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Volumn 2, Issue 1, 1996, Pages 33-43

X-linked development defects of myelination: From mouse mutants to human genetic diseases

Author keywords

Gene dosage effects; Glial cell death; Mouse mutants; Pelizaeus Merzbacher disease; Proteolipid protein gene; Spastic paraplegia; Transgenic mice

Indexed keywords


EID: 0002768920     PISSN: 10738584     EISSN: None     Source Type: Journal    
DOI: 10.1177/107385849600200111     Document Type: Review
Times cited : (64)

References (80)
  • 1
    • 34250558979 scopus 로고
    • Über eine eigenthümliche Form spastischer Lähmung mit Cerebral erscheinungen auf hereditärer Grundlage (Multiple Sklerose)
    • Pelizaeus F. Über eine eigenthümliche Form spastischer Lähmung mit Cerebral erscheinungen auf hereditärer Grundlage (Multiple Sklerose). Arch Psychiat Nervenkr 1885;16:698-710.
    • (1885) Arch Psychiat Nervenkr , vol.16 , pp. 698-710
    • Pelizaeus, F.1
  • 2
    • 52449138850 scopus 로고
    • Eine eigenartige familiäre Erkrankungsform (Aplasia axialis extracorticolis congenita)
    • Merzbacher L. Eine eigenartige familiäre Erkrankungsform (Aplasia axialis extracorticolis congenita). Z ges Neurol Psychiat 1910;3:1-138.
    • (1910) Z Ges Neurol Psychiat , vol.3 , pp. 1-138
    • Merzbacher, L.1
  • 3
    • 0001473673 scopus 로고
    • Pelizaeus-Merzbacher disease
    • Vinken PJ, Bruyn GW, editors. Amsterdam: North Holland
    • Seitelberger F. Pelizaeus-Merzbacher disease. In: Vinken PJ, Bruyn GW, editors. Handbook of clinical neurology. Vol. 10. Amsterdam: North Holland 1970;150-202.
    • (1970) Handbook of Clinical Neurology , vol.10 , pp. 150-202
    • Seitelberger, F.1
  • 4
    • 0023036672 scopus 로고
    • Pelizaeus-Merzbacher disease: Clinical and nosological study
    • Boulloche J, Aicardi J. Pelizaeus-Merzbacher disease: clinical and nosological study. J Child Neurol 1986;1:233-239.
    • (1986) J Child Neurol , vol.1 , pp. 233-239
    • Boulloche, J.1    Aicardi, J.2
  • 5
    • 0017167047 scopus 로고
    • Electrophysiologic observations in the classical form of Pelizaeus-Merzbacher disease
    • Wilkus RJ, Farrell D. Electrophysiologic observations in the classical form of Pelizaeus-Merzbacher disease. Neurology 1976; 26:1042-1045.
    • (1976) Neurology , vol.26 , pp. 1042-1045
    • Wilkus, R.J.1    Farrell, D.2
  • 6
    • 0027244402 scopus 로고
    • Visual evoked potential characteristics and early diagnosis of Pelizaeus-Merzbacher disease
    • Apkarian P, Koetsveld-Baart JC, Barth PG. Visual evoked potential characteristics and early diagnosis of Pelizaeus-Merzbacher disease. Arch Neurol 1993;50:981-985.
    • (1993) Arch Neurol , vol.50 , pp. 981-985
    • Apkarian, P.1    Koetsveld-Baart, J.C.2    Barth, P.G.3
  • 7
    • 0025670087 scopus 로고
    • Magnetic resonance imaging and computed tomography in Pelizaeus-Merzbacher disease
    • Caro PA, Marks HG. Magnetic resonance imaging and computed tomography in Pelizaeus-Merzbacher disease. Magn Reson Imag 1990;8:8128-8131.
    • (1990) Magn Reson Imag , vol.8 , pp. 8128-8131
    • Caro, P.A.1    Marks, H.G.2
  • 8
    • 0028245266 scopus 로고
    • MR diffusion imaging in Pelizaeus-Merzbacher disease
    • Ono J, Harada K, Sakurai K, et al. MR diffusion imaging in Pelizaeus-Merzbacher disease. Brain Dev 1994;16:219-223.
    • (1994) Brain Dev , vol.16 , pp. 219-223
    • Ono, J.1    Harada, K.2    Sakurai, K.3
  • 9
    • 0000029565 scopus 로고
    • Proteins of myelin
    • Morell P, editor. New York: Plenum Press
    • Lees M, Brostoff SL. Proteins of myelin. In: Morell P, editor. Myelin. 2nd ed. New York: Plenum Press 1984;197-224.
    • (1984) Myelin. 2nd Ed. , pp. 197-224
    • Lees, M.1    Brostoff, S.L.2
  • 10
    • 0022133330 scopus 로고
    • Nucleotide sequences of two mRNAs for rat brain myelin proteolipid protein
    • Milner RJ, Lai C, Nave K-A, Lenoir D, Ogata J, Sutcliffe JG. Nucleotide sequences of two mRNAs for rat brain myelin proteolipid protein. Cell 1985;42:931-939.
    • (1985) Cell , vol.42 , pp. 931-939
    • Milner, R.J.1    Lai, C.2    Nave, K.-A.3    Lenoir, D.4    Ogata, J.5    Sutcliffe, J.G.6
  • 11
    • 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 K-A, Lai C, Bloom FE, Milner RJ. 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 U S A 1987;84:5665-5669.
    • (1987) Proc Natl Acad Sci U S A , vol.84 , pp. 5665-5669
    • Nave, K.-A.1    Lai, C.2    Bloom, F.E.3    Milner, R.J.4
  • 12
    • 0026132370 scopus 로고
    • Major myelin proteolipid: The 4-a-helix topology
    • Popot JL, Pham-Dinh D, Dautigny A. Major myelin proteolipid: the 4-a-helix topology. J Membr Biol 1991;120:233-246.
    • (1991) J Membr Biol , vol.120 , pp. 233-246
    • Popot, J.L.1    Pham-Dinh, D.2    Dautigny, A.3
  • 13
    • 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. 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 1992;31:12289-12296.
    • (1992) Biochemistry , vol.31 , pp. 12289-12296
    • Weimbs, T.1    Stoffel, W.2
  • 14
    • 0024585529 scopus 로고
    • Myelination in the jimpy mouse in the absence of proteolipid protein
    • Duncan ID, Hammang JP, Goda S, Quarles RH. Myelination in the jimpy mouse in the absence of proteolipid protein. Glia 1989;2:148-154.
    • (1989) Glia , vol.2 , pp. 148-154
    • Duncan, I.D.1    Hammang, J.P.2    Goda, S.3    Quarles, R.H.4
  • 15
    • 0027986675 scopus 로고
    • Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice
    • Boisson D, Stoffel W. Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice. Proc Natl Acad Sci U S A 1994;91:11709-11713.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 11709-11713
    • Boisson, D.1    Stoffel, W.2
  • 16
    • 0023490577 scopus 로고
    • Myelin specific proteolipid protein is expressed in myelinating Schwann cells but not incorporated into myelin sheaths
    • Pucket C, Hudson L, Ono K, et al. Myelin specific proteolipid protein is expressed in myelinating Schwann cells but not incorporated into myelin sheaths. J Neurosci Res 1987;18:511-518.
    • (1987) J Neurosci Res , vol.18 , pp. 511-518
    • Pucket, C.1    Hudson, L.2    Ono, K.3
  • 17
    • 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. Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders. Science 1985;230:940-942.
    • (1985) Science , vol.230 , pp. 940-942
    • Willard, H.F.1    Riordan, J.R.2
  • 18
    • 0022543242 scopus 로고
    • The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome
    • Mattei MG, Alliel PM, Dautigny A, et al. The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome. Hum Genet 1986;72:352-353.
    • (1986) Hum Genet , vol.72 , pp. 352-353
    • Mattei, M.G.1    Alliel, P.M.2    Dautigny, A.3
  • 19
    • 0023493525 scopus 로고
    • An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region
    • Cremers FPM, Pfeiffer R, van de Pol TJR, et al. An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region. Hum Genet 1987;77:23-27.
    • (1987) Hum Genet , vol.77 , pp. 23-27
    • Cremers, F.P.M.1    Pfeiffer, R.2    Van De Pol, T.J.R.3
  • 20
    • 0022860245 scopus 로고
    • Individual exons encode the integral membrane domains of human myelin proteolipid protein
    • Diehl H-J, Schaich M, Dudzinski R-M, Stoffel W. Individual exons encode the integral membrane domains of human myelin proteolipid protein. Proc Natl Acad Sci U S A 1986;83: 9807-9811.
    • (1986) Proc Natl Acad Sci U S A , vol.83 , pp. 9807-9811
    • Diehl, H.-J.1    Schaich, M.2    Dudzinski, R.-M.3    Stoffel, W.4
  • 22
    • 0026500009 scopus 로고
    • DM-20 mRNA is expressed during the embryonic development of the nervous system of the mouse
    • Timsit SG, Bally-Cuif L, Colman DR, Zalc B. DM-20 mRNA is expressed during the embryonic development of the nervous system of the mouse. J Neurochem 1992;58:1172-1175.
    • (1992) J Neurochem , vol.58 , pp. 1172-1175
    • Timsit, S.G.1    Bally-Cuif, L.2    Colman, D.R.3    Zalc, B.4
  • 23
    • 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. Selective expression of DM-20, an alternatively spliced myelin proteolipid protein gene product, in developing nervous system and in nonglial cells. J Neurochem 1992;58:2248-2253.
    • (1992) J Neurochem , vol.58 , pp. 2248-2253
    • Ikenaka, K.1    Kagawa, T.2    Mikoshiba, K.3
  • 24
    • 0027487979 scopus 로고
    • A myelin proteolipid-lacZ, fusion protein is developmentally regulated and targeted to the myelin membrane in transgenic mice
    • Wight PA, Duchala CS, Readhead C, Macklin WB. A myelin proteolipid-lacZ, fusion protein is developmentally regulated and targeted to the myelin membrane in transgenic mice. J Cell Biol 1993;123:443-454.
    • (1993) J Cell Biol , vol.123 , pp. 443-454
    • Wight, P.A.1    Duchala, C.S.2    Readhead, C.3    Macklin, W.B.4
  • 25
    • 0028325902 scopus 로고
    • Premature arrest of myelin formation in transgenic mice with increased proteolipoprotein gene dosage
    • Readhead C, Schneider A, Griffiths I, Nave K-A. Premature arrest of myelin formation in transgenic mice with increased proteolipoprotein gene dosage. Neuron 1994;12:583-595.
    • (1994) Neuron , vol.12 , pp. 583-595
    • Readhead, C.1    Schneider, A.2    Griffiths, I.3    Nave, K.-A.4
  • 26
    • 0028017717 scopus 로고
    • A combination of PLP and DM-20 transgenes promotes partial myelination in the jimpy mouse
    • Nadon NL, Arnheiter H, Hudson LD. A combination of PLP and DM-20 transgenes promotes partial myelination in the jimpy mouse. J Neurochem 1994;63:822-833.
    • (1994) J Neurochem , vol.63 , pp. 822-833
    • Nadon, N.L.1    Arnheiter, H.2    Hudson, L.D.3
  • 27
    • 0028133486 scopus 로고
    • Glial cell degeneration and hypomyelination caused by overexpression of the myelin proteolipid protein gene
    • Kagawa T, Ikenaka K, Inoue Y, et al. Glial cell degeneration and hypomyelination caused by overexpression of the myelin proteolipid protein gene. Neuron 1994;13:427-442.
    • (1994) Neuron , vol.13 , pp. 427-442
    • Kagawa, T.1    Ikenaka, K.2    Inoue, Y.3
  • 28
    • 0027443880 scopus 로고
    • Molecular cloning of M6: Identification of a PLP/DM-20 gene family
    • Yan Y, Lagenaur C, Narayanan V. Molecular cloning of M6: identification of a PLP/DM-20 gene family. Neuron 1993;11:423-431.
    • (1993) Neuron , vol.11 , pp. 423-431
    • Yan, Y.1    Lagenaur, C.2    Narayanan, V.3
  • 29
    • 0027424792 scopus 로고
    • A proteolipid protein gene family: Expression in sharks and rays and possible evolution from an ancestral gene encoding a pore-forming polypeptides
    • Kitagawa K, Sinoway MP, Yang C, Gould RM, Colman DR. A proteolipid protein gene family: expression in sharks and rays and possible evolution from an ancestral gene encoding a pore-forming polypeptides. Neuron 1993;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
  • 30
    • 0028122616 scopus 로고
    • Neurological mouse mutants and genes of myelin
    • Nave K-A. Neurological mouse mutants and genes of myelin. J Neurosci Res 1994;38:607-612.
    • (1994) J Neurosci Res , vol.38 , pp. 607-612
    • Nave, K.-A.1
  • 31
    • 37049231008 scopus 로고
    • Mutant mice (quaking and jimpy) with deficient myelination in the central nervous system
    • Sidman RL, Dickie, MM, Appel SH. Mutant mice (quaking and jimpy) with deficient myelination in the central nervous system. Science 1964;144:309-311.
    • (1964) Science , vol.144 , pp. 309-311
    • Sidman, R.L.1    Dickie, M.M.2    Appel, S.H.3
  • 32
    • 0024430148 scopus 로고
    • Myelin-deficient rat: A point mutation in exon III (A→C, Thr75→Pro) of the myelin proteolipid protein causes dysmyelination and oligodendrocyte death
    • Boison D, Stoffel W. Myelin-deficient rat: a point mutation in exon III (A→C, Thr75→Pro) of the myelin proteolipid protein causes dysmyelination and oligodendrocyte death. EMBO J 1989;8:3295-3302.
    • (1989) EMBO J , vol.8 , pp. 3295-3302
    • Boison, D.1    Stoffel, W.2
  • 33
    • 0025155194 scopus 로고
    • A point mutation in the proteolipid protein gene of the 'shaking pup' interrupts oligodendrocyte development
    • Nadon NL, Duncan ID, Hudson LD. A point mutation in the proteolipid protein gene of the 'shaking pup' interrupts oligodendrocyte development. Development 1990;110:529-537.
    • (1990) Development , vol.110 , pp. 529-537
    • Nadon, N.L.1    Duncan, I.D.2    Hudson, L.D.3
  • 34
    • 0024543355 scopus 로고
    • Spinal cord lesions block seizures or delay their onset in myelin-defident rats: Evidence that generalized tonic seizures can be triggered by abnormal spinal cord activity
    • Rosenbluth J, Hasegawa M. Spinal cord lesions block seizures or delay their onset in myelin-defident rats: evidence that generalized tonic seizures can be triggered by abnormal spinal cord activity. Exp Neurol 1989;103:154-157.
    • (1989) Exp Neurol , vol.103 , pp. 154-157
    • Rosenbluth, J.1    Hasegawa, M.2
  • 35
    • 0024435640 scopus 로고
    • Extracellular potassium activity and axonal conduction in spinal cord of the myelin-deficient mutant rat
    • Young W, Rosenbluth J, Wojak JC, Sakatani K. Extracellular potassium activity and axonal conduction in spinal cord of the myelin-deficient mutant rat. Exp Neurol 1989;106:41-51.
    • (1989) Exp Neurol , vol.106 , pp. 41-51
    • Young, W.1    Rosenbluth, J.2    Wojak, J.C.3    Sakatani, K.4
  • 36
    • 0026650877 scopus 로고
    • Conduction properties of spinal cord axons in the myelin-deficient rat mutant
    • Utzschneider D, Black JA, Kocsis JD. Conduction properties of spinal cord axons in the myelin-deficient rat mutant. Neuroscience 1992;49, 221-228.
    • (1992) Neuroscience , vol.49 , pp. 221-228
    • Utzschneider, D.1    Black, J.A.2    Kocsis, J.D.3
  • 37
    • 0026767888 scopus 로고
    • Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene
    • Schneider A, Montague P, Griffiths IR, et al. Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene. Nature 1992;358:758-761.
    • (1992) Nature , vol.358 , pp. 758-761
    • Schneider, A.1    Montague, P.2    Griffiths, I.R.3
  • 38
    • 0002397825 scopus 로고
    • A sex-linked recessive form of spastic paraplegia
    • Johnston AW, MacKusick VA. A sex-linked recessive form of spastic paraplegia. Am J Hum Genet 1962;14:83-94.
    • (1962) Am J Hum Genet , vol.14 , pp. 83-94
    • Johnston, A.W.1    MacKusick, V.A.2
  • 39
    • 0028236505 scopus 로고
    • The rumpshaker mutation in spastic paraplegia
    • Kobayashi H, Hoffman E, Marks H. The rumpshaker mutation in spastic paraplegia. Nat Genet 1994;7:351-352.
    • (1994) Nat Genet , vol.7 , pp. 351-352
    • Kobayashi, H.1    Hoffman, E.2    Marks, H.3
  • 40
    • 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. Paralytic tremor (pt): a new allele of the proteolipid protein gene in rabbits. J Neurochem 1994;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
  • 41
    • 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. Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. Am J Med Genet 1991;49:1355-1360.
    • (1991) Am J Med Genet , vol.49 , pp. 1355-1360
    • Raskind, W.H.1    Williams, C.A.2    Hudson, L.D.3    Bird, T.D.4
  • 42
    • 0022889377 scopus 로고
    • jimpy mutant mouse: A 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in RNA splicing
    • Nave K-A, Lai C, Bloom FE, Milner RJ. jimpy mutant mouse: a 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in RNA splicing. Proc Natl Acad Sci U S A 1986;83:9264-9268.
    • (1986) Proc Natl Acad Sci U S A , vol.83 , pp. 9264-9268
    • Nave, K.-A.1    Lai, C.2    Bloom, F.E.3    Milner, R.J.4
  • 45
    • 0022540450 scopus 로고
    • Oligodendroglial cell death in jimpy mice: An explanation for the myelin deficit
    • Knapp PE, Skoff RP, Redstone DW. Oligodendroglial cell death in jimpy mice: an explanation for the myelin deficit. J Neurosci 1986;6:2813-2822.
    • (1986) J Neurosci , vol.6 , pp. 2813-2822
    • Knapp, P.E.1    Skoff, R.P.2    Redstone, D.W.3
  • 46
    • 0025204596 scopus 로고
    • Death of individual oligodendrocytes in jimpy brain precedes expression of proteolipid protein
    • Vermeesch MK, Knapp PE, Skoff RP, Studzinski DM, Benjamins, JA. Death of individual oligodendrocytes in jimpy brain precedes expression of proteolipid protein. Dev Neurosci 1990;12:303-315.
    • (1990) Dev Neurosci , vol.12 , pp. 303-315
    • Vermeesch, M.K.1    Knapp, P.E.2    Skoff, R.P.3    Studzinski, D.M.4    Benjamins, J.A.5
  • 47
    • 0019979626 scopus 로고
    • Increased proliferation of oligodendrocytes in the hypomyelinated mouse mutant-jimpy
    • Skoff RP. Increased proliferation of oligodendrocytes in the hypomyelinated mouse mutant-jimpy. Brain Res 1982;248:19-31.
    • (1982) Brain Res , vol.248 , pp. 19-31
    • Skoff, R.P.1
  • 48
    • 0023241526 scopus 로고
    • A defect in the cell cycle of neuroglia in the myelin deficient jimpy mouse
    • Knapp PE, Skoff RP. A defect in the cell cycle of neuroglia in the myelin deficient jimpy mouse. Dev Brain Res 1987;35:301-306.
    • (1987) Dev Brain Res , vol.35 , pp. 301-306
    • Knapp, P.E.1    Skoff, R.P.2
  • 50
    • 0027992133 scopus 로고
    • Contribution of transplantations to the understanding of the role of the PLP gene
    • Lachapelle F, Gumpel M, Baumann N. Contribution of transplantations to the understanding of the role of the PLP gene. Neurochem Res 1994;19:1083-1090.
    • (1994) Neurochem Res , vol.19 , pp. 1083-1090
    • Lachapelle, F.1    Gumpel, M.2    Baumann, N.3
  • 51
    • 0024234379 scopus 로고
    • Glial conditioned medium enables jimpy oligodendrocytes to express properties of normal oligodendrocytes: Production of myelin antigens and membranes
    • Bartlett WP, Knapp PE, Skoff RP. Glial conditioned medium enables jimpy oligodendrocytes to express properties of normal oligodendrocytes: production of myelin antigens and membranes. Glia 1988;1:253-259.
    • (1988) Glia , vol.1 , pp. 253-259
    • Bartlett, W.P.1    Knapp, P.E.2    Skoff, R.P.3
  • 52
    • 0028226949 scopus 로고
    • Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport
    • Gow A, Friedrich VL, Lazzarini RA. Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport. J Neurosci Res 1994;37:574-583.
    • (1994) J Neurosci Res , vol.37 , pp. 574-583
    • Gow, A.1    Friedrich, V.L.2    Lazzarini, R.A.3
  • 53
    • 3042909761 scopus 로고
    • Dominant-negative action of mutations in the PLP/DM-20 gene and direct interaction of PLP polypeptides in vivo
    • Jung M, Schneider A, Nave KA. Dominant-negative action of mutations in the PLP/DM-20 gene and direct interaction of PLP polypeptides in vivo. J Neurochem 1995;64:5101.
    • (1995) J Neurochem , vol.64 , pp. 5101
    • Jung, M.1    Schneider, A.2    Nave, K.A.3
  • 54
    • 0029079396 scopus 로고
    • Dominant-negative action of the jimpy mutation in mice complemented with an autosomal transgene for myelin proteolipid protein
    • Schneider A, Griffiths IR, Readhead C, Nave K-A. Dominant-negative action of the jimpy mutation in mice complemented with an autosomal transgene for myelin proteolipid protein. Proc Natl Acad Sci U S A 1995;92:4447-4451.
    • (1995) Proc Natl Acad Sci U S A , vol.92 , pp. 4447-4451
    • Schneider, A.1    Griffiths, I.R.2    Readhead, C.3    Nave, K.-A.4
  • 55
    • 0028893387 scopus 로고
    • Over-expression of the DM-20 myelin proteolipid causes central nervous system demyelination in transgenic mice
    • Simons-Johnson R, Roder JC, Riordan JR. Over-expression of the DM-20 myelin proteolipid causes central nervous system demyelination in transgenic mice. J Neurochem 1995;64:967-976.
    • (1995) J Neurochem , vol.64 , pp. 967-976
    • Simons-Johnson, R.1    Roder, J.C.2    Riordan, J.R.3
  • 57
    • 0023153460 scopus 로고
    • Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacber disease
    • Koeppen AH, Ronca NA, Greenfield EA, Hans MB. Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacber disease. Ann Neurol 1987;21:159-170.
    • (1987) Ann Neurol , vol.21 , pp. 159-170
    • Koeppen, A.H.1    Ronca, N.A.2    Greenfield, E.A.3    Hans, M.B.4
  • 58
    • 0027523067 scopus 로고
    • Pelizaeus-Merzbacher disease: A frameshift deletion/insertion event in the myelin proteolipid gene
    • Pham-Dinh D, Boespflug-Tanguy O, Mimault C, et al. Pelizaeus-Merzbacher disease: a frameshift deletion/insertion event in the myelin proteolipid gene. Hum Mol Genet 1993;4:465-467.
    • (1993) Hum Mol Genet , vol.4 , pp. 465-467
    • Pham-Dinh, D.1    Boespflug-Tanguy, O.2    Mimault, C.3
  • 60
    • 3042991804 scopus 로고
    • The role of proteolipid protein in gene mutations in Pelizaeus-Merzbacher disease
    • Bridge PJ, Wilkins PJ. The role of proteolipid protein in gene mutations in Pelizaeus-Merzbacher disease. Am J Hum Genet 1992;209:823.
    • (1992) Am J Hum Genet , vol.209 , pp. 823
    • Bridge, P.J.1    Wilkins, P.J.2
  • 61
    • 0028240173 scopus 로고
    • Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease
    • Ellis D, Malcom S. Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease. Nat Genet 1994;6:333-334.
    • (1994) Nat Genet , vol.6 , pp. 333-334
    • Ellis, D.1    Malcom, S.2
  • 62
  • 63
    • 0024330420 scopus 로고
    • Mutation of the proteolipid protein gene (PLP) in a human X chromosome-linked disorder
    • Hudson LD, Puckett C, Berndt J, Chan J, Gencic S. Mutation of the proteolipid protein gene (PLP) in a human X chromosome-linked disorder. Proc Natl Acad Sci USA 1989;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
  • 64
    • 0028142316 scopus 로고
    • Genetic homogeneity of Pelizaeus-Merzbacher Disease (PMD): Tight linkage to the proteolipoprotein (PLP) locus in 16 affected families
    • Boespflug-Tanguy O, Mimault C, Melki J, et al. Genetic homogeneity of Pelizaeus-Merzbacher Disease (PMD): tight linkage to the proteolipoprotein (PLP) locus in 16 affected families Am J Hum Genet 1994;55:461-467.
    • (1994) Am J Hum Genet , vol.55 , pp. 461-467
    • Boespflug-Tanguy, O.1    Mimault, C.2    Melki, J.3
  • 65
    • 0028241952 scopus 로고
    • X-linked spastic paraplegia (SPG1), Masa syndrome and X-linked hydrocephalus result from mutations in the L1. gene
    • Jouet M, Rosenthal A, Armstrong G, et al. X-linked spastic paraplegia (SPG1), Masa syndrome and X-linked hydrocephalus result from mutations in the L1. gene. Nat Genet 1994;7:402-407.
    • (1994) Nat Genet , vol.7 , pp. 402-407
    • Jouet, M.1    Rosenthal, A.2    Armstrong, G.3
  • 66
    • 0028239867 scopus 로고
    • X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
    • Saugier-Veber P, Munnich A, Bonneau D, et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet 1994;6:257-261.
    • (1994) Nat Genet , vol.6 , pp. 257-261
    • Saugier-Veber, P.1    Munnich, A.2    Bonneau, D.3
  • 69
    • 0026736138 scopus 로고
    • Molecular diagnostics for myelin proteolipid gene mutations in Pelizaeus-Merzbacher disease
    • Doll R, Natowicz MR, Schiffmann R, Smith FI. Molecular diagnostics for myelin proteolipid gene mutations in Pelizaeus-Merzbacher disease. Am J Hum Genet 1992;51:161-169.
    • (1992) Am J Hum Genet , vol.51 , pp. 161-169
    • Doll, R.1    Natowicz, M.R.2    Schiffmann, R.3    Smith, F.I.4
  • 70
    • 3042914875 scopus 로고
    • Adult onset neurological disorder in Pelizaeus-Merzbacher disease carrier mother
    • Nance MA, Pratt VM, Boyadjiev S, Hodes ME. Adult onset neurological disorder in Pelizaeus-Merzbacher disease carrier mother. Abstract. Am J Hum Genet 1993;53:1745.
    • (1993) Am J Hum Genet , vol.53 , pp. 1745
    • Nance, M.A.1    Pratt, V.M.2    Boyadjiev, S.3    Hodes, M.E.4
  • 71
    • 0028859889 scopus 로고
    • A novel mutation in exon 3. of the proteolipid protein gene in Pelizaeus-Merzbacher disease
    • Pratt VM, Naidu S, Dlouhy SR, Marks HG, Hodes ME. A novel mutation in exon 3. of the proteolipid protein gene in Pelizaeus-Merzbacher disease. Neurology 1995a;45:394-395.
    • (1995) Neurology , vol.45 , pp. 394-395
    • Pratt, V.M.1    Naidu, S.2    Dlouhy, S.R.3    Marks, H.G.4    Hodes, M.E.5
  • 72
    • 0025608178 scopus 로고
    • A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis
    • Weimbs T, Dick T, Stoffel W, Boltshauser E. A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis. Biol Chem Hoppe Seyler 1990;371:1175-1183.
    • (1990) Biol Chem Hoppe Seyler , vol.371 , pp. 1175-1183
    • Weimbs, T.1    Dick, T.2    Stoffel, W.3    Boltshauser, E.4
  • 73
    • 0027454286 scopus 로고
    • Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred
    • Pratt VM, Kiefer JR, Lähdetie J, Schleutker J, Hodes ME, Dlouhy SR. Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred. Am J Med Genet 1993;52:1053-1056.
    • (1993) Am J Med Genet , vol.52 , pp. 1053-1056
    • Pratt, V.M.1    Kiefer, J.R.2    Lähdetie, J.3    Schleutker, J.4    Hodes, M.E.5    Dlouhy, S.R.6
  • 75
    • 3042946860 scopus 로고
    • 206-Cys mutation in the proteolipid protein causes Pelizaeus-Merzbacher disease
    • 206-Cys mutation in the proteolipid protein causes Pelizaeus-Merzbacher disease. Am J Hum Genet 1991;972:183.
    • (1991) Am J Hum Genet , vol.972 , pp. 183
    • Bridge, P.J.1    D'Souza, C.R.2    Van Oost, B.A.3
  • 76
    • 0024419974 scopus 로고
    • Pelizaeus-Merzbacher disease: An X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein
    • Gencic S, Abuelo D, Ambler M, Hudson LD. Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. Am J Hum Genet 1989;45:435-442.
    • (1989) Am J Hum Genet , vol.45 , pp. 435-442
    • Gencic, S.1    Abuelo, D.2    Ambler, M.3    Hudson, L.D.4
  • 77
    • 0028954678 scopus 로고
    • Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5. of the proteolipid protein gene
    • Pratt VM, Boyadjiev S, Dlouhy SR, Silver K, DerKaloustian VM, Hodes ME. Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5. of the proteolipid protein gene. Am J Med Genet 1995b;55:402-404.
    • (1995) Am J Med Genet , vol.55 , pp. 402-404
    • Pratt, V.M.1    Boyadjiev, S.2    Dlouhy, S.R.3    Silver, K.4    DerKaloustian, V.M.5    Hodes, M.E.6
  • 78
    • 0025745185 scopus 로고
    • Pelizaeus-Merzbacher disease: A valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid
    • Pham-Dinh D, Popot JL, Boespflug-Tanguy O, et al. Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid. Proc Natl Acad Sci U S A 1991b;88:7562-7566.
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 7562-7566
    • Pham-Dinh, D.1    Popot, J.L.2    Boespflug-Tanguy, O.3
  • 79
    • 0027394845 scopus 로고
    • A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family
    • Iwaki A, Muramoto T, Iwaki T, et al. A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family. Hum Mol Genet 1993;2:19-22.
    • (1993) Hum Mol Genet , vol.2 , pp. 19-22
    • Iwaki, A.1    Muramoto, T.2    Iwaki, T.3
  • 80
    • 0027762661 scopus 로고
    • A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease
    • Kurosawa K, Iwaki A, Miyake S, Imaizumi K, Kuroki Y, Fukumaki Y. A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease. Hum Mol Genet 1993;2:2187-2189.
    • (1993) Hum Mol Genet , vol.2 , pp. 2187-2189
    • Kurosawa, K.1    Iwaki, A.2    Miyake, S.3    Imaizumi, K.4    Kuroki, Y.5    Fukumaki, Y.6


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