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Volumn 16, Issue 5, 1996, Pages 1049-1060

A transgenic rat model of Charcot-Marie-Tooth disease

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN PROTEIN; MYELIN PROTEIN 22; UNCLASSIFIED DRUG;

EID: 15844393894     PISSN: 08966273     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0896-6273(00)80128-2     Document Type: Article
Times cited : (328)

References (53)
  • 1
    • 0028784820 scopus 로고
    • Hypermyelination and demyelinating peripheral neuropathy in PMP-22-deficient mice
    • Adlkofer, K., Martini, R., Aguzzi, A., Zielasek, J., Toyka, K.V., and Suter, U. (1995). Hypermyelination and demyelinating peripheral neuropathy in PMP-22-deficient mice. Nature Genet. 11, 274-280.
    • (1995) Nature Genet. , vol.11 , pp. 274-280
    • Adlkofer, K.1    Martini, R.2    Aguzzi, A.3    Zielasek, J.4    Toyka, K.V.5    Suter, U.6
  • 2
    • 0029588323 scopus 로고
    • Widespread expression of the peripheral myelin protein-22 gene (PMP22) in the neural and non-neural tissues during murine development
    • Baechner, D., Liehr, T., Hameister, H., Altenberger, H., Grehl, H., Suter, U., and Rautenstrauss, B. (1995). Widespread expression of the peripheral myelin protein-22 gene (PMP22) in the neural and non-neural tissues during murine development. J. Neurosci. Res. 42, 735-741.
    • (1995) J. Neurosci. Res. , vol.42 , pp. 735-741
    • Baechner, D.1    Liehr, T.2    Hameister, H.3    Altenberger, H.4    Grehl, H.5    Suter, U.6    Rautenstrauss, B.7
  • 4
    • 0018381233 scopus 로고
    • Studies on cultured rat schwann cells. I. Establishment of purified populations from cultures of peripheral nerve
    • Brockes, J.P., Fields, K.L., and Raff, M.C. (1979). Studies on cultured rat Schwann cells. I. Establishment of purified populations from cultures of peripheral nerve. Brain Res. 165, 105-118.
    • (1979) Brain Res. , vol.165 , pp. 105-118
    • Brockes, J.P.1    Fields, K.L.2    Raff, M.C.3
  • 6
    • 0023277545 scopus 로고
    • Single-step method of RNA isolation byacid guanidinium thiocyanate-phenol-chloroform extraction
    • Chomczynski, P., and Sacchi, N. (1987). Single-step method of RNA isolation byacid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162, 156-159.
    • (1987) Anal. Biochem. , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 8
    • 0029159803 scopus 로고
    • Apoptotic phenotype induced by overexpression of wild-type gas3/ PMP22: Its relation to the demyelinating peripheral neuropathy CMT1A
    • Fabbretti, E., Edomi, P., Brancolini, C., and Schneider, C. (1995). Apoptotic phenotype induced by overexpression of wild-type gas3/ PMP22: its relation to the demyelinating peripheral neuropathy CMT1A. Genes Dev. 9, 1846-1856.
    • (1995) Genes Dev. , vol.9 , pp. 1846-1856
    • Fabbretti, E.1    Edomi, P.2    Brancolini, C.3    Schneider, C.4
  • 10
    • 0343925677 scopus 로고    scopus 로고
    • Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication
    • in press
    • Garcia, C.A., Malamut, R.E., England, J.D., Parry, G.S., Pentao, L., and Lupski, J.R. (1996). Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication. Neurology (in press).
    • (1996) Neurology
    • Garcia, C.A.1    Malamut, R.E.2    England, J.D.3    Parry, G.S.4    Pentao, L.5    Lupski, J.R.6
  • 13
    • 0001339037 scopus 로고
    • Molecular biology of myelin proteins in the centra I and peripheral nervous system
    • Hudson, L.D. (1990). Molecular biology of myelin proteins in the centra I and peripheral nervous system. Sem. Neurosci. 2, 483-496.
    • (1990) Sem. Neurosci. , vol.2 , pp. 483-496
    • Hudson, L.D.1
  • 14
    • 0028847995 scopus 로고
    • Charcot-Marie-Tooth neuropathies:From clinical description to molecular genetics
    • Ionasescu, V.V. (1995)Charcot-Marie-Tooth neuropathies:from clinical description to molecular genetics. Muscle Nerve 18, 257-275.
    • (1995) Muscle Nerve , vol.18 , pp. 257-275
    • Ionasescu, V.V.1
  • 15
    • 0028788494 scopus 로고
    • Dejerine-Sottas diseasewith de novo dominant point mutation of the PMP22 gene
    • Ionasescu, V.V., Ionasescu, R., Searby, C., and Neahring, R. (1995). Dejerine-Sottas diseasewith de novo dominant point mutation of the PMP22 gene. Neurology 45, 1766-1767.
    • (1995) Neurology , vol.45 , pp. 1766-1767
    • Ionasescu, V.V.1    Ionasescu, R.2    Searby, C.3    Neahring, R.4
  • 17
    • 0027518166 scopus 로고
    • Nerve conduction studies in Charcot-Marie-Tooth neuropathy associated with a segmental duplication of chromosome 17
    • Kaku, D.A., Parry, G.J., Malamut, R., Lupski, J.R., and Garcia, C.A. (1993). Nerve conduction studies in Charcot-Marie-Tooth neuropathy associated with a segmental duplication of chromosome 17. Neurology 43, 1806-1808.
    • (1993) Neurology , vol.43 , pp. 1806-1808
    • Kaku, D.A.1    Parry, G.J.2    Malamut, R.3    Lupski, J.R.4    Garcia, C.A.5
  • 18
    • 0028131358 scopus 로고
    • Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A
    • Kamholz, J., Shy, M., and Scherer, S. (1994). Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann. Neurol. 36, 451-452.
    • (1994) Ann. Neurol. , vol.36 , pp. 451-452
    • Kamholz, J.1    Shy, M.2    Scherer, S.3
  • 19
    • 0017147462 scopus 로고
    • Purification and partialcharacterization of two glycoproteins in bovine peripheral myelin membrane
    • Kitamura, K.M., Suzuki, M., and Uyemura, K. (1976). Purification and partialcharacterization of two glycoproteins in bovine peripheral myelin membrane. Biochim. Biophys. Acta 455, 806-816.
    • (1976) Biochim. Biophys. Acta , vol.455 , pp. 806-816
    • Kitamura, K.M.1    Suzuki, M.2    Uyemura, K.3
  • 20
    • 0024074053 scopus 로고
    • Unwrapping the genes of myelin
    • Lemke, G. (1988). Unwrapping the genes of myelin. Neuron 1, 535-543.
    • (1988) Neuron , vol.1 , pp. 535-543
    • Lemke, G.1
  • 21
    • 0021849731 scopus 로고
    • Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin
    • Lemke, G., and Axel, R. (1985). Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin. Cell 40, 501-508.
    • (1985) Cell , vol.40 , pp. 501-508
    • Lemke, G.1    Axel, R.2
  • 23
    • 0027366552 scopus 로고
    • Inherited primary peripheral neuropathies
    • Lupski, J.R., Chance, P.P., and Garcia, C.A. (1993). Inherited primary peripheral neuropathies. JAMA 270, 2326-2330.
    • (1993) JAMA , vol.270 , pp. 2326-2330
    • Lupski, J.R.1    Chance, P.P.2    Garcia, C.A.3
  • 27
    • 0005215435 scopus 로고
    • Neurological mouse mutants: A molecular genetic analysis of myelin proteins
    • H. Kettenmann and B. Ransom, eds. (New York: Oxford University Press)
    • Nave, K.-A. (1995). Neurological mouse mutants: a molecular genetic analysis of myelin proteins. In Neuroglial Cells, H. Kettenmann and B. Ransom, eds. (New York: Oxford University Press) pp. 571-586.
    • (1995) Neuroglial Cells , pp. 571-586
    • Nave, K.-A.1
  • 28
    • 0002768920 scopus 로고    scopus 로고
    • Developmental defects of myelin formation: From X-linked mutationsto human dysmyelinating diseases
    • Nave, K.-A., and Boespflug-Tanguy, O. (1996). Developmental defects of myelin formation: from X-linked mutationsto human dysmyelinating diseases. Neuroscientist 2, 33-43.
    • (1996) Neuroscientist , vol.2 , pp. 33-43
    • Nave, K.-A.1    Boespflug-Tanguy, O.2
  • 29
    • 0025892749 scopus 로고
    • Penetrance of the hereditary motor and sensory neuropathy 1a mutation: Assessment by nerve conduction studies
    • Nicholson, G.A. (1991). Penetrance of the hereditary motor and sensory neuropathy 1a mutation: assessment by nerve conduction studies. Neurology 41, 547-552.
    • (1991) Neurology , vol.41 , pp. 547-552
    • Nicholson, G.A.1
  • 30
    • 0029075810 scopus 로고
    • Peripheral myelin protein-22 is expressed in rat and mouse brainand spinal cord motoneurons
    • Parmantier, E., Cabon, F., Braun, C., D'Urso, D., Mueller, H. W., and Zalc, B. (1995). Peripheral myelin protein-22 is expressed in rat and mouse brainand spinal cord motoneurons. Eur. J. Neurosci. 7.1080-1088.
    • (1995) Eur. J. Neurosci. , vol.7 , pp. 1080-1088
    • Parmantier, E.1    Cabon, F.2    Braun, C.3    D'Urso, D.4    Mueller, H.W.5    Zalc, B.6
  • 31
    • 0028231331 scopus 로고
    • Charcot-Marie-Tooth disease: A new paradigm for the mechanism of inherited disease
    • Patel, P.I., and Lupski, J.R. (1994). Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet. 10, 128-133.
    • (1994) Trends Genet. , vol.10 , pp. 128-133
    • Patel, P.I.1    Lupski, J.R.2
  • 34
    • 0028325902 scopus 로고
    • Premature arrest of myelin formation in transgenic mice with increased dosage of the proteolipid protein gene
    • Readhead, C., Schneider, A., Griffiths, I., and Nave, K.-A. (1994). Premature arrest of myelin formation in transgenic mice with increased dosage of the proteolipid protein gene. Neuron 12, 583-595.
    • (1994) Neuron , vol.12 , pp. 583-595
    • Readhead, C.1    Schneider, A.2    Griffiths, I.3    Nave, K.-A.4
  • 35
    • 0027486810 scopus 로고
    • Dejerine-sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
    • Roa, B.B., Dyck, P.J., Marks, H.G., Chance, P.F., and Lupski, J.R. (1993a). Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nature Genet. 5, 269-272.
    • (1993) Nature Genet. , vol.5 , pp. 269-272
    • Roa, B.B.1    Dyck, P.J.2    Marks, H.G.3    Chance, P.F.4    Lupski, J.R.5
  • 38
    • 0023765743 scopus 로고
    • Genes specifically expressed at growth arrest of mammalian cells
    • Schneider, C., King, R.M., and Phillipson, L. (1988). Genes specifically expressed at growth arrest of mammalian cells. Cell 54, 787-793.
    • (1988) Cell , vol.54 , pp. 787-793
    • Schneider, C.1    King, R.M.2    Phillipson, L.3
  • 39
    • 0016266593 scopus 로고
    • Genetic and clinical aspects of Charcot-Marie-Tooth's disease
    • Skre, H. (1974). Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin. Genet. 6, 98-118.
    • (1974) Clin. Genet. , vol.6 , pp. 98-118
    • Skre, H.1
  • 40
    • 0029014126 scopus 로고
    • Molecular anatomy and genetics of myelin proteins in the peripheral nervous system
    • Snipes, G.J., and Suter, U. (1995a). Molecular anatomy and genetics of myelin proteins in the peripheral nervous system. J. Anat. 186, 483-494.
    • (1995) J. Anat. , vol.186 , pp. 483-494
    • Snipes, G.J.1    Suter, U.2
  • 41
    • 0029093622 scopus 로고
    • Molecularbasisof common hereditary motor and sensory neuropathies in humans and in mouse models
    • Snipes, G.J., and Suter, U. (1995b). Molecularbasisof common hereditary motor and sensory neuropathies in humans and in mouse models. Brain Path. 5, 233-247.
    • (1995) Brain Path. , vol.5 , pp. 233-247
    • Snipes, G.J.1    Suter, U.2
  • 42
    • 0026519132 scopus 로고
    • Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)
    • Snipes, G.J., Suter U., Welcher, and A.A., Shooter, E.M. (1992). Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J. Cell. Biol. 117, 225-238.
    • (1992) J. Cell. Biol. , vol.117 , pp. 225-238
    • Snipes, G.J.1    Suter, U.2    Welcher, A.A.3    Shooter, E.M.4
  • 43
    • 0025942098 scopus 로고
    • Axon-regulated expression of a Schwann cell transcript that is homologous to a "growth arrest-specific" gene
    • Spreyer, P., Kuhn, G., Hanemann, C.O., Gillen, C., Schaal, H., Kuhn, R., Lemke, G., and Müller, H.W. (1991). Axon-regulated expression of a Schwann cell transcript that is homologous to a "growth arrest-specific" gene. EMBOJ. 10, 3661-3668.
    • (1991) EMBOJ , vol.10 , pp. 3661-3668
    • Spreyer, P.1    Kuhn, G.2    Hanemann, C.O.3    Gillen, C.4    Schaal, H.5    Kuhn, R.6    Lemke, G.7    Müller, H.W.8
  • 47
    • 0022423245 scopus 로고
    • Isolation and characterization of rat and human glyceraldehyde-3-phosphate dehydrogenase cDNAs: Genomic complexity and molecular evolution of the gene
    • Tso, J.Y., Sun, X.H., Kao, T.H., Reece, K.S., and Wu, R.(1985). Isolation and characterization of rat and human glyceraldehyde-3-phosphate dehydrogenase cDNAs: Genomic complexity and molecular evolution of the gene. Nucleic Acids Res. 13, 2485-2502.
    • (1985) Nucleic Acids Res. , vol.13 , pp. 2485-2502
    • Tso, J.Y.1    Sun, X.H.2    Kao, T.H.3    Reece, K.S.4    Wu, R.5
  • 51
    • 0027374931 scopus 로고
    • Molecularanalysesof unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication
    • Wise, C.A., Garcia, C.A., Davis, S.N., Heju, Z., Pentao, L., Patel, P.I., and Lupski, J.R. (1993). Molecularanalysesof unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am. J. Hum. Genet. 53, 853-863
    • (1993) Am. J. Hum. Genet. , vol.53 , pp. 853-863
    • Wise, C.A.1    Garcia, C.A.2    Davis, S.N.3    Heju, Z.4    Pentao, L.5    Patel, P.I.6    Lupski, J.R.7
  • 52
    • 0028221758 scopus 로고
    • Elevatedexpression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A
    • Yoshikawa, H., Nishimura T., Nakatsuji Y., Fujimura, H., Himoro, M., Hayasaka, K., Sakoda, S., and Yanagihara, T. (1994). Elevatedexpression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann. Neurol. 35, 445-450.
    • (1994) Ann. Neurol. , vol.35 , pp. 445-450
    • Yoshikawa, H.1    Nishimura, T.2    Nakatsuji, Y.3    Fujimura, H.4    Himoro, M.5    Hayasaka, K.6    Sakoda, S.7    Yanagihara, T.8
  • 53
    • 0028950408 scopus 로고
    • Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: Modulation of cell growth
    • Zoidl, G., Blass-Kampmann, S., D'Urso, D., Schmalenbach, C., and Müller, H.W. (1995). Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth. EMBOJ. 14, 1122-1128.
    • (1995) EMBOJ , vol.14 , pp. 1122-1128
    • Zoidl, G.1    Blass-Kampmann, S.2    D'Urso, D.3    Schmalenbach, C.4    Müller, H.W.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.