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Volumn 15, Issue 4, 1999, Pages 125-128

Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; MYELIN PROTEIN; PROTEOLIPID PROTEIN;

EID: 0032917262     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-9525(99)01716-3     Document Type: Short Survey
Times cited : (31)

References (31)
  • 1
    • 52449138850 scopus 로고
    • Eine eigenartige familiäre-hereditäre Erkrankungsform (Aplasia axialis extracorticalis congenita)
    • L. Merzbacher Eine eigenartige familiäre-hereditäre Erkrankungsform (Aplasia axialis extracorticalis congenita) Z. Ges. Neurol. Psychiatr. 3 1910 1 138
    • (1910) Z. Ges. Neurol. Psychiatr. , vol.3 , pp. 1-138
    • Merzbacher, L.1
  • 2
    • 85119806827 scopus 로고    scopus 로고
    • Seitelberger, F. (1970) Pelizaeus–Merzbacher disease, in Handbook of Clinical Neurology . Leucodystrophies and Poliodystrophies (Vol. 42) (Vinken, P.J. and Bruyn, G.W., eds), 150–202, North-Holland
  • 3
    • 0028239867 scopus 로고
    • X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
    • P. Saugier-Veber X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus Nat. Genet. 6 1994 257 262
    • (1994) Nat. Genet. , vol.6 , pp. 257-262
    • Saugier-Veber, P.1
  • 4
    • 0031892597 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease: lessons in genetic mechanisms
    • J.R. Lupski Charcot-Marie-Tooth disease: lessons in genetic mechanisms Mol. Med. 4 1998 3 10
    • (1998) Mol. Med. , vol.4 , pp. 3-10
    • Lupski, J.R.1
  • 5
    • 0028240173 scopus 로고
    • Proteolipid protein gene dosage effect in Pelizaeus–Merzbacher disease
    • D. Ellis S. Malcolm Proteolipid protein gene dosage effect in Pelizaeus–Merzbacher disease Nat. Genet. 6 1994 333 334
    • (1994) Nat. Genet. , vol.6 , pp. 333-334
    • Ellis, D.1    Malcolm, S.2
  • 6
    • 0032231957 scopus 로고    scopus 로고
    • Pelizaeus–Merzbacher disease: identification of Xq22 proteolipid protein duplications and characterization of breakpoints by interphase FISH
    • K. Woodward Pelizaeus–Merzbacher disease: identification of Xq22 proteolipid protein duplications and characterization of breakpoints by interphase FISH Am. J. Hum. Genet. 63 1998 207 217
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 207-217
    • Woodward, K.1
  • 7
    • 0031801082 scopus 로고    scopus 로고
    • Duplication of the proteolipid protein gene is the major cause of Pelizaeus–Merzbacher disease
    • E.A. Sistermans Duplication of the proteolipid protein gene is the major cause of Pelizaeus–Merzbacher disease Neurology 50 1998 1749 1754
    • (1998) Neurology , vol.50 , pp. 1749-1754
    • Sistermans, E.A.1
  • 8
    • 0028133486 scopus 로고
    • Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene
    • T. Kagawa Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene Neuron 13 1994 427 442
    • (1994) Neuron , vol.13 , pp. 427-442
    • Kagawa, T.1
  • 9
    • 0028325902 scopus 로고
    • Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage
    • C. Readhead Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage Neuron 12 1994 583 595
    • (1994) Neuron , vol.12 , pp. 583-595
    • Readhead, C.1
  • 10
    • 0029155690 scopus 로고
    • Overexpression of DM20 messenger RNA in two brothers with Pelizaeus–Merzbacher disease
    • P. Carango Overexpression of DM20 messenger RNA in two brothers with Pelizaeus–Merzbacher disease Ann. Neurol. 38 1995 610 617
    • (1995) Ann. Neurol. , vol.38 , pp. 610-617
    • Carango, P.1
  • 11
    • 0030176138 scopus 로고    scopus 로고
    • Cell death of oligodendrocytes or demyelination induced by overexpression of proteolipid protein depending on expressed gene dosage
    • Y. Inoue Cell death of oligodendrocytes or demyelination induced by overexpression of proteolipid protein depending on expressed gene dosage Neurosci. Res. 25 1996 161 172
    • (1996) Neurosci. Res. , vol.25 , pp. 161-172
    • Inoue, Y.1
  • 12
    • 0028893387 scopus 로고
    • Over-expression of the DM-20 myelin proteolipid causes central nervous system demyelination in transgenic mice
    • R.S. Johnson Over-expression of the DM-20 myelin proteolipid causes central nervous system demyelination in transgenic mice J. Neurochem. 64 1995 967 976
    • (1995) J. Neurochem. , vol.64 , pp. 967-976
    • Johnson, R.S.1
  • 13
    • 0032543261 scopus 로고    scopus 로고
    • Late-onset neurodegeneration in mice with increased dosage of the proteolipid protein gene
    • T.J. Anderson Late-onset neurodegeneration in mice with increased dosage of the proteolipid protein gene J. Comp. Neurol. 394 1998 506 519
    • (1998) J. Comp. Neurol. , vol.394 , pp. 506-519
    • Anderson, T.J.1
  • 14
    • 0032559544 scopus 로고    scopus 로고
    • Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus–Merzbacher disease
    • A. Gow Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus–Merzbacher disease J. Cell Biol. 140 1998 925 934
    • (1998) J. Cell Biol. , vol.140 , pp. 925-934
    • Gow, A.1
  • 15
    • 85119803267 scopus 로고    scopus 로고
    • T.J. Anderson, et al., Distinct phenotypes associated with increasing dosage of the PLP gene: implications for CMT1A due to PMP22 gene duplication, Ann. New York Acad. Sci. (in press).
  • 16
    • 0027759985 scopus 로고
    • Genetics of Pelizaeus–Merzbacher disease
    • M.E. Hodes Genetics of Pelizaeus–Merzbacher disease Dev. Neurosci. 15 1993 383 394
    • (1993) Dev. Neurosci. , vol.15 , pp. 383-394
    • Hodes, M.E.1
  • 17
    • 0028226949 scopus 로고
    • Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport
    • A. Gow Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport J. Neurosci. Res. 37 1994 574 578
    • (1994) J. Neurosci. Res. , vol.37 , pp. 574-578
    • Gow, A.1
  • 18
    • 0030036917 scopus 로고    scopus 로고
    • A cellular mechanism governing the severity of Pelizaeus–Merzbacher disease
    • A. Gow R.A. Lazzarini A cellular mechanism governing the severity of Pelizaeus–Merzbacher disease Nat. Genet. 13 1996 422 428
    • (1996) Nat. Genet. , vol.13 , pp. 422-428
    • Gow, A.1    Lazzarini, R.A.2
  • 19
    • 0031214489 scopus 로고    scopus 로고
    • Phenotypic severity of murine Plp mutants reflects in vivo and in vitro variations in transport of PLP isoproteins
    • C.E. Thomson Phenotypic severity of murine Plp mutants reflects in vivo and in vitro variations in transport of PLP isoproteins Glia 20 1998 322 332
    • (1998) Glia , vol.20 , pp. 322-332
    • Thomson, C.E.1
  • 20
    • 0028236505 scopus 로고
    • The rumpshaker mutation in spastic paraplegia
    • H. Kobayashi The rumpshaker mutation in spastic paraplegia Nat. Genet. 7 1994 351 352
    • (1994) Nat. Genet. , vol.7 , pp. 351-352
    • Kobayashi, H.1
  • 21
    • 0032477642 scopus 로고    scopus 로고
    • Jimpy (msd) mouse mutation and connatal Pelizaeus–Merzbacher disease
    • T. Yamamoto Jimpy ( msd ) mouse mutation and connatal Pelizaeus–Merzbacher disease Am. J. Med. Genet. 75 1998 439 440
    • (1998) Am. J. Med. Genet. , vol.75 , pp. 439-440
    • Yamamoto, T.1
  • 22
    • 0028017717 scopus 로고
    • A combination of PLP and DM20 transgenes promotes partial myelination in the jimpy mouse
    • N.L. Nadon A combination of PLP and DM20 transgenes promotes partial myelination in the jimpy mouse J. Neurochem. 63 1994 822 833
    • (1994) J. Neurochem. , vol.63 , pp. 822-833
    • Nadon, N.L.1
  • 23
    • 0026348463 scopus 로고
    • Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus–Merzbacher disease
    • W.H. Raskind Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus–Merzbacher disease Am. J. Hum. Genet. 49 1991 1355 1360
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 1355-1360
    • Raskind, W.H.1
  • 24
    • 0030020210 scopus 로고    scopus 로고
    • A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus–Merzbacher disease in a Dutch family
    • E.A. Sistermans A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus–Merzbacher disease in a Dutch family Hum. Genet. 97 1996 337 339
    • (1996) Hum. Genet. , vol.97 , pp. 337-339
    • Sistermans, E.A.1
  • 25
    • 0030769418 scopus 로고    scopus 로고
    • Proteolipid protein is necessary in peripheral as well as central myelin
    • J.Y. Garbern Proteolipid protein is necessary in peripheral as well as central myelin Neuron 19 1997 205 218
    • (1997) Neuron , vol.19 , pp. 205-218
    • Garbern, J.Y.1
  • 26
    • 0027986675 scopus 로고
    • Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice
    • D. Boison W. Stoffel 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. 91 1994 11709 11713
    • (1994) Proc. Natl. Acad. Sci. U. S. A. , vol.91 , pp. 11709-11713
    • Boison, D.1    Stoffel, W.2
  • 27
    • 0031037761 scopus 로고    scopus 로고
    • Assembly of CNS myelin in the absence of proteolipid protein
    • M. Klugmann Assembly of CNS myelin in the absence of proteolipid protein Neuron 18 1997 59 70
    • (1997) Neuron , vol.18 , pp. 59-70
    • Klugmann, M.1
  • 28
    • 0032486428 scopus 로고    scopus 로고
    • Axonal swellings and degeneration in mice lacking the major proteolipid of myelin
    • I. Griffiths Axonal swellings and degeneration in mice lacking the major proteolipid of myelin Science 280 1998 1610 1613
    • (1998) Science , vol.280 , pp. 1610-1613
    • Griffiths, I.1
  • 29
    • 0025155194 scopus 로고
    • A point mutation in the proteolipid protein gene of the ‘shaking pup’ interrupts oligodendrocyte development
    • N.L. Nadon A point mutation in the proteolipid protein gene of the ‘shaking pup’ interrupts oligodendrocyte development Development 110 1990 529 537
    • (1990) Development , vol.110 , pp. 529-537
    • Nadon, N.L.1
  • 30
    • 0027493037 scopus 로고
    • Paralytic tremor (pt) rabbit: a sex-linked mutation affecting proteolipid protein-gene expression
    • M. Tosic Paralytic tremor (pt) rabbit: a sex-linked mutation affecting proteolipid protein-gene expression Brain Res. 625 1993 307 312
    • (1993) Brain Res. , vol.625 , pp. 307-312
    • Tosic, M.1
  • 31
    • 0028848475 scopus 로고
    • Oligodendrocyte survival and function in the long-lived strain of the myelin deficient rat
    • I.D. Duncan Oligodendrocyte survival and function in the long-lived strain of the myelin deficient rat J. Neurocytol. 24 1995 745 762
    • (1995) J. Neurocytol. , vol.24 , pp. 745-762
    • Duncan, I.D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.