메뉴 건너뛰기




Volumn 89, Issue 10, 2011, Pages 1637-1645

Human L1CAM carrying the missense mutations of the fibronectin-like type III domains is localized in the endoplasmic reticulum and degraded by polyubiquitylation

Author keywords

ERAD; Human disease; L1CAM; Missense mutation; Ubiquitin

Indexed keywords

1 DEOXYMANNONOJIRIMYCIN; CASTANOSPERMINE; FIBRONECTIN; MANNOSE OLIGOSACCHARIDE; NERVE CELL ADHESION MOLECULE L1; PLASMID DNA; PROTEASOME;

EID: 79961208828     PISSN: 03604012     EISSN: 10974547     Source Type: Journal    
DOI: 10.1002/jnr.22695     Document Type: Article
Times cited : (9)

References (48)
  • 1
    • 0029957549 scopus 로고    scopus 로고
    • Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders
    • Bateman A, Jouet M, MacFarlane J, Du JS, Kenwrick S, Chothia C. 1996. Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders. EMBO J 15: 6050-6059.
    • (1996) EMBO J , vol.15 , pp. 6050-6059
    • Bateman, A.1    Jouet, M.2    MacFarlane, J.3    Du, J.S.4    Kenwrick, S.5    Chothia, C.6
  • 2
    • 0024989820 scopus 로고
    • Linkage of a gene for neural cell adhesion molecule, L1 (CamL1) to the Rsvp region of the mouse X chromosome
    • Chapman VM, Keitz BT, Stephenson DA, Mullins LJ, Moos M, Schachner M. 1990. Linkage of a gene for neural cell adhesion molecule, L1 (CamL1) to the Rsvp region of the mouse X chromosome. Genomics 8: 113-118.
    • (1990) Genomics , vol.8 , pp. 113-118
    • Chapman, V.M.1    Keitz, B.T.2    Stephenson, D.A.3    Mullins, L.J.4    Moos, M.5    Schachner, M.6
  • 3
  • 4
  • 5
    • 0033200228 scopus 로고    scopus 로고
    • Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities
    • De Angelis E, MacFarlane J, Du JS, Yeo G, Hicks R, Rathjen FG, Kenwrick S, BrummEndorf T. 1999. Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities. EMBO J 18: 4744-4753.
    • (1999) EMBO J , vol.18 , pp. 4744-4753
    • De Angelis, E.1    MacFarlane, J.2    Du, J.S.3    Yeo, G.4    Hicks, R.5    Rathjen, F.G.6    Kenwrick, S.7    BrummEndorf, T.8
  • 6
    • 0035980022 scopus 로고    scopus 로고
    • Alternative use of a mini exon of the L1 gene affects L1 binding to neural ligands
    • De Angelis E, BrummEndorf T, Cheng L, Lemmon V, Kenwrick S. 2001. Alternative use of a mini exon of the L1 gene affects L1 binding to neural ligands. J Biol Chem 276: 32738-32742.
    • (2001) J Biol Chem , vol.276 , pp. 32738-32742
    • De Angelis, E.1    BrummEndorf, T.2    Cheng, L.3    Lemmon, V.4    Kenwrick, S.5
  • 8
    • 0031891384 scopus 로고    scopus 로고
    • Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene
    • Du YZ, Srivastava AK, Schwartz CE. 1998. Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene. Hum Mutat 11: 222-230.
    • (1998) Hum Mutat , vol.11 , pp. 222-230
    • Du, Y.Z.1    Srivastava, A.K.2    Schwartz, C.E.3
  • 9
    • 0014690895 scopus 로고
    • Observations on molecular weight determinations on polyacrylamide gel
    • Dunkeri AK, Rueckert RR. 1969. Observations on molecular weight determinations on polyacrylamide gel. J Biol Chem 244: 5074-5080.
    • (1969) J Biol Chem , vol.244 , pp. 5074-5080
    • Dunkeri, A.K.1    Rueckert, R.R.2
  • 10
    • 0026317511 scopus 로고
    • Glycosidase inhibitors: inhibitors of N-linked oligosaccharide processing
    • Elbein AD. 1991. Glycosidase inhibitors: inhibitors of N-linked oligosaccharide processing. FASEB J 5: 3055-3063.
    • (1991) FASEB J , vol.5 , pp. 3055-3063
    • Elbein, A.D.1
  • 11
    • 0030296833 scopus 로고    scopus 로고
    • Neural cell adhesion molecules in activity-dependent development and synaptic plasticity
    • Fields RD, Itoh K. 1996. Neural cell adhesion molecules in activity-dependent development and synaptic plasticity. Trends Neurosci 19: 473-480.
    • (1996) Trends Neurosci , vol.19 , pp. 473-480
    • Fields, R.D.1    Itoh, K.2
  • 12
    • 0028564732 scopus 로고
    • X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene
    • Fransen E, Schrander-Stumpel C, Vits L, Coucke P, van Camp G, Willems PJ. 1994. X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene. Hum Mol Genet 3: 2255-2256.
    • (1994) Hum Mol Genet , vol.3 , pp. 2255-2256
    • Fransen, E.1    Schrander-Stumpel, C.2    Vits, L.3    Coucke, P.4    van Camp, G.5    Willems, P.J.6
  • 13
    • 0028876309 scopus 로고
    • CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1
    • Fransen E, Lemmon V, van Camp G, Vits L, Coucke P, Willems PJ. 1995. CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. Eur J Hum Genet 3: 273-284.
    • (1995) Eur J Hum Genet , vol.3 , pp. 273-284
    • Fransen, E.1    Lemmon, V.2    van Camp, G.3    Vits, L.4    Coucke, P.5    Willems, P.J.6
  • 14
    • 0030760042 scopus 로고    scopus 로고
    • L1-associated diseases: clinical geneticists divide, molecular geneticists unite
    • Fransen E, van Camp G, Vits L, Willems PJ. 1997. L1-associated diseases: clinical geneticists divide, molecular geneticists unite. Hum Mol Genet 6: 1625-1632.
    • (1997) Hum Mol Genet , vol.6 , pp. 1625-1632
    • Fransen, E.1    van Camp, G.2    Vits, L.3    Willems, P.J.4
  • 16
    • 0029094253 scopus 로고
    • Quality control in the secretory pathway
    • Hammond C, Helenius A. 1995. Quality control in the secretory pathway. Curr Opin Cell Biol 7: 523-529.
    • (1995) Curr Opin Cell Biol , vol.7 , pp. 523-529
    • Hammond, C.1    Helenius, A.2
  • 17
    • 0032872873 scopus 로고    scopus 로고
    • Heterophilic binding of L1 on unmyelinated sensory axons mediates Schwann cell adhesion and is required for axonal survival
    • Haney CA, Sahenk Z, Li C, Lemmon VP, Roder J, Trapp BD. 1999. Heterophilic binding of L1 on unmyelinated sensory axons mediates Schwann cell adhesion and is required for axonal survival. J Cell Biol 146: 1173-1184.
    • (1999) J Cell Biol , vol.146 , pp. 1173-1184
    • Haney, C.A.1    Sahenk, Z.2    Li, C.3    Lemmon, V.P.4    Roder, J.5    Trapp, B.D.6
  • 18
    • 0028848552 scopus 로고
    • Regulated expression and activity of the neural cell adhesion molecule L1 by specific patterns of neural impulses
    • Itoh K, Stevens B, Schachner M, Fields RD. 1995. Regulated expression and activity of the neural cell adhesion molecule L1 by specific patterns of neural impulses. Science 270: 1369-1372.
    • (1995) Science , vol.270 , pp. 1369-1372
    • Itoh, K.1    Stevens, B.2    Schachner, M.3    Fields, R.D.4
  • 19
    • 0034213658 scopus 로고    scopus 로고
    • Differential expression of alternatively spliced neural cell adhesion molecule L1 isoforms during oligodendrocyte maturation
    • Itoh K, Sakurai Y, Asou H, Umeda M. 2000. Differential expression of alternatively spliced neural cell adhesion molecule L1 isoforms during oligodendrocyte maturation. J Neurosci Res 60: 579-586.
    • (2000) J Neurosci Res , vol.60 , pp. 579-586
    • Itoh, K.1    Sakurai, Y.2    Asou, H.3    Umeda, M.4
  • 20
    • 19444383222 scopus 로고    scopus 로고
    • Dephosphorylation and internalization of cell adhesion molecule L1 induced by theta burst stimulation in rat hippocampus
    • Itoh K, Shimono K, Lemmon V. 2005. Dephosphorylation and internalization of cell adhesion molecule L1 induced by theta burst stimulation in rat hippocampus. Mol Cell Neurosci 29: 245-249.
    • (2005) Mol Cell Neurosci , vol.29 , pp. 245-249
    • Itoh, K.1    Shimono, K.2    Lemmon, V.3
  • 23
    • 0032527593 scopus 로고    scopus 로고
    • The neural cell adhesion molecule L1 interacts with the AP-2 adaptor and is endocytosed via the clathrin-mediated pathway
    • Kamiguchi H, Long KE, Pendergast M, Schaefer AW, Rapoport I, Kirchhausen T, Lemmon V. 1998. The neural cell adhesion molecule L1 interacts with the AP-2 adaptor and is endocytosed via the clathrin-mediated pathway. J Neurosci 18: 5311-5321.
    • (1998) J Neurosci , vol.18 , pp. 5311-5321
    • Kamiguchi, H.1    Long, K.E.2    Pendergast, M.3    Schaefer, A.W.4    Rapoport, I.5    Kirchhausen, T.6    Lemmon, V.7
  • 24
    • 0034639938 scopus 로고    scopus 로고
    • Neural cell recognition molecule L1: relating biological complexity to human disease mutations
    • Kenwrick S, Watkins A, De Angelis E. 2000. Neural cell recognition molecule L1: relating biological complexity to human disease mutations. Hum Mol Genet 9: 879-886.
    • (2000) Hum Mol Genet , vol.9 , pp. 879-886
    • Kenwrick, S.1    Watkins, A.2    De Angelis, E.3
  • 25
    • 0025941720 scopus 로고
    • Molecular cloning of cell adhesion molecule L1 from human nervous tissue: a comparison of the primary sequences of L1 molecules of different origin
    • Kobayashi M, Miura M, Asou H, Uyemura K. 1991. Molecular cloning of cell adhesion molecule L1 from human nervous tissue: a comparison of the primary sequences of L1 molecules of different origin. Biochim Biophys Acta 1090: 238-240.
    • (1991) Biochim Biophys Acta , vol.1090 , pp. 238-240
    • Kobayashi, M.1    Miura, M.2    Asou, H.3    Uyemura, K.4
  • 26
    • 0030949874 scopus 로고    scopus 로고
    • ER quality control: the cytoplasmic connection
    • Kopito RR. 1997. ER quality control: the cytoplasmic connection. Cell 88: 427-430.
    • (1997) Cell , vol.88 , pp. 427-430
    • Kopito, R.R.1
  • 27
    • 0021891884 scopus 로고
    • Assembly of asparagine-linked oligosaccharides
    • Kornfeld R, Kornfeld S. 1985. Assembly of asparagine-linked oligosaccharides. Annu Rev Biochem 54: 631-664.
    • (1985) Annu Rev Biochem , vol.54 , pp. 631-664
    • Kornfeld, R.1    Kornfeld, S.2
  • 29
    • 0023449097 scopus 로고
    • An L1-like molecule, the 8D9 antigen, is a potent substrate for neurite extension
    • Lagenaur C, Lemmon V. 1987. An L1-like molecule, the 8D9 antigen, is a potent substrate for neurite extension. Proc Natl Acad Sci U S A 84: 7753-7757.
    • (1987) Proc Natl Acad Sci U S A , vol.84 , pp. 7753-7757
    • Lagenaur, C.1    Lemmon, V.2
  • 30
    • 0024675417 scopus 로고
    • L1-mediated axon outgrowth occurs via a homophilic binding mechanism
    • Lemmon V, Farr KL, Lagenaur C. 1989. L1-mediated axon outgrowth occurs via a homophilic binding mechanism. Neuron 2: 1597-1603.
    • (1989) Neuron , vol.2 , pp. 1597-1603
    • Lemmon, V.1    Farr, K.L.2    Lagenaur, C.3
  • 31
    • 0021046979 scopus 로고
    • L1 mono- and polyclonal antibodies modify cell migration in early postnatal mouse cerebellum
    • Lindner J, Rathjen FG, Schachner M. 1983. L1 mono- and polyclonal antibodies modify cell migration in early postnatal mouse cerebellum. Nature 305: 427-430.
    • (1983) Nature , vol.305 , pp. 427-430
    • Lindner, J.1    Rathjen, F.G.2    Schachner, M.3
  • 32
    • 0031734986 scopus 로고    scopus 로고
    • The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus
    • Michaelis RC, Du YZ, Schwartz CE. 1998. The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus. J Med Genet 35: 901-904.
    • (1998) J Med Genet , vol.35 , pp. 901-904
    • Michaelis, R.C.1    Du, Y.Z.2    Schwartz, C.E.3
  • 33
    • 0028213490 scopus 로고
    • Glycosidases of the asparagine-linked oligosaccharide processing pathway
    • Moremen KW, Trimble RB, Herscovics A. 1994. Glycosidases of the asparagine-linked oligosaccharide processing pathway. Glycobiology 4: 113-125.
    • (1994) Glycobiology , vol.4 , pp. 113-125
    • Moremen, K.W.1    Trimble, R.B.2    Herscovics, A.3
  • 34
    • 0034255327 scopus 로고    scopus 로고
    • Clinical mutations in the L1 neural cell adhesion molecule affect cell-surface expression
    • Moulding HD, Martuza RL, Rabkin SD. 2000. Clinical mutations in the L1 neural cell adhesion molecule affect cell-surface expression. J Neurosci 20: 5696-5702.
    • (2000) J Neurosci , vol.20 , pp. 5696-5702
    • Moulding, H.D.1    Martuza, R.L.2    Rabkin, S.D.3
  • 35
    • 0036175755 scopus 로고    scopus 로고
    • Prenatal diagnosis of L1 cell adhesion molecule mutations. Capabilities and limitations
    • Moya GE, Michaelis RC, Holloway LW, Sanchez JM. 2002. Prenatal diagnosis of L1 cell adhesion molecule mutations. Capabilities and limitations. Fetal Diagn Ther 17: 115-119.
    • (2002) Fetal Diagn Ther , vol.17 , pp. 115-119
    • Moya, G.E.1    Michaelis, R.C.2    Holloway, L.W.3    Sanchez, J.M.4
  • 36
    • 0021298675 scopus 로고
    • Immunocytological and biochemical characterization of a new neuronal cell surface component (L1 antigen) which is involved in cell adhesion
    • Rathjen FG, Schachner M. 1984. Immunocytological and biochemical characterization of a new neuronal cell surface component (L1 antigen) which is involved in cell adhesion. EMBO J 3: 1-10.
    • (1984) EMBO J , vol.3 , pp. 1-10
    • Rathjen, F.G.1    Schachner, M.2
  • 37
    • 84970061068 scopus 로고
    • Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus
    • published erratum appears in Nat Genet 3:273, 1993.
    • Rosenthal A, Jouet M, Kenwrick S. 1992. Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. Nat Genet 2: 107-112 [published erratum appears in Nat Genet 3:273, 1993].
    • (1992) Nat Genet , vol.2 , pp. 107-112
    • Rosenthal, A.1    Jouet, M.2    Kenwrick, S.3
  • 38
    • 0037220860 scopus 로고    scopus 로고
    • The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo
    • Rünker AE, Bartsch U, Nave K-A, Schachner M. 2003. The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo. J Neurosci 23: 277-286.
    • (2003) J Neurosci , vol.23 , pp. 277-286
    • Rünker, A.E.1    Bartsch, U.2    Nave, K.-A.3    Schachner, M.4
  • 40
    • 78049278906 scopus 로고    scopus 로고
    • L1CAM ubiquitination facilitates its lysosomal degradation
    • Schäfer MK, Schmitz B, Diestel S. 2010b. L1CAM ubiquitination facilitates its lysosomal degradation. FEBS Lett 584: 4475-4480.
    • (2010) FEBS Lett , vol.584 , pp. 4475-4480
    • Schäfer, M.K.1    Schmitz, B.2    Diestel, S.3
  • 41
    • 0030936274 scopus 로고    scopus 로고
    • Synaptic-like microvesicles of neuroendocrine cells originate from a novel compartment that is continuous with the plasma membrane and devoid of transferrin receptor
    • Schmidt A, Hannah MJ, Huttner WB. 1997. Synaptic-like microvesicles of neuroendocrine cells originate from a novel compartment that is continuous with the plasma membrane and devoid of transferrin receptor. J Cell Biol 137: 445-458.
    • (1997) J Cell Biol , vol.137 , pp. 445-458
    • Schmidt, A.1    Hannah, M.J.2    Huttner, W.B.3
  • 43
    • 74049118059 scopus 로고    scopus 로고
    • An updated and upgraded L1CAM mutation database
    • Online.
    • Vos YJ, Hofstra MW. 2010. An updated and upgraded L1CAM mutation database. Hum Mutat Mutation in Brief 31: E 1102-E 1109 Online.
    • (2010) Hum Mutat Mutation in Brief , vol.31
    • Vos, Y.J.1    Hofstra, M.W.2
  • 44
    • 0034949521 scopus 로고    scopus 로고
    • Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): mutations in the L1CAM gene
    • Weller S, Gärtner J. 2001. Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): mutations in the L1CAM gene. Hum Mutat 18: 1-12.
    • (2001) Hum Mutat , vol.18 , pp. 1-12
    • Weller, S.1    Gärtner, J.2
  • 47
    • 0030858735 scopus 로고    scopus 로고
    • CRASH syndrome: mutations in L1CAM correlate with severity of the disease
    • Yamasaki M, Thompson P, Lemmon V. 1997. CRASH syndrome: mutations in L1CAM correlate with severity of the disease. Neuropediatrics 28: 175-178.
    • (1997) Neuropediatrics , vol.28 , pp. 175-178
    • Yamasaki, M.1    Thompson, P.2    Lemmon, V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.