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Volumn 13, Issue 19, 2004, Pages 2207-2220

Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; NEUROFILAMENT PROTEIN; PROTEIN SUBUNIT;

EID: 5444267945     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh236     Document Type: Article
Times cited : (75)

References (49)
  • 1
    • 0027547466 scopus 로고
    • Molecular biology of neuronal intermediate filaments
    • Liem, R.K. (1993) Molecular biology of neuronal intermediate filaments. Curr. Opin. Cell Biol., 5, 12-16.
    • (1993) Curr. Opin. Cell Biol. , vol.5 , pp. 12-16
    • Liem, R.K.1
  • 2
    • 0019888431 scopus 로고
    • Self-assembly in vitro of the 68,000 molecular weight component of the mammalian neurofilament triplet proteins into intermediate-sized filaments
    • Geisler, N. and Weber, K. (1981) Self-assembly in vitro of the 68,000 molecular weight component of the mammalian neurofilament triplet proteins into intermediate-sized filaments. J. Mol. Biol., 151, 565-571.
    • (1981) J. Mol. Biol. , vol.151 , pp. 565-571
    • Geisler, N.1    Weber, K.2
  • 3
    • 0020488844 scopus 로고
    • Purification of individual components of the neurofilament triplet: Filament assembly from the 70,000-dalton subunit
    • Liem, R.K. and Hutchison, S.B. (1982) Purification of individual components of the neurofilament triplet: filament assembly from the 70,000-dalton subunit. Biochemistry, 21, 3221-3226.
    • (1982) Biochemistry , vol.21 , pp. 3221-3226
    • Liem, R.K.1    Hutchison, S.B.2
  • 4
    • 0027220073 scopus 로고
    • Assembly of type IV neuronal intermediate filaments in nonneuronal cells in the absence of preexisting cytoplasmic intermediate filaments
    • Ching, G.Y. and Liem, R.K. (1993) Assembly of type IV neuronal intermediate filaments in nonneuronal cells in the absence of preexisting cytoplasmic intermediate filaments. J. Cell Biol., 122, 1323-1335.
    • (1993) J. Cell Biol. , vol.122 , pp. 1323-1335
    • Ching, G.Y.1    Liem, R.K.2
  • 5
    • 0027293898 scopus 로고
    • Neurofilaments are obligate heteropolymers in vivo
    • Lee, M.K., Xu, Z., Wong, P.C. and Cleveland, D.W. (1993) Neurofilaments are obligate heteropolymers in vivo. J. Cell Biol., 122, 1337-1350.
    • (1993) J. Cell Biol. , vol.122 , pp. 1337-1350
    • Lee, M.K.1    Xu, Z.2    Wong, P.C.3    Cleveland, D.W.4
  • 6
    • 0031263931 scopus 로고    scopus 로고
    • Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments
    • Zhu, Q., Couillard-Despres, S. and Julien, J.P. (1997) Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments. Exp. Neurol., 148, 299-316.
    • (1997) Exp. Neurol. , vol.148 , pp. 299-316
    • Zhu, Q.1    Couillard-Despres, S.2    Julien, J.P.3
  • 7
    • 0037032099 scopus 로고    scopus 로고
    • Impaired axonal transport of cortical neurons in Alzheimer's disease is associated with neuropathological changes
    • Dai, J., Buijs, R.M., Kamphorst, W. and Swaab, D.F. (2002) Impaired axonal transport of cortical neurons in Alzheimer's disease is associated with neuropathological changes. Brain Res., 948, 138-144.
    • (2002) Brain Res. , vol.948 , pp. 138-144
    • Dai, J.1    Buijs, R.M.2    Kamphorst, W.3    Swaab, D.F.4
  • 9
    • 0031910093 scopus 로고    scopus 로고
    • Aggregation of neurofilament and alpha-synuclein proteins in Lewy bodies: Implications for the pathogenesis of Parkinson disease and Lewy body dementia
    • Trojanowski, J.Q. and Lee, V.M. (1998) Aggregation of neurofilament and alpha-synuclein proteins in Lewy bodies: implications for the pathogenesis of Parkinson disease and Lewy body dementia. Arch. Neurol., 55, 151-152.
    • (1998) Arch. Neurol. , vol.55 , pp. 151-152
    • Trojanowski, J.Q.1    Lee, V.M.2
  • 10
    • 0033366384 scopus 로고    scopus 로고
    • Slowing of axonal transport is a very early event in the toxicity of ALS-linked SOD1 mutants to motor neurons
    • Williamson, T.L. and Cleveland, D.W. (1999) Slowing of axonal transport is a very early event in the toxicity of ALS-linked SOD1 mutants to motor neurons. Nature Neurosci., 2, 50-56.
    • (1999) Nature Neurosci. , vol.2 , pp. 50-56
    • Williamson, T.L.1    Cleveland, D.W.2
  • 11
    • 0030752545 scopus 로고    scopus 로고
    • The role of axonal cytoskeleton in diabetic neuropathy
    • McLean, W.G. (1997) The role of axonal cytoskeleton in diabetic neuropathy. Neurochem. Res., 22, 951-956.
    • (1997) Neurochem. Res. , vol.22 , pp. 951-956
    • McLean, W.G.1
  • 13
    • 0041653190 scopus 로고    scopus 로고
    • Hereditary motor and sensory neuropathies: A biological perspective
    • Shy, M.E., Garbern, J.Y. and Kamholz, J. (2002) Hereditary motor and sensory neuropathies: a biological perspective. Lancet Neurol., 1, 110-118.
    • (2002) Lancet Neurol. , vol.1 , pp. 110-118
    • Shy, M.E.1    Garbern, J.Y.2    Kamholz, J.3
  • 14
    • 0141833983 scopus 로고    scopus 로고
    • Disease mechanisms in inherited neuropathies
    • Suter, U. and Scherer, S.S. (2003) Disease mechanisms in inherited neuropathies. Nat. Rev. Neurosci., 4, 714-726.
    • (2003) Nat. Rev. Neurosci. , vol.4 , pp. 714-726
    • Suter, U.1    Scherer, S.S.2
  • 18
    • 0036900365 scopus 로고    scopus 로고
    • Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: Analysis of Charcot-Marie-Tooth disease patients and normal individuals
    • Yoshihara, T., Yamamoto, M., Hattori, N., Misu, K., Mori, K., Koike, H. and Sobue, G. (2002) Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals. J. Peripher. Nerv. Syst., 7, 221-224.
    • (2002) J. Peripher. Nerv. Syst. , vol.7 , pp. 221-224
    • Yoshihara, T.1    Yamamoto, M.2    Hattori, N.3    Misu, K.4    Mori, K.5    Koike, H.6    Sobue, G.7
  • 20
    • 0347090624 scopus 로고    scopus 로고
    • The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy
    • Zuchner, S., Vorgerd, M., Sindern, E. and Schroder J.M. (2004) The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. Neuromuscul. Disord., 14, 147-157.
    • (2004) Neuromuscul. Disord. , vol.14 , pp. 147-157
    • Zuchner, S.1    Vorgerd, M.2    Sindern, E.3    Schroder, J.M.4
  • 22
    • 0037115722 scopus 로고    scopus 로고
    • Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation
    • Perez-Olle, R., Leung, C.L. and Liem, R.K. (2002) Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation. J. Cell Sci., 115, 4937-4946.
    • (2002) J. Cell Sci. , vol.115 , pp. 4937-4946
    • Perez-Olle, R.1    Leung, C.L.2    Liem, R.K.3
  • 23
    • 0029970685 scopus 로고    scopus 로고
    • Sequence variants in human neurofilament proteins: Absence of linkage to familial amyotrophic lateral sclerosis
    • Vechio, J.D., Bruijn, L.I., Xu, Z., Brown, R.H., Jr and Cleveland, D.W. (1996) Sequence variants in human neurofilament proteins: absence of linkage to familial amyotrophic lateral sclerosis. Ann. Neurol., 40, 603-610.
    • (1996) Ann. Neurol. , vol.40 , pp. 603-610
    • Vechio, J.D.1    Bruijn, L.I.2    Xu, Z.3    Brown Jr., R.H.4    Cleveland, D.W.5
  • 24
    • 1542350078 scopus 로고    scopus 로고
    • Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan
    • Yamamoto, M., Yoshihara, T., Hattori, N. and Sobue, G. (2004) Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan. Neurogenetics, 5, 75-77.
    • (2004) Neurogenetics , vol.5 , pp. 75-77
    • Yamamoto, M.1    Yoshihara, T.2    Hattori, N.3    Sobue, G.4
  • 25
    • 0030987407 scopus 로고    scopus 로고
    • MultiCoil: A program for predicting two- and three-stranded coiled coils
    • Wolf, E., Kim, P.S. and Berger, B. (1997) MultiCoil: a program for predicting two- and three-stranded coiled coils. Protein Sci., 6, 1179-1189.
    • (1997) Protein Sci. , vol.6 , pp. 1179-1189
    • Wolf, E.1    Kim, P.S.2    Berger, B.3
  • 27
    • 0033579464 scopus 로고    scopus 로고
    • Sequence and structure-based prediction of eukaryotic protein phosphorylation sites
    • Blom, N., Gammeltoft, S. and Brunak, S. (1999) Sequence and structure-based prediction of eukaryotic protein phosphorylation sites. J. Mol. Biol., 294, 1351-1362.
    • (1999) J. Mol. Biol. , vol.294 , pp. 1351-1362
    • Blom, N.1    Gammeltoft, S.2    Brunak, S.3
  • 29
    • 0030022780 scopus 로고    scopus 로고
    • Activation of protein kinase C induces neurofilament fragmentation, hyperphosphorylation of perikaryal neurofilaments and proximal dendritic swellings in cultured motor neurons
    • Doroudchi, M.M. and Durham, H.D. (1996) Activation of protein kinase C induces neurofilament fragmentation, hyperphosphorylation of perikaryal neurofilaments and proximal dendritic swellings in cultured motor neurons. J. Neuropathol. Exp. Neurol., 55, 246-256.
    • (1996) J. Neuropathol. Exp. Neurol. , vol.55 , pp. 246-256
    • Doroudchi, M.M.1    Durham, H.D.2
  • 30
    • 0032570802 scopus 로고    scopus 로고
    • Neurofilament (NF) assembly; divergent characteristics of human and rodent NF-L subunits
    • Carter, J., Gragerov, A., Konvicka, K., Elder, G., Weinstein, H. and Lazzarini, R.A. (1998) Neurofilament (NF) assembly; divergent characteristics of human and rodent NF-L subunits. J. Biol. Chem., 273, 5101-5108.
    • (1998) J. Biol. Chem. , vol.273 , pp. 5101-5108
    • Carter, J.1    Gragerov, A.2    Konvicka, K.3    Elder, G.4    Weinstein, H.5    Lazzarini, R.A.6
  • 31
    • 0027328373 scopus 로고
    • Glycosylation of mammalian neurofilaments. Localization of multiple O-linked N-acetylglucosamine moieties on neurofilament polypeptides L and M
    • Dong, D.L., Xu, Z.S., Chevrier, M.R., Cotter, R.J., Cleveland, D.W. and Hart G.W. (1993) Glycosylation of mammalian neurofilaments. Localization of multiple O-linked N-acetylglucosamine moieties on neurofilament polypeptides L and M. J. Biol. Chem., 268, 16679-16687.
    • (1993) J. Biol. Chem. , vol.268 , pp. 16679-16687
    • Dong, D.L.1    Xu, Z.S.2    Chevrier, M.R.3    Cotter, R.J.4    Cleveland, D.W.5    Hart, G.W.6
  • 32
    • 0029786683 scopus 로고    scopus 로고
    • Cytoplasmic O-GlcNAc modification of the head domain and the KSP repeat motif of the neurofilament protein neurofilament-H
    • Dong, D.L., Xu, Z.S., Hart, G.W. and Cleveland, D.W. (1996) Cytoplasmic O-GlcNAc modification of the head domain and the KSP repeat motif of the neurofilament protein neurofilament-H. J. Biol. Chem., 271, 20845-20852.
    • (1996) J. Biol. Chem. , vol.271 , pp. 20845-20852
    • Dong, D.L.1    Xu, Z.S.2    Hart, G.W.3    Cleveland, D.W.4
  • 33
    • 0345276565 scopus 로고    scopus 로고
    • Clogging of axons by tau, inhibition of axonal traffic and starvation of synapses
    • Mandelkow, E.M., Stamer, K., Vogel, R., Thies, E. and Mandelkow, E. (2003) Clogging of axons by tau, inhibition of axonal traffic and starvation of synapses. Neurobiol. Aging, 24, 1079-1085.
    • (2003) Neurobiol. Aging , vol.24 , pp. 1079-1085
    • Mandelkow, E.M.1    Stamer, K.2    Vogel, R.3    Thies, E.4    Mandelkow, E.5
  • 34
  • 35
    • 0029812897 scopus 로고    scopus 로고
    • Impairment of fast axonal transport in the proximal axons of anterior horn neurons in amyotrophic lateral sclerosis
    • Sasaki, S. and Iwata, M. (1996) Impairment of fast axonal transport in the proximal axons of anterior horn neurons in amyotrophic lateral sclerosis. Neurology, 47, 535-540.
    • (1996) Neurology , vol.47 , pp. 535-540
    • Sasaki, S.1    Iwata, M.2
  • 36
    • 0021878488 scopus 로고
    • Hereditary motor sensory neuropathy type II with neurofilament accumulation: New finding or new disorder?
    • Vogel, P., Gabriel, M., Goebel, H.H. and Dyck, P.J. (1985) Hereditary motor sensory neuropathy type II with neurofilament accumulation: new finding or new disorder? Ann. Neurol., 17, 455-461.
    • (1985) Ann. Neurol. , vol.17 , pp. 455-461
    • Vogel, P.1    Gabriel, M.2    Goebel, H.H.3    Dyck, P.J.4
  • 39
    • 0029004898 scopus 로고
    • Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis
    • Collard, J.F., Cote, F. and Julien, J.P. (1995) Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis. Nature, 375, 61-64.
    • (1995) Nature , vol.375 , pp. 61-64
    • Collard, J.F.1    Cote, F.2    Julien, J.P.3
  • 40
    • 0026580004 scopus 로고
    • Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells
    • De Waegh, S.M., Lee, V.M. and Brady, S.T. (1992) Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells. Cell, 68, 451-463.
    • (1992) Cell , vol.68 , pp. 451-463
    • De Waegh, S.M.1    Lee, V.M.2    Brady, S.T.3
  • 41
    • 0028004013 scopus 로고
    • Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1
    • Watson, D.F., Nachtman, F.N., Kuncl, R.W. and Griffin, J.W. (1994) Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1. Neurology, 44, 2383-2387.
    • (1994) Neurology , vol.44 , pp. 2383-2387
    • Watson, D.F.1    Nachtman, F.N.2    Kuncl, R.W.3    Griffin, J.W.4
  • 42
    • 0032948049 scopus 로고    scopus 로고
    • Axonal pathology in demyelinating diseases
    • Scherer, S. (1999) Axonal pathology in demyelinating diseases. Ann. Neurol., 45, 6-7.
    • (1999) Ann. Neurol. , vol.45 , pp. 6-7
    • Scherer, S.1
  • 43
    • 0041808715 scopus 로고    scopus 로고
    • Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve
    • Previtali, S.C., Zerega, B., Sherman, D.L., Brophy, P.J., Dina, G., King, R.H., Salih, M.M., Feltri, L., Quattrini, A., Ravazzolo, R. et al. (2003) Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve. Hum. Mol. Genet., 12, 1713-1723.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 1713-1723
    • Previtali, S.C.1    Zerega, B.2    Sherman, D.L.3    Brophy, P.J.4    Dina, G.5    King, R.H.6    Salih, M.M.7    Feltri, L.8    Quattrini, A.9    Ravazzolo, R.10
  • 45
    • 0028261670 scopus 로고
    • Neurofilament-deficient axons and perikaryal aggregates in viable transgenic mice expressing a neurofilament-beta-galactosidase fusion protein
    • Eyer, J. and Peterson, A. (1994) Neurofilament-deficient axons and perikaryal aggregates in viable transgenic mice expressing a neurofilament-beta-galactosidase fusion protein. Neuron, 12, 389-405.
    • (1994) Neuron , vol.12 , pp. 389-405
    • Eyer, J.1    Peterson, A.2
  • 46
    • 0028116467 scopus 로고
    • A mutant neurofilament subunit causes massive, selective motor neuron death: Implications for the pathogenesis of human motor neuron disease
    • Lee, M.K., Marszalek, J.R. and Cleveland, D.W. (1994) A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease. Neuron, 13, 975-988.
    • (1994) Neuron , vol.13 , pp. 975-988
    • Lee, M.K.1    Marszalek, J.R.2    Cleveland, D.W.3
  • 47
    • 0025339874 scopus 로고
    • Regulated expression of vimentin cDNA in cells in the presence and absence of a preexisting vimentin filament network
    • Sarria, A.J., Nordeen, S.K. and Evans, R.M. (1990) Regulated expression of vimentin cDNA in cells in the presence and absence of a preexisting vimentin filament network. J. Cell Biol., 111, 553-565.
    • (1990) J. Cell Biol. , vol.111 , pp. 553-565
    • Sarria, A.J.1    Nordeen, S.K.2    Evans, R.M.3
  • 48
    • 0031036380 scopus 로고    scopus 로고
    • Characterization of a CNS cell line, CAD, in which morphological differentiation is initiated by serum deprivation
    • Qi, Y., Wang, J.K., McMillian, M. and Chikaraishi, D.M. (1997) Characterization of a CNS cell line, CAD, in which morphological differentiation is initiated by serum deprivation. J. Neurosci., 17, 1217-1225.
    • (1997) J. Neurosci. , vol.17 , pp. 1217-1225
    • Qi, Y.1    Wang, J.K.2    McMillian, M.3    Chikaraishi, D.M.4
  • 49
    • 0025837147 scopus 로고
    • Characterization of a panel of neurofilament antibodies recognizing N- terminal epitopes
    • Kaplan, M.P., Chin, S.S., Macioce, P., Srinawasan, J., Hashim, G. and Liem, R.K. (1991) Characterization of a panel of neurofilament antibodies recognizing N- terminal epitopes. J. Neurosci. Res., 30, 545-554.
    • (1991) J. Neurosci. Res. , vol.30 , pp. 545-554
    • Kaplan, M.P.1    Chin, S.S.2    Macioce, P.3    Srinawasan, J.4    Hashim, G.5    Liem, R.K.6


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