메뉴 건너뛰기




Volumn 53, Issue 4, 1999, Pages 846-851

Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22

Author keywords

Charcot Marie Tooth neuropathy type 1A; Peripheral myelin protein 22

Indexed keywords

MYELIN PROTEIN;

EID: 0033546939     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.53.4.846     Document Type: Article
Times cited : (24)

References (36)
  • 2
    • 16044362374 scopus 로고    scopus 로고
    • 0) mutations may include Charcot-Marie-Tooth 1B, Dejerine-Sottas and congenital hypomyelination
    • 0) mutations may include Charcot-Marie-Tooth 1B, Dejerine-Sottas and congenital hypomyelination. Neuron 1996;17:451-460.
    • (1996) Neuron , vol.17 , pp. 451-460
    • Warner, L.E.1    Hilz, M.J.2    Appel, S.H.3
  • 3
    • 0031943222 scopus 로고    scopus 로고
    • Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
    • Warner LE, Mancias P, Butler IJ, et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 1998;18:382-384.
    • (1998) Nat Genet , vol.18 , pp. 382-384
    • Warner, L.E.1    Mancias, P.2    Butler, I.J.3
  • 5
    • 0026519132 scopus 로고
    • Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)
    • Snipes GJ, Suter U, Welcher AA, Shooter EM. Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13), J Cell Biol 1992;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
  • 6
    • 0028073907 scopus 로고
    • Regulation of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters
    • Suter U, Snipes GJ, Schoener-Scott R, et al. Regulation of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. J Biol Chem 1994;269:25795-25808.
    • (1994) J Biol Chem , vol.269 , pp. 25795-25808
    • Suter, U.1    Snipes, G.J.2    Schoener-Scott, R.3
  • 7
    • 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, Schneider C. Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMT1A. Genes Dev 1995;9:1846-1856.
    • (1995) Genes Dev , vol.9 , pp. 1846-1856
    • Fabbretti, E.1    Edomi, P.2    Brancolini, C.3    Schneider, C.4
  • 8
    • 0028851362 scopus 로고
    • Peripheral myelin protein 22: Facts and hypothesis
    • Suter U, Snipes GJ. Peripheral myelin protein 22: facts and hypothesis. J Neurosci Res 1995;40:145-151.
    • (1995) J Neurosci Res , vol.40 , pp. 145-151
    • Suter, U.1    Snipes, G.J.2
  • 9
    • 0027425265 scopus 로고
    • Human peripheral myelin protein-22 carries the L2/HNK-1 carbohydrate adhesion epitope
    • Snipes GJ, Suter U, Shooter EM. Human peripheral myelin protein-22 carries the L2/HNK-1 carbohydrate adhesion epitope. J Neurochem 1993;61:1961-1964.
    • (1993) J Neurochem , vol.61 , pp. 1961-1964
    • Snipes, G.J.1    Suter, U.2    Shooter, E.M.3
  • 10
    • 0032125441 scopus 로고    scopus 로고
    • Pathogenesis of Charcot-Marie-Tooth 1A (CMT1A) neuropathy
    • Hanemann CO, Muller HW. Pathogenesis of Charcot-Marie-Tooth 1A (CMT1A) neuropathy. Trends Neurosci 1998;21: 282-286.
    • (1998) Trends Neurosci , vol.21 , pp. 282-286
    • Hanemann, C.O.1    Muller, H.W.2
  • 11
    • 0030900850 scopus 로고    scopus 로고
    • Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies
    • Naef R, Adlkofer K, Lescher B, Suter U. Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies. Mol Cell Neurosci 1997;9:13-25.
    • (1997) Mol Cell Neurosci , vol.9 , pp. 13-25
    • Naef, R.1    Adlkofer, K.2    Lescher, B.3    Suter, U.4
  • 12
    • 0031799468 scopus 로고    scopus 로고
    • Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2-p12 duplication: A cross-sectional morphometric and immunohistochemical study in twenty cases
    • Fabrizi GM, Simonati A, Morbin M, et al. Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2-p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases. Muscle Nerve 1998;21:869-877.
    • (1998) Muscle Nerve , vol.21 , pp. 869-877
    • Fabrizi, G.M.1    Simonati, A.2    Morbin, M.3
  • 13
    • 0027422165 scopus 로고
    • 0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
    • 0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III), Nat Genet 1993;5: 266-268.
    • (1993) Nat Genet , vol.5 , pp. 266-268
    • Hayasaka, K.1    Himoro, M.2    Sawaishi, Y.3
  • 14
    • 0027314668 scopus 로고
    • Charcot-Marie-Tooth disease type 1A: Association with a spontaneous point mutation in the PMP22 gene
    • Roa BB, Garcia CA, Suter U, et al. Charcot-Marie-Tooth disease type 1A: association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 1993;329:96-101.
    • (1993) N Engl J Med , vol.329 , pp. 96-101
    • Roa, B.B.1    Garcia, C.A.2    Suter, U.3
  • 16
    • 0029908245 scopus 로고    scopus 로고
    • Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerve from patients with Charcot-Marie-Tooth disease type 1A
    • Nishimura T, Yoshikawa H, Fujimura H, Sakoda S, Yanagihara T. Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerve from patients with Charcot-Marie-Tooth disease type 1A. Acta Neuropathol (Berl) 1996;92:454-460.
    • (1996) Acta Neuropathol (Berl) , vol.92 , pp. 454-460
    • Nishimura, T.1    Yoshikawa, H.2    Fujimura, H.3    Sakoda, S.4    Yanagihara, T.5
  • 17
    • 1842412458 scopus 로고    scopus 로고
    • Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): Normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecules expression in onion bulbs
    • Hanemann CO, Gabreëls-Festen AAWM, Stoll G, Muller HW. Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecules expression in onion bulbs. Acta Neuropathol (Berl) 1997;94:310-315.
    • (1997) Acta Neuropathol (Berl) , vol.94 , pp. 310-315
    • Hanemann, C.O.1    Gabreëls-Festen, A.A.W.M.2    Stoll, G.3    Muller, H.W.4
  • 18
    • 0030985749 scopus 로고    scopus 로고
    • The phenotypic manifestations of chromosome 17p11.2 duplication
    • Thomas PK, Marques W Jr, Davis MB, et al. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 1997;120:465-478.
    • (1997) Brain , vol.120 , pp. 465-478
    • Thomas, P.K.1    Marques W., Jr.2    Davis, M.B.3
  • 19
    • 0021080193 scopus 로고
    • Comparison of Trembler and Trembler-J mouse phenotypes: Varying severity of peripheral hypomyelination
    • Henry EW, Cowen JS, Sidman RL. Comparison of Trembler and Trembler-J mouse phenotypes: varying severity of peripheral hypomyelination. J Neuropathol Exp Neurol 1983;42: 688-706.
    • (1983) J Neuropathol Exp Neurol , vol.42 , pp. 688-706
    • Henry, E.W.1    Cowen, J.S.2    Sidman, R.L.3
  • 20
    • 0027031611 scopus 로고
    • Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A
    • Valentijn LJ, Baas F, Wolterman RA, et al. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet 1992;2:288-291.
    • (1992) Nat Genet , vol.2 , pp. 288-291
    • Valentijn, L.J.1    Baas, F.2    Wolterman, R.A.3
  • 21
    • 0031972929 scopus 로고    scopus 로고
    • Overloaded endoplasmic reticulum-Golgi compartments: A possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22
    • D'Urso D, Prior R, Greiner-Petter R, Gabreëls-Festen AAWM, Muller HW. Overloaded endoplasmic reticulum-Golgi compartments: a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22. J Neurosci 1997;18:731-740.
    • (1997) J Neurosci , vol.18 , pp. 731-740
    • D'Urso, D.1    Prior, R.2    Greiner-Petter, R.3    Gabreëls-Festen, A.A.W.M.4    Muller, H.W.5
  • 23
    • 0029959083 scopus 로고    scopus 로고
    • Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies
    • Meijerink PHS, Hoogendijk JE, Anneke A, et al. Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies. Ann Neurol 1996;40:672-675.
    • (1996) Ann Neurol , vol.40 , pp. 672-675
    • Meijerink, P.H.S.1    Hoogendijk, J.E.2    Anneke, A.3
  • 24
    • 0030897325 scopus 로고    scopus 로고
    • 0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B
    • 0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B. J Neurol Sci 1997;149:103-109.
    • (1997) J Neurol Sci , vol.149 , pp. 103-109
    • Komiyama, A.1    Ohnishi, A.2    Izawa, K.3    Yamamori, S.4    Ohashi, H.5    Hasegawa, O.6
  • 25
    • 0031128105 scopus 로고    scopus 로고
    • Molecular bases of myelin formation as revealed by investigations on mice deficient in glial cell surface molecules
    • Martini R, Schachner M. Molecular bases of myelin formation as revealed by investigations on mice deficient in glial cell surface molecules. Glia 1997;19:298-310.
    • (1997) Glia , vol.19 , pp. 298-310
    • Martini, R.1    Schachner, M.2
  • 26
    • 0023967387 scopus 로고
    • Isolation and analysis of the gene encoding peripheral myelin protein zero
    • Lemke G, Axel R. Isolation and analysis of the gene encoding peripheral myelin protein zero. Neuron 1988;1:73-78.
    • (1988) Neuron , vol.1 , pp. 73-78
    • Lemke, G.1    Axel, R.2
  • 28
    • 0028244197 scopus 로고
    • 0 interacts with negatively charged phospholipid bilayers
    • 0 interacts with negatively charged phospholipid bilayers. J Biol Chem 1994;269:10764-10770.
    • (1994) J Biol Chem , vol.269 , pp. 10764-10770
    • Dyng, Y.1    Brunden, K.R.2
  • 29
    • 0025253083 scopus 로고
    • Protein zero of peripheral nerve myelin: Biosynthesis, membrane insertion, and evidence for homotypic interaction
    • D' Urso D, Brophy PJ, Staugaitis SM, et al. Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence for homotypic interaction. Neuron 1990;2:449-460.
    • (1990) Neuron , vol.2 , pp. 449-460
    • D' Urso, D.1    Brophy, P.J.2    Staugaitis, S.M.3
  • 33
    • 0027509953 scopus 로고
    • DNA deletion associated with hereditary neuropathy with liability to pressure palsies
    • Chance PF, Alderson MK, Lepping KA, et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993;72:143-151.
    • (1993) Cell , vol.72 , pp. 143-151
    • Chance, P.F.1    Alderson, M.K.2    Lepping, K.A.3
  • 34
    • 0000325399 scopus 로고
    • The pathology of neuropathies with focal thickening of the myelin sheath (tomaculous neuropathy): Studies on the formation of the abnormal myelin sheath
    • Madrid R, Bradley WG. The pathology of neuropathies with focal thickening of the myelin sheath (tomaculous neuropathy): studies on the formation of the abnormal myelin sheath. J Neurol Sci 1975;25:415-448.
    • (1975) J Neurol Sci , vol.25 , pp. 415-448
    • Madrid, R.1    Bradley, W.G.2
  • 35
    • 0026045524 scopus 로고
    • Uncompacted lamellae as a feature of tomaculous neuropathy
    • Jacobs JM, Gregory R. Uncompacted lamellae as a feature of tomaculous neuropathy. Acta Neuropathol (Berl) 1991;83:87-91.
    • (1991) Acta Neuropathol (Berl) , vol.83 , pp. 87-91
    • Jacobs, J.M.1    Gregory, R.2
  • 36
    • 0025912158 scopus 로고
    • Uncompacted inner myelin lamellae in inherited tendency to pressure palsy
    • Yoshikawa H, Dyck PJ. Uncompacted inner myelin lamellae in inherited tendency to pressure palsy. J Neuropathol Exp Neurol 1991;50:649-657.
    • (1991) J Neuropathol Exp Neurol , vol.50 , pp. 649-657
    • Yoshikawa, H.1    Dyck, P.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.