메뉴 건너뛰기




Volumn 3, Issue , 2010, Pages

Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome

Author keywords

[No Author keywords available]

Indexed keywords


EID: 77951871470     PISSN: None     EISSN: 17560500     Source Type: Journal    
DOI: 10.1186/1756-0500-3-99     Document Type: Article
Times cited : (5)

References (30)
  • 1
    • 0002896804 scopus 로고
    • Sur une form particulière d'atrophie musculaire progressive, souvant familiale, debutant par les pieds et les jambes, et atteignant plus tard les mains
    • Sur une form particulière d'atrophie musculaire progressive, souvant familiale, debutant par les pieds et les jambes, et atteignant plus tard les mains. JM Charcot P Marie, Rev Méd Paris 1886 6 97 138
    • (1886) Rev Méd Paris , vol.6 , pp. 97-138
    • Charcot, J.M.1    Marie, P.2
  • 3
    • 0016266593 scopus 로고
    • Genetic and clinical aspects of Charcot-Marie-Tooth's disease
    • 4430158
    • Genetic and clinical aspects of Charcot-Marie-Tooth's disease. H Skre, Clin Genet 1974 6 98 118 4430158
    • (1974) Clin Genet , vol.6 , pp. 98-118
    • Skre, H.1
  • 4
    • 0041653190 scopus 로고    scopus 로고
    • Hereditary motor and sensory neuropathies; A biological perspective
    • 10.1016/S1474-4422(02)00042-X. 12849515
    • Hereditary motor and sensory neuropathies; a biological perspective. ME Shy JY Garbern J Kamholz, Lancet Neurol 2002 1 110 118 10.1016/S1474-4422(02) 00042-X 12849515
    • (2002) Lancet Neurol , vol.1 , pp. 110-118
    • Shy, M.E.1    Garbern, J.Y.2    Kamholz, J.3
  • 5
    • 25444514731 scopus 로고    scopus 로고
    • Ganglioside-induced differentiation-associated protein-1 is a regulator of the mitochondrial network:new implications for Charcot-Marie-Tooth disease
    • 10.1083/jcb.200507087. 16172208
    • Ganglioside-induced differentiation-associated protein-1 is a regulator of the mitochondrial network:new implications for Charcot-Marie-Tooth disease. A Niemann M Ruegg V La Padula A Schenone U Suter, J Cell Biol 2005 170 1067 1078 10.1083/jcb.200507087 16172208
    • (2005) J Cell Biol , vol.170 , pp. 1067-1078
    • Niemann, A.1    Ruegg, M.2    La Padula, V.3    Schenone, A.4    Suter, U.5
  • 7
    • 0025253083 scopus 로고
    • Protein zero of peripheral nerve myelin:biosynthesis, membrane insertion, and evidence for homotypic interaction
    • 10.1016/0896-6273(90)90057-M. 1690568
    • Protein zero of peripheral nerve myelin:biosynthesis, membrane insertion, and evidence for homotypic interaction. D D'Urso PJ Brophy SM Staugaitis CS Gillespie AB Frey JG Stempak DR Colman, Neuron 1990 4 449 460 10.1016/0896-6273(90)90057-M 1690568
    • (1990) Neuron , vol.4 , pp. 449-460
    • D'Urso, D.1    Brophy, P.J.2    Staugaitis, S.M.3    Gillespie, C.S.4    Frey, A.B.5    Stempak, J.G.6    Colman, D.R.7
  • 8
    • 0029666456 scopus 로고    scopus 로고
    • Phosphorylation of myelin protein:recent advances
    • 10.1007/BF02527718. 8734447
    • Phosphorylation of myelin protein:recent advances. J Eichberg S Iyer, Neurochem Res 1996 21 527 535 10.1007/BF02527718 8734447
    • (1996) Neurochem Res , vol.21 , pp. 527-535
    • Eichberg, J.1    Iyer, S.2
  • 9
    • 0024074053 scopus 로고
    • Unwrapping the genes of myelin
    • 10.1016/0896-6273(88)90103-1. 2483101
    • Unwrapping the genes of myelin. G Lemke, Neuron 1988 1 535 543 10.1016/0896-6273(88)90103-1 2483101
    • (1988) Neuron , vol.1 , pp. 535-543
    • Lemke, G.1
  • 10
    • 0021849731 scopus 로고
    • Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin
    • 10.1016/0092-8674(85)90198-9. 2578885
    • Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin. G Lemke R Axel, Cell 1985 40 501 508 10.1016/0092-8674(85) 90198-9 2578885
    • (1985) Cell , vol.40 , pp. 501-508
    • Lemke, G.1    Axel, R.2
  • 11
    • 0025194356 scopus 로고
    • Role of myelin P0 protein as a homophilic adhesion molecule
    • 10.1038/344871a0. 1691824
    • Role of myelin P0 protein as a homophilic adhesion molecule. MT Filbin FS Walsh BD Trapp JA Pizzey GI Tennekoon, Nature 1990 344 871 872 10.1038/344871a0 1691824
    • (1990) Nature , vol.344 , pp. 871-872
    • Filbin, M.T.1    Walsh, F.S.2    Trapp, B.D.3    Pizzey, J.A.4    Tennekoon, G.I.5
  • 12
    • 0030246987 scopus 로고    scopus 로고
    • Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin
    • 10.1016/S0896-6273(00)80176-2. 8816707
    • Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin. L Shapiro JP Doyle P Hensley DR Colman WA Hendrickson, Neuron 1996 17 435 449 10.1016/S0896-6273(00)80176-2 8816707
    • (1996) Neuron , vol.17 , pp. 435-449
    • Shapiro, L.1    Doyle, J.P.2    Hensley, P.3    Colman, D.R.4    Hendrickson, W.A.5
  • 13
    • 0034660338 scopus 로고    scopus 로고
    • Absence of P0 leads to the dysregulation of myelin gene expression and myelin morphogenesis
    • 10.1002/1097-4547(20000615)60:6<714::AID-JNR3>3.0.CO;2-1. 10861783
    • Absence of P0 leads to the dysregulation of myelin gene expression and myelin morphogenesis. W Xu D Manichella H Jiang JM Vallat J Lilien P Baron G Scarlato J Kamholz ME Shy, J Neurosci Res 2000 60 714 724 10.1002/1097- 4547(20000615)60:6<714::AID-JNR3>3.0.CO;2-1 10861783
    • (2000) J Neurosci Res , vol.60 , pp. 714-724
    • Xu, W.1    Manichella, D.2    Jiang, H.3    Vallat, J.M.4    Lilien, J.5    Baron, P.6    Scarlato, G.7    Kamholz, J.8    Shy, M.E.9
  • 17
    • 0037224513 scopus 로고    scopus 로고
    • Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32):a clinicopathological study of 205 Japanese patients
    • 10.1093/brain/awg012. 12477701
    • Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32):a clinicopathological study of 205 Japanese patients. N Hattori M Yamamoto T Yoshihara H Koike M Nakagawa H Yoshikawa A Ohnishi K Hayasaka O Onodera M Baba H Yasuda T Saito K Nakashima J Kira R Kaji N Oka G Sobue Study Group for Hereditary Neuropathy in Japan, Brain 2003 126 134 151 10.1093/brain/awg012 12477701
    • (2003) Brain , vol.126 , pp. 134-151
    • Hattori, N.1    Yamamoto, M.2    Yoshihara, T.3    Koike, H.4    Nakagawa, M.5    Yoshikawa, H.6    Ohnishi, A.7    Hayasaka, K.8    Onodera, O.9    Baba, M.10    Yasuda, H.11    Saito, T.12    Nakashima, K.13    Kira, J.14    Kaji, R.15    Oka, N.16
  • 21
    • 0031964340 scopus 로고    scopus 로고
    • Mutations of the same sequence of the myelin P0 gene causing two different phenotypes
    • 9452091
    • Mutations of the same sequence of the myelin P0 gene causing two different phenotypes. F Schiavon A Rampazzo L Merlini C Angelini ML Mostacciuolo, Hum Mutat 1998 Suppl 1 217 219 9452091
    • (1998) Hum Mutat , Issue.SUPPL 1 , pp. 19217-219
    • Schiavon, F.1    Rampazzo, A.2    Merlini, L.3    Angelini, C.4    Mostacciuolo, M.L.5
  • 22
    • 0033027371 scopus 로고    scopus 로고
    • Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene
    • 10.1136/jnnp.66.6.779. 10329755
    • Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. F Chapon P Latour P Diraison S Schaeffer A Vandenberghe, J Neurol Neurosurg Psychiatry 1999 66 779 782 10.1136/jnnp.66.6.779 10329755
    • (1999) J Neurol Neurosurg Psychiatry , vol.66 , pp. 779-782
    • Chapon, F.1    Latour, P.2    Diraison, P.3    Schaeffer, S.4    Vandenberghe, A.5
  • 25
    • 38749104284 scopus 로고    scopus 로고
    • Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice
    • 10.1016/j.neuron.2007.12.021. 18255032
    • Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice. M Pennuto E Tinelli M Malaguti U Del Carro M D'Antonio D Ron A Quattrini ML Feltri L Wrabetz, Neuron 2008 57 393 405 10.1016/j.neuron.2007.12.021 18255032
    • (2008) Neuron , vol.57 , pp. 393-405
    • Pennuto, M.1    Tinelli, E.2    Malaguti, M.3    Del Carro, U.4    D'Antonio, M.5    Ron, D.6    Quattrini, A.7    Feltri, M.L.8    Wrabetz, L.9
  • 28
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
    • 10.1038/ng0197-62. 8988170
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. O Zhuchenko J Bailey P Bonnen T Ashizawa DW Stockton C Amos WB Dobyns SH Subramony HY Zoghbi CC Lee, Nat Genet 1997 15 62 69 10.1038/ng0197-62 8988170
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3    Ashizawa, T.4    Stockton, D.W.5    Amos, C.6    Dobyns, W.B.7    Subramony, S.H.8    Zoghbi, H.Y.9    Lee, C.C.10
  • 30
    • 0032790177 scopus 로고    scopus 로고
    • Phenotypic variation of a new P0 mutation in genetically identical twins
    • 10.1007/s004150050410. 10463363
    • Phenotypic variation of a new P0 mutation in genetically identical twins. W Marques Jr MG Hanna SR Marques MG Sweeney PK Thomas NW Wood, J Neurol 1999 246 596 599 10.1007/s004150050410 10463363
    • (1999) J Neurol , vol.246 , pp. 596-599
    • Jr, M.W.1    Hanna, M.G.2    Marques, S.R.3    Sweeney, M.G.4    Thomas, P.K.5    Wood, N.W.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.