid protein gene duplication. AJNR Am J Neuroradiol 20:1822-1828
    • (1999) AJNR Am J Neuroradiol , vol.20 , pp. 1822-1828
    • Takanashi, J.1    Sugita, K.2    Tanabe, Y.3    Nagasawa, K.4    Inoue, K.5    Osaka, H.6    Kohno, Y.7
  • 31
    • 0035202995 scopus 로고    scopus 로고
    • Compensating for central nervous system dysmyelination: Females with a proteolipid protein gene duplication and sustained clinical improvement
    • Inoue K, Tanaka H, Scaglia F, Araki A, Shaffer LG, Lupski JR (2001) Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement. Ann Neurol 50:747-754
    • (2001) Ann Neurol , vol.50 , pp. 747-754
    • Inoue, K.1    Tanaka, H.2    Scaglia, F.3    Araki, A.4    Shaffer, L.G.5    Lupski, J.R.6
  • 40
    • 0036136536 scopus 로고    scopus 로고
    • N-acetylaspartate is an axon-specific marker of mature white matter in vivo: A biochemical and immunohistochemical study on the rat optic nerve
    • Bjartmar C, Battistuta J, Terada N, Dupree E, Trapp BD (2002) N-acetylaspartate is an axon-specific marker of mature white matter in vivo: a biochemical and immunohistochemical study on the rat optic nerve. Ann Neurol 51:51-58
    • (2002) Ann Neurol , vol.51 , pp. 51-58
    • Bjartmar, C.1    Battistuta, J.2    Terada, N.3    Dupree, E.4    Trapp, B.D.5
  • 41
    • 0023389399 scopus 로고
    • Splice site selection in the proteolipid protein (PLP) gene transcript and primary structure of the DM-20 protein of central nervous system myelin
    • Nave KA, Lai C, Bloom FE, Milner RJ (1987) Splice site selection in the proteolipid protein (PLP) gene transcript and primary structure of the DM-20 protein of central nervous system myelin. Proc Natl Acad Sci USA 84:5665-5669
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 5665-5669
    • Nave, K.A.1    Lai, C.2    Bloom, F.E.3    Milner, R.J.4
  • 42
    • 0026980191 scopus 로고
    • Proteolipid protein (PLP) of CNS myelin: Positions of free, disulfide-bonded, and fatty acid thioester-linked cysteine residues and implications for the membrane topology of PLP
    • Weimbs T, Stoffel W (1992) Proteolipid protein (PLP) of CNS myelin: positions of free, disulfide-bonded, and fatty acid thioester-linked cysteine residues and implications for the membrane topology of PLP. Biochemistry 31:12289-12296
    • (1992) Biochemistry , vol.31 , pp. 12289-12296
    • Weimbs, T.1    Stoffel, W.2
  • 43
    • 0031025729 scopus 로고    scopus 로고
    • Conservation of topology, but not conformation, of the proteolipid proteins of the myelin sheath
    • Gow A, Gragerov A, Gard A, Colman DR, Lazzarini RA (1997) Conservation of topology, but not conformation, of the proteolipid proteins of the myelin sheath. J Neurosci 17:181-189
    • (1997) J Neurosci , vol.17 , pp. 181-189
    • Gow, A.1    Gragerov, A.2    Gard, A.3    Colman, D.R.4    Lazzarini, R.A.5
  • 44
    • 0026218558 scopus 로고
    • Major myelin proteolipid: The 4-alpha-helix topology
    • Popot JL, Pham Dinh D, Dautigny A (1991) Major myelin proteolipid: the 4-alpha-helix topology. J Membr Biol 123:278
    • (1991) J Membr Biol , vol.123 , pp. 278
    • Popot, J.L.1    Pham Dinh, D.2    Dautigny, A.3
  • 45
    • 0033216282 scopus 로고    scopus 로고
    • Identification of a new exon in the myelin proteolipid protein gene encoding novel protein isoforms that are restricted to the somata of oligodendrocytes and neurons
    • Bongarzone ER, Campagnoni CW, Kampf K, Jacobs EC, Handley VW, Schonmann V, Campagnoni AT (1999) Identification of a new exon in the myelin proteolipid protein gene encoding novel protein isoforms that are restricted to the somata of oligodendrocytes and neurons. J Neurosci 19:8349-8357
    • (1999) J Neurosci , vol.19 , pp. 8349-8357
    • Bongarzone, E.R.1    Campagnoni, C.W.2    Kampf, K.3    Jacobs, E.C.4    Handley, V.W.5    Schonmann, V.6    Campagnoni, A.T.7
  • 46
    • 0041912773 scopus 로고    scopus 로고
    • Soma-restricted products of the myelin proteolipid gene are expressed primarily in neurons in the developing mouse nervous system
    • Jacobs EC, Bongarzone ER, Campagnoni CW, Kampf K, Campagnoni AT (2003) Soma-restricted products of the myelin proteolipid gene are expressed primarily in neurons in the developing mouse nervous system. Dev Neurosci 25:96-104
    • (2003) Dev Neurosci , vol.25 , pp. 96-104
    • Jacobs, E.C.1    Bongarzone, E.R.2    Campagnoni, C.W.3    Kampf, K.4    Campagnoni, A.T.5
  • 47
    • 0026072543 scopus 로고
    • Induction of the myelin proteolipid protein (PLP) gene in C6 glioblastoma cells: Functional analysis of the PLP promotor
    • Nave KA, Lemke G (1991) Induction of the myelin proteolipid protein (PLP) gene in C6 glioblastoma cells: functional analysis of the PLP promotor. J Neurosci 11:3060-3069
    • (1991) J Neurosci , vol.11 , pp. 3060-3069
    • Nave, K.A.1    Lemke, G.2
  • 48
    • 0026736001 scopus 로고
    • Identification of cis-regulatory elements in the myelin proteolipid protein (PLP) gene
    • Berndt JA, Kim JG, Hudson LD (1992) Identification of cis-regulatory elements in the myelin proteolipid protein (PLP) gene. J Biol Chem 267:14730-14737
    • (1992) J Biol Chem , vol.267 , pp. 14730-14737
    • Berndt, J.A.1    Kim, J.G.2    Hudson, L.D.3
  • 49
    • 2442417374 scopus 로고    scopus 로고
    • Where, when and how much: Regulation of myelin proteolipid protein gene expression
    • Wight PA, Dobretsova A (2004) Where, when and how much: regulation of myelin proteolipid protein gene expression. Cell Mol Life Sci 61:810-821
    • (2004) Cell Mol Life Sci , vol.61 , pp. 810-821
    • Wight, P.A.1    Dobretsova, A.2
  • 51
    • 0027986675 scopus 로고
    • Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice
    • Boison D, Stoffel W (1994) Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice. Proc Natl Acad Sci USA 91:11709-11713
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 11709-11713
    • Boison, D.1    Stoffel, W.2
  • 52
    • 0037443707 scopus 로고    scopus 로고
    • Normal metabolism but different physical properties of myelin from mice deficient in proteolipid protein
    • Jurevics H, Hostettler J, Sammond DW, Nave KA, Toews AD, Morell P (2003) Normal metabolism but different physical properties of myelin from mice deficient in proteolipid protein. J Neurosci Res 71:826-834
    • (2003) J Neurosci Res , vol.71 , pp. 826-834
    • Jurevics, H.1    Hostettler, J.2    Sammond, D.W.3    Nave, K.A.4    Toews, A.D.5    Morell, P.6
  • 54
    • 0029127508 scopus 로고
    • Adhesive properties of proteolipid protein are responsible for the compaction of CNS myelin sheaths
    • Boison D, Bussow H, D'Urso D, Muller HW, Stoffel W (1995) Adhesive properties of proteolipid protein are responsible for the compaction of CNS myelin sheaths. J Neurosci 15:5502-5513
    • (1995) J Neurosci , vol.15 , pp. 5502-5513
    • Boison, D.1    Bussow, H.2    D'Urso, D.3    Muller, H.W.4    Stoffel, W.5
  • 56
    • 0026684098 scopus 로고
    • Selective expression of DM-20, an alternatively spliced myelin proteolipid protein gene product, in developing nervous system and in nonglial cells
    • Ikenaka K, Kagawa T, Mikoshiba K (1992) Selective expression of DM-20, an alternatively spliced myelin proteolipid protein gene product, in developing nervous system and in nonglial cells. J Neurochem 58:2248-2253
    • (1992) J Neurochem , vol.58 , pp. 2248-2253
    • Ikenaka, K.1    Kagawa, T.2    Mikoshiba, K.3
  • 57
    • 0030737007 scopus 로고    scopus 로고
    • In situ expression of PLP/DM-20, MBP, and CNP during embryonic and postnatal development of the jimpy mutant and of transgenic mice overexpressing PLP
    • Peyron F, Timsit S, Thomas JL, Kagawa T, Ikenaka K, Zalc B (1997) In situ expression of PLP/DM-20, MBP, and CNP during embryonic and postnatal development of the jimpy mutant and of transgenic mice overexpressing PLP. J Neurosci Res 50:190-201
    • (1997) J Neurosci Res , vol.50 , pp. 190-201
    • Peyron, F.1    Timsit, S.2    Thomas, J.L.3    Kagawa, T.4    Ikenaka, K.5    Zalc, B.6
  • 58
    • 0028928684 scopus 로고
    • Oligodendrocytes originate in a restricted zone of the embryonic ventral neural tube defined by DM-20 mRNA expression
    • Timsit S, Martinez S, Allinquant B, Peyron F, Puelles L, Zalc B (1995) Oligodendrocytes originate in a restricted zone of the embryonic ventral neural tube defined by DM-20 mRNA expression. J Neurosci 15:1012-1024
    • (1995) J Neurosci , vol.15 , pp. 1012-1024
    • Timsit, S.1    Martinez, S.2    Allinquant, B.3    Peyron, F.4    Puelles, L.5    Zalc, B.6
  • 59
    • 0028342518 scopus 로고
    • Embryonic expression of myelin genes: Evidence for a focal source of oligodendrocyte precursors in the ventricular zone of the neural tube
    • Yu WP, Collarini EJ, Pringle NP, Richardson WD (1994) Embryonic expression of myelin genes: evidence for a focal source of oligodendrocyte precursors in the ventricular zone of the neural tube. Neuron 12:1353-1362
    • (1994) Neuron , vol.12 , pp. 1353-1362
    • Yu, W.P.1    Collarini, E.J.2    Pringle, N.P.3    Richardson, W.D.4
  • 60
    • 0035097655 scopus 로고    scopus 로고
    • Sonic hedgehog contributes to oligodendrocyte specification in the mammalian forebrain
    • Nery S, Wichterle H, Fishell G (2001) Sonic hedgehog contributes to oligodendrocyte specification in the mammalian forebrain. Development 128:527-540
    • (2001) Development , vol.128 , pp. 527-540
    • Nery, S.1    Wichterle, H.2    Fishell, G.3
  • 61
    • 0033764232 scopus 로고    scopus 로고
    • Identification of a novel family of oligodendrocyte lineage-specific basic helix-loop-helix transcription factors
    • Zhou Q, Wang S, Anderson D.J (2000) Identification of a novel family of oligodendrocyte lineage-specific basic helix-loop-helix transcription factors. Neuron 25:331-343
    • (2000) Neuron , vol.25 , pp. 331-343
    • Zhou, Q.1    Wang, S.2    Anderson, D.J.3
  • 62
    • 0033767315 scopus 로고    scopus 로고
    • Sonic hedgehog-regulated oligodendrocyte lineage genes encoding bHLH proteins in the mammalian central nervous system
    • Lu QR, Yuk D, Alberta JA, Zhu Z, Pawlitzky I, Chan J, McMahon AP, Stiles CD, Rowitch DH (2000) Sonic hedgehog-regulated oligodendrocyte lineage genes encoding bHLH proteins in the mammalian central nervous system. Neuron 25:317-329
    • (2000) Neuron , vol.25 , pp. 317-329
    • Lu, Q.R.1    Yuk, D.2    Alberta, J.A.3    Zhu, Z.4    Pawlitzky, I.5    Chan, J.6    McMahon, A.P.7    Stiles, C.D.8    Rowitch, D.H.9
  • 64
    • 0028963118 scopus 로고
    • Expression of the proteolipid protein gene in glial cells of the post-natal peripheral nervous system of rodents
    • Griffiths IR, Dickinson P, Montague P (1995) Expression of the proteolipid protein gene in glial cells of the post-natal peripheral nervous system of rodents. Neuropathol Appl Neurobiol 21:97-110
    • (1995) Neuropathol Appl Neurobiol , vol.21 , pp. 97-110
    • Griffiths, I.R.1    Dickinson, P.2    Montague, P.3
  • 65
    • 0031057796 scopus 로고    scopus 로고
    • Origins of spinal cord oligodendrocytes: Possible developmental and evolutionary relationships with motor neurons
    • Richardson WD, Pringle NP, Yu WP, Hall AC (1997) Origins of spinal cord oligodendrocytes: possible developmental and evolutionary relationships with motor neurons. Dev Neurosci 19:58-68
    • (1997) Dev Neurosci , vol.19 , pp. 58-68
    • Richardson, W.D.1    Pringle, N.P.2    Yu, W.P.3    Hall, A.C.4
  • 66
    • 3142664532 scopus 로고    scopus 로고
    • Embryonic expression of the soma-restricted products of the myelin proteolipid gene in motor neurons and muscle
    • Jacobs EC, Bongarzone ER, Campagnoni CW, Campagnoni AT (2004) Embryonic expression of the soma-restricted products of the myelin proteolipid gene in motor neurons and muscle. Neurochem Res 29:997-1002
    • (2004) Neurochem Res , vol.29 , pp. 997-1002
    • Jacobs, E.C.1    Bongarzone, E.R.2    Campagnoni, C.W.3    Campagnoni, A.T.4
  • 72
    • 0027424792 scopus 로고
    • A proteolipid protein gene family: Expression in sharks and rays and possible evolution from an ancestral gene encoding a pore-forming polypeptide
    • Kitagawa K, Sinoway MP, Yang C, Gould RM, Colman DR (1993) A proteolipid protein gene family: expression in sharks and rays and possible evolution from an ancestral gene encoding a pore-forming polypeptide. Neuron 11:433-448
    • (1993) Neuron , vol.11 , pp. 433-448
    • Kitagawa, K.1    Sinoway, M.P.2    Yang, C.3    Gould, R.M.4    Colman, D.R.5
  • 73
    • 0030175347 scopus 로고    scopus 로고
    • Parallel evolution and coexpression of the proteolipid proteins and protein zero in vertebrate myelin
    • Yoshida M, Colman DR (1996) Parallel evolution and coexpression of the proteolipid proteins and protein zero in vertebrate myelin. Neuron 16:1115-1126
    • (1996) Neuron , vol.16 , pp. 1115-1126
    • Yoshida, M.1    Colman, D.R.2
  • 74
    • 0027443880 scopus 로고
    • Molecular cloning of M6: Identification of a PLP/DM 20 gene family
    • Yan Y, Lagenaur C, Narayanan C. (1993) Molecular cloning of M6: identification of a PLP/DM 20 gene family. Neuron 11:423-431
    • (1993) Neuron , vol.11 , pp. 423-431
    • Yan, Y.1    Lagenaur, C.2    Narayanan, C.3
  • 75
    • 0034212602 scopus 로고    scopus 로고
    • The evolution of lipophilin genes from invertebrates to tetrapods: DM-20 cannot replace proteolipid protein in CNS myelin
    • Stecca B, Southwood CM, Gragerov A, Kelley KA, Friedrich VL Jr, Gow A (2000) The evolution of lipophilin genes from invertebrates to tetrapods: DM-20 cannot replace proteolipid protein in CNS myelin. J Neurosci 20:4002-4010
    • (2000) J Neurosci , vol.20 , pp. 4002-4010
    • Stecca, B.1    Southwood, C.M.2    Gragerov, A.3    Kelley, K.A.4    Friedrich Jr., V.L.5    Gow, A.6
  • 76
    • 0036523094 scopus 로고    scopus 로고
    • Proteolipid protein gene modulates viability and phenotype of neurons
    • Boucher SE, Cypher MA, Carlock LR, Skoff RP (2002) Proteolipid protein gene modulates viability and phenotype of neurons. J Neurosci 22:1772-1783
    • (2002) J Neurosci , vol.22 , pp. 1772-1783
    • Boucher, S.E.1    Cypher, M.A.2    Carlock, L.R.3    Skoff, R.P.4
  • 77
    • 0038457566 scopus 로고    scopus 로고
    • Mouse NG2+ oligodendrocyte precursors express mRNA for proteolipid protein but not its DM-20 variant: A study of laser microdissection-captured NG2+ cells
    • Ye P, Bagnell R, D'Ercole AJ (2003) Mouse NG2+ oligodendrocyte precursors express mRNA for proteolipid protein but not its DM-20 variant: a study of laser microdissection-captured NG2+ cells. J Neurosci 23:4401-4405
    • (2003) J Neurosci , vol.23 , pp. 4401-4405
    • Ye, P.1    Bagnell, R.2    D'Ercole, A.J.3
  • 78
    • 0029861152 scopus 로고    scopus 로고
    • Myelin proteolipid protein (PLP), but not DM-20, is an inositol hexakisphosphate-binding protein
    • Yamaguchi Y, Ikenaka K, Niinobe M, Yamada H, Mikoshiba K (1996) Myelin proteolipid protein (PLP), but not DM-20, is an inositol hexakisphosphate- binding protein. J Biol Chem 271: 27838-27846
    • (1996) J Biol Chem , vol.271 , pp. 27838-27846
    • Yamaguchi, Y.1    Ikenaka, K.2    Niinobe, M.3    Yamada, H.4    Mikoshiba, K.5
  • 79
    • 0036759150 scopus 로고    scopus 로고
    • Myelin proteolipid protein forms a complex with integrins and may participate in integrin receptor signaling in oligodendrocytes
    • Gudz TI, Schneider TE, Haas TA, Macklin WB (2002) Myelin proteolipid protein forms a complex with integrins and may participate in integrin receptor signaling in oligodendrocytes. J Neurosci 22:7398-7407
    • (2002) J Neurosci , vol.22 , pp. 7398-7407
    • Gudz, T.I.1    Schneider, T.E.2    Haas, T.A.3    Macklin, W.B.4
  • 80
    • 0032965277 scopus 로고    scopus 로고
    • Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members
    • Sivakumar K, Sambuughin N, Selenge B, Nagle JW, Baasanjav D, Hudson LD, Goldfarb LG (1999) Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members. Ann Neurol 45:680-683
    • (1999) Ann Neurol , vol.45 , pp. 680-683
    • Sivakumar, K.1    Sambuughin, N.2    Selenge, B.3    Nagle, J.W.4    Baasanjav, D.5    Hudson, L.D.6    Goldfarb, L.G.7
  • 81
    • 0030811798 scopus 로고    scopus 로고
    • Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene
    • Bond C, Si X, Crisp M, Wong P, Paulson GW, Boesel CP, Dlouhy SR, Hodes ME (1997) Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene. Am J Med Genet 71:357-360
    • (1997) Am J Med Genet , vol.71 , pp. 357-360
    • Bond, C.1    Si, X.2    Crisp, M.3    Wong, P.4    Paulson, G.W.5    Boesel, C.P.6    Dlouhy, S.R.7    Hodes, M.E.8
  • 83
    • 0030036917 scopus 로고    scopus 로고
    • A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease
    • Gow A, Lazzarini RA (1996) A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease. Nat Genet 13:422-428
    • (1996) Nat Genet , vol.13 , pp. 422-428
    • Gow, A.1    Lazzarini, R.A.2
  • 84
    • 0026348463 scopus 로고
    • Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease
    • Raskind WH, Williams CA, Hudson LD, Bird TD (1991) Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. Am J Hum Genet 49:1355-1360
    • (1991) Am J Hum Genet , vol.49 , pp. 1355-1360
    • Raskind, W.H.1    Williams, C.A.2    Hudson, L.D.3    Bird, T.D.4
  • 85
    • 0030020210 scopus 로고    scopus 로고
    • A (G-to-A) mutation hi the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family
    • Sistermans EA, de Wijs IJ, de Coo RFM, Smit LM, Menko FH, van Oost BA (1996) A (G-to-A) mutation hi the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family. Hum Genet 97:337-339
    • (1996) Hum Genet , vol.97 , pp. 337-339
    • Sistermans, E.A.1    De Wijs, I.J.2    De Coo, R.F.M.3    Smit, L.M.4    Menko, F.H.5    Van Oost, B.A.6
  • 88
    • 0022540450 scopus 로고
    • Oligodendroglial cell death in jimpy mice: An explanation for the myelin deficit
    • Knapp PE, Skoff RP, Redstone DW (1986) Oligodendroglial cell death in jimpy mice: an explanation for the myelin deficit. J Neurosci 6:2813-2822
    • (1986) J Neurosci , vol.6 , pp. 2813-2822
    • Knapp, P.E.1    Skoff, R.P.2    Redstone, D.W.3
  • 89
    • 0032559544 scopus 로고    scopus 로고
    • Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease
    • Gow A, Southwood CM, Lazzarini RA (1998) Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease. J Cell Biol 140:925-934
    • (1998) J Cell Biol , vol.140 , pp. 925-934
    • Gow, A.1    Southwood, C.M.2    Lazzarini, R.A.3
  • 90
    • 0033039264 scopus 로고    scopus 로고
    • Programmed cell death without DNA fragmentation in the jimpy mouse: Secreted factors can enhance survival
    • Knapp PE, Bartlett WP, Williams LA, Yamada M, Ikenaka K, Skoff RP (1999) Programmed cell death without DNA fragmentation in the jimpy mouse: secreted factors can enhance survival. Cell Death Differ 6:136-145
    • (1999) Cell Death Differ , vol.6 , pp. 136-145
    • Knapp, P.E.1    Bartlett, W.P.2    Williams, L.A.3    Yamada, M.4    Ikenaka, K.5    Skoff, R.P.6
  • 91
    • 0029079396 scopus 로고
    • Dominant-negative action of the jimpy mutation in mice complemented with an autosomal transgene for myelin proteolipid protein
    • Schneider AM, Griffiths IR, Readhead C, Nave KA (1995) Dominant-negative action of the jimpy mutation in mice complemented with an autosomal transgene for myelin proteolipid protein. Proc Natl Acad Sci USA 92:4447-4451
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 4447-4451
    • Schneider, A.M.1    Griffiths, I.R.2    Readhead, C.3    Nave, K.A.4
  • 92
    • 0028017717 scopus 로고
    • A combination of PLP and DM 20 transgenes promotes partial myelination in the jimpy mouse
    • Nadon NL, Arnheiter H, Hudson LD (1994) A combination of PLP and DM 20 transgenes promotes partial myelination in the jimpy mouse. J Neurochem 63:822-833
    • (1994) J Neurochem , vol.63 , pp. 822-833
    • Nadon, N.L.1    Arnheiter, H.2    Hudson, L.D.3
  • 93
    • 0035869423 scopus 로고    scopus 로고
    • Molecular pathways of oligodendrocyte apoptosis revealed by mutations in the proteolipid protein gene
    • Southwood C, Gow A (2001) Molecular pathways of oligodendrocyte apoptosis revealed by mutations in the proteolipid protein gene. Microsc Res Tech 52:700-708
    • (2001) Microsc Res Tech , vol.52 , pp. 700-708
    • Southwood, C.1    Gow, A.2
  • 94
    • 0038037820 scopus 로고    scopus 로고
    • Role of calnexin in the glycan-independent quality control of proteolipid protein
    • Swanton E, High S, Woodman P (2003) Role of calnexin in the glycan-independent quality control of proteolipid protein. EMBO J 22:2948-2958
    • (2003) EMBO J , vol.22 , pp. 2948-2958
    • Swanton, E.1    High, S.2    Woodman, P.3
  • 95
    • 0037079142 scopus 로고    scopus 로고
    • The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease
    • Southwood CM, Garbern J, Jiang W, Gow A (2002) The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease. Neuron 36:585-596
    • (2002) Neuron , vol.36 , pp. 585-596
    • Southwood, C.M.1    Garbern, J.2    Jiang, W.3    Gow, A.4
  • 96
    • 0142139308 scopus 로고    scopus 로고
    • The unfolded protein response in protein aggregating diseases
    • Gow A, Sharma R (2003) The unfolded protein response in protein aggregating diseases. Neuromolecular Med 4:73-94
    • (2003) Neuromolecular Med , vol.4 , pp. 73-94
    • Gow, A.1    Sharma, R.2
  • 97
  • 100
    • 0032970391 scopus 로고    scopus 로고
    • A de novo splice donor site mutation causes in-frame deletion of 14 amino acids in the proteolipid protein in Pelizaeus-Merzbacher disease
    • Aoyagi Y, Kobayashi H, Tanaka K, Ozawa T, Nitta H, Tsuji S (1999) A de novo splice donor site mutation causes in-frame deletion of 14 amino acids in the proteolipid protein in Pelizaeus-Merzbacher disease. Ann Neurol 46:112-115
    • (1999) Ann Neurol , vol.46 , pp. 112-115
    • Aoyagi, Y.1    Kobayashi, H.2    Tanaka, K.3    Ozawa, T.4    Nitta, H.5    Tsuji, S.6
  • 103
    • 0031801082 scopus 로고    scopus 로고
    • Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease
    • Sistermans EA, de Coo RFM, De Wijs IJ, Van Oost BA (1998) Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. Neurology 50:1749-1754
    • (1998) Neurology , vol.50 , pp. 1749-1754
    • Sistermans, E.A.1    De Coo, R.F.M.2    De Wijs, I.J.3    Van Oost, B.A.4
  • 104
    • 0033365230 scopus 로고    scopus 로고
    • Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher disease: Duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not
    • Mimault C, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O (1999) Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. Am J Hum Genet 65:360-369
    • (1999) Am J Hum Genet , vol.65 , pp. 360-369
    • Mimault, C.1    Giraud, G.2    Courtois, V.3    Cailloux, F.4    Boire, J.Y.5    Dastugue, B.6    Boespflug-Tanguy, O.7
  • 105
    • 0032231957 scopus 로고    scopus 로고
    • Pelizaeus-Merzbacher disease: Identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH
    • Woodward K, Kendall E, Vetrie D, Malcolm S. (1998) Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH. Am J Hum Genet 63:207-217
    • (1998) Am J Hum Genet , vol.63 , pp. 207-217
    • Woodward, K.1    Kendall, E.2    Vetrie, D.3    Malcolm, S.4
  • 107
    • 0028240173 scopus 로고
    • Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease
    • Ellis D, Malcolm S (1994) Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease. Nat Genet 6:333-334
    • (1994) Nat Genet , vol.6 , pp. 333-334
    • Ellis, D.1    Malcolm, S.2
  • 108
    • 0031731487 scopus 로고    scopus 로고
    • Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
    • Lupski JR (1998) Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14:417-422
    • (1998) Trends Genet , vol.14 , pp. 417-422
    • Lupski, J.R.1
  • 109
  • 110
    • 0036468807 scopus 로고    scopus 로고
    • Genome architecture, rearrangements and genomic disorders
    • Stankiewicz P, Lupski JR (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet 18:74-82
    • (2002) Trends Genet , vol.18 , pp. 74-82
    • Stankiewicz, P.1    Lupski, J.R.2
  • 111
    • 0032972027 scopus 로고    scopus 로고
    • Prenatal diagnosis by FISH in a family with Pelizaeus-Merzbacher disease caused by duplication of PLP gene
    • Woodward K, Palmer R, Rao K, Malcolm S. (1999) Prenatal diagnosis by FISH in a family with Pelizaeus-Merzbacher disease caused by duplication of PLP gene. Prenat Diagn 19:266-268
    • (1999) Prenat Diagn , vol.19 , pp. 266-268
    • Woodward, K.1    Palmer, R.2    Rao, K.3    Malcolm, S.4
  • 113
    • 0036857871 scopus 로고    scopus 로고
    • Prenatal diagnosis of Pelizaeus-Merzbacher disease
    • Garbern J, Hobson G. (2002) Prenatal diagnosis of Pelizaeus-Merzbacher disease. Prenat Diagn 22:1033-1035
    • (2002) Prenat Diagn , vol.22 , pp. 1033-1035
    • Garbern, J.1    Hobson, G.2
  • 114
    • 0042344880 scopus 로고    scopus 로고
    • Myelination of a fetus with Pelizaeus-Merzbacher disease: Immunopathological study
    • Shiraishi K, Itoh M, Sano K, Takashima S, Kubota T (2003) Myelination of a fetus with Pelizaeus-Merzbacher disease: immunopathological study. Ann Neurol 54:259-262
    • (2003) Ann Neurol , vol.54 , pp. 259-262
    • Shiraishi, K.1    Itoh, M.2    Sano, K.3    Takashima, S.4    Kubota, T.5
  • 116
    • 0028325902 scopus 로고
    • Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage
    • Readhead C, Schneider A, Griffiths I, Nave KA (1994) Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage. Neuron 12:583-595
    • (1994) Neuron , vol.12 , pp. 583-595
    • Readhead, C.1    Schneider, A.2    Griffiths, I.3    Nave, K.A.4
  • 118
    • 0030176138 scopus 로고    scopus 로고
    • Cell death of oligodendrocytes or demyelination induced by overexpression of proteolipid protein depending on expressed gene dosage
    • Inoue Y, Kagawa T, Matsumura Y, Ikenaka K, Mikoshiba K (1996) Cell death of oligodendrocytes or demyelination induced by overexpression of proteolipid protein depending on expressed gene dosage. Neurosci Res 25:161-172
    • (1996) Neurosci Res , vol.25 , pp. 161-172
    • Inoue, Y.1    Kagawa, T.2    Matsumura, Y.3    Ikenaka, K.4    Mikoshiba, K.5
  • 119
    • 0037092050 scopus 로고    scopus 로고
    • Overexpression of the myelin proteolipid protein leads to accumulation of cholesterol and proteolipid protein in endosomes/lysosomes: Implications for Pelizaeus-Merzbacher disease
    • Simons M, Kramer EM, Macchi P, Rathke-Hartlieb S, Trotter J, Nave KA, Schulz JB (2002) Overexpression of the myelin proteolipid protein leads to accumulation of cholesterol and proteolipid protein in endosomes/lysosomes: implications for Pelizaeus-Merzbacher disease. J Cell Biol 157:327-336
    • (2002) J Cell Biol , vol.157 , pp. 327-336
    • Simons, M.1    Kramer, E.M.2    Macchi, P.3    Rathke-Hartlieb, S.4    Trotter, J.5    Nave, K.A.6    Schulz, J.B.7
  • 120
    • 0035469764 scopus 로고    scopus 로고
    • Differential expression of apoptotic markers in jimpy and in Plp overexpressors: Evidence for different apoptotic pathways
    • Cerghet M, Bessert DA, Nave KA, Skoff RP (2001) Differential expression of apoptotic markers in jimpy and in Plp overexpressors: evidence for different apoptotic pathways. J Neurocytol 30:841-855
    • (2001) J Neurocytol , vol.30 , pp. 841-855
    • Cerghet, M.1    Bessert, D.A.2    Nave, K.A.3    Skoff, R.P.4
  • 121
    • 0034597142 scopus 로고    scopus 로고
    • Assembly of myelin by association of proteolipid protein with cholesterol- And galactosylceramide-rich membrane domains
    • Simons M, Kramer EM, Thiele C, Stoffel W, Trotter J (2000) Assembly of myelin by association of proteolipid protein with cholesterol- and galactosylceramide-rich membrane domains. J Cell Biol 151:143-154
    • (2000) J Cell Biol , vol.151 , pp. 143-154
    • Simons, M.1    Kramer, E.M.2    Thiele, C.3    Stoffel, W.4    Trotter, J.5
  • 122
    • 1842526843 scopus 로고    scopus 로고
    • Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease
    • Shaw CJ, Lupski JR (2004) Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 13:R57-64
    • (2004) Hum Mol Genet , vol.13
    • Shaw, C.J.1    Lupski, J.R.2
  • 125
    • 0041319389 scopus 로고    scopus 로고
    • Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease
    • Woodward K, Cundall M, Palmer R, Surtees R, Winter RM, Malcolm S (2003) Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease. Am J Med Genet 118A:15-24
    • (2003) Am J Med Genet , vol.118 A , pp. 15-24
    • Woodward, K.1    Cundall, M.2    Palmer, R.3    Surtees, R.4    Winter, R.M.5    Malcolm, S.6
  • 127
    • 0030869978 scopus 로고    scopus 로고
    • Pelizaeus-Merzbacher-like disease: Exclusion of the proteolipid protein locus and documentation of a new locus on Xq
    • Lazzarini A, Schwarz KO, Jiang S, Stenroos ES, Lehner T, Johnson WG, (1997) Pelizaeus-Merzbacher-like disease: exclusion of the proteolipid protein locus and documentation of a new locus on Xq. Neurology 49:824-832
    • (1997) Neurology , vol.49 , pp. 824-832
    • Lazzarini, A.1    Schwarz, K.O.2    Jiang, S.3    Stenroos, E.S.4    Lehner, T.5    Johnson, W.G.6
  • 131
    • 0032833425 scopus 로고    scopus 로고
    • Myelin deficiencies in both the central and peripheral nervous system associated with a SOX10 mutation
    • Inoue K, Tanabe Y, Lupski J (1999) Myelin deficiencies in both the central and peripheral nervous system associated with a SOX10 mutation. Ann Neurol 46:313-318
    • (1999) Ann Neurol , vol.46 , pp. 313-318
    • Inoue, K.1    Tanabe, Y.2    Lupski, J.3
  • 132
    • 0036894042 scopus 로고    scopus 로고
    • Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: Phenotypes linked by SOX10 mutation
    • Inoue K, Shilo K, Boerkoel CF, Crowe C, Sawady J, Lupski JR, Agamanolis DP (2002) Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation. Ann Neurol 52:836-842
    • (2002) Ann Neurol , vol.52 , pp. 836-842
    • Inoue, K.1    Shilo, K.2    Boerkoel, C.F.3    Crowe, C.4    Sawady, J.5    Lupski, J.R.6    Agamanolis, D.P.7
  • 137
    • 0029960739 scopus 로고    scopus 로고
    • Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease
    • Nance MA, Boyadjiev S, Pratt VM, Taylor S, Hodes ME, Dlouhy S. R (1996) Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease. Neurology 47:1333-1335
    • (1996) Neurology , vol.47 , pp. 1333-1335
    • Nance, M.A.1    Boyadjiev, S.2    Pratt, V.M.3    Taylor, S.4    Hodes, M.E.5    Dlouhy, S.R.6
  • 138
    • 0031042927 scopus 로고    scopus 로고
    • Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease
    • Hodes ME, Blank CA, Pratt VM, Morales J, Napier J, Dlouhy SR (1997) Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease. Am J Med Genet 69:121-125
    • (1997) Am J Med Genet , vol.69 , pp. 121-125
    • Hodes, M.E.1    Blank, C.A.2    Pratt, V.M.3    Morales, J.4    Napier, J.5    Dlouhy, S.R.6
  • 139
    • 0028898697 scopus 로고
    • Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene
    • Hodes ME, DeMyer WE, Pratt VM, Edwards MK, Dlouhy SR (1995) Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene. Am J Med Genet 55:397-401
    • (1995) Am J Med Genet , vol.55 , pp. 397-401
    • Hodes, M.E.1    DeMyer, W.E.2    Pratt, V.M.3    Edwards, M.K.4    Dlouhy, S.R.5
  • 140
    • 0022518518 scopus 로고
    • Expression of the jimpy gene in the spinal cords of heterozygous female mice. I. An early myelin deficit followed by compensation
    • Bartlett WP, Skoff RP (1986) Expression of the jimpy gene in the spinal cords of heterozygous female mice. I. An early myelin deficit followed by compensation. J Neurosci 6:2802-2812
    • (1986) J Neurosci , vol.6 , pp. 2802-2812
    • Bartlett, W.P.1    Skoff, R.P.2
  • 141
    • 0024510516 scopus 로고
    • Expression of the jimpy gene in the spinal cords of heterozygous female mice. 2. Oligodendroglial and endothelial cell hyperplasia
    • Bartlett WP, Skoff RP (1989) Expression of the jimpy gene in the spinal cords of heterozygous female mice. 2. Oligodendroglial and endothelial cell hyperplasia. Brain Res Dev Brain Res 47:1-11
    • (1989) Brain Res Dev Brain Res , vol.47 , pp. 1-11
    • Bartlett, W.P.1    Skoff, R.P.2
  • 144
    • 0031738458 scopus 로고    scopus 로고
    • Myelin mosaicism and brain plasticity in heterozygous females of a canine X-linked trait
    • Cuddon PA, Lipsitz D, Duncan ID (1998) Myelin mosaicism and brain plasticity in heterozygous females of a canine X-linked trait. Ann Neurol 44:771-779
    • (1998) Ann Neurol , vol.44 , pp. 771-779
    • Cuddon, P.A.1    Lipsitz, D.2    Duncan, I.D.3
  • 145
    • 0034119909 scopus 로고    scopus 로고
    • X-inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: Skewed in carriers of a duplication and random in carriers of point mutations
    • Woodward K, Kirtland K, Dlouhy S, Raskind W, Bird T, Malcolm S, Abeliovich D (2000) X-inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations. Eur J Hum Genet 8:449-454
    • (2000) Eur J Hum Genet , vol.8 , pp. 449-454
    • Woodward, K.1    Kirtland, K.2    Dlouhy, S.3    Raskind, W.4    Bird, T.5    Malcolm, S.6    Abeliovich, D.7
  • 147
    • 0141499228 scopus 로고    scopus 로고
    • Myelin-associated inhibitors of axonal regeneration in the adult mammalian CNS
    • Filbin MT (2003) Myelin-associated inhibitors of axonal regeneration in the adult mammalian CNS. Nat Rev Neurosci 4:703-713
    • (2003) Nat Rev Neurosci , vol.4 , pp. 703-713
    • Filbin, M.T.1
  • 148
    • 0242468855 scopus 로고    scopus 로고
    • Notch signaling: A rheostat regulating oligodendrocyte differentiation?
    • Popko B (2003) Notch signaling: a rheostat regulating oligodendrocyte differentiation? Dev Cell 5:668-669
    • (2003) Dev Cell , vol.5 , pp. 668-669
    • Popko, B.1
  • 149
    • 0033523879 scopus 로고    scopus 로고
    • Integrins mediate a neuronal survival signal for oligodendrocytes
    • Frost EE, Buttery PC, Milner R, ffrench-Constant C (1999) Integrins mediate a neuronal survival signal for oligodendrocytes. Curr Biol 9:1251-1254
    • (1999) Curr Biol , vol.9 , pp. 1251-1254
    • Frost, E.E.1    Buttery, P.C.2    Milner, R.3    Ffrench-Constant, C.4
  • 150
    • 0031195978 scopus 로고    scopus 로고
    • Signals that initiate myelination in the developing mammalian nervous system
    • Colello RJ, Pott U (1997) Signals that initiate myelination in the developing mammalian nervous system. Mol Neurobiol 15:83-100
    • (1997) Mol Neurobiol , vol.15 , pp. 83-100
    • Colello, R.J.1    Pott, U.2
  • 155
  • 157
    • 0347185347 scopus 로고    scopus 로고
    • Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A)
    • Sereda MW, Meyer zu Horste G, Suter U, Uzma N, Nave KA (2003) Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat Med 9:1533-1537
    • (2003) Nat Med , vol.9 , pp. 1533-1537
    • Sereda, M.W.1    Meyer Zu Horste, G.2    Suter, U.3    Uzma, N.4    Nave, K.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.