메뉴 건너뛰기




Volumn 6, Issue 8, 2010, Pages

A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice

Author keywords

[No Author keywords available]

Indexed keywords

DYNAMIN I;

EID: 77957372574     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1001046     Document Type: Article
Times cited : (92)

References (48)
  • 3
    • 32944459586 scopus 로고    scopus 로고
    • Genetics of idiopathic generalized epilepsies
    • Gardiner M (2005) Genetics of idiopathic generalized epilepsies. Epilepsia 46 Suppl 9: 15-20.
    • (2005) Epilepsia 46 Suppl , vol.9 , pp. 15-20
    • Gardiner, M.1
  • 4
    • 0028036513 scopus 로고
    • Induction of mutant dynamin specifically blocks endocytic coated vesicle formation
    • Damke H, Baba T, Warnock DE, Schmid SL. (1994) Induction of mutant dynamin specifically blocks endocytic coated vesicle formation. J Cell Biol 127: 915-934.
    • (1994) J Cell Biol , vol.127 , pp. 915-934
    • Damke, H.1    Baba, T.2    Warnock, D.E.3    Schmid, S.L.4
  • 5
    • 0034526495 scopus 로고    scopus 로고
    • Dynamin and its role in membrane fission
    • Hinshaw JE (2000) Dynamin and its role in membrane fission. Annu Rev Cell Dev Biol 16: 483-519.
    • (2000) Annu Rev Cell Dev Biol , vol.16 , pp. 483-519
    • Hinshaw, J.E.1
  • 6
    • 0742288598 scopus 로고    scopus 로고
    • The dynamin superfamily: Universal membrane tubulation and fission molecules?
    • Praefcke GJ, McMahon HT (2004) The dynamin superfamily: universal membrane tubulation and fission molecules? Nat Rev Mol Cell Biol 5: 133-147.
    • (2004) Nat Rev Mol Cell Biol , vol.5 , pp. 133-147
    • Praefcke, G.J.1    McMahon, H.T.2
  • 7
    • 0028923349 scopus 로고
    • Tubular membrane invaginations coated by dynamin rings are induced by GTP-gamma S in nerve terminals
    • Takei K, McPherson PS, Schmid SL, De Camilli P (1995) Tubular membrane invaginations coated by dynamin rings are induced by GTP-gamma S in nerve terminals. Nature 374: 186-190.
    • (1995) Nature , vol.374 , pp. 186-190
    • Takei, K.1    McPherson, P.S.2    Schmid, S.L.3    de Camilli, P.4
  • 8
    • 0024368508 scopus 로고
    • Disappearance and reformation of synaptic vesicle membrane upon transmitter release observed under reversible blockage of membrane retrieval
    • Koenig JH, Ikeda K (1989) Disappearance and reformation of synaptic vesicle membrane upon transmitter release observed under reversible blockage of membrane retrieval. J Neurosci 9: 3844-3860.
    • (1989) J Neurosci , vol.9 , pp. 3844-3860
    • Koenig, J.H.1    Ikeda, K.2
  • 9
    • 34247583278 scopus 로고    scopus 로고
    • A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis
    • Ferguson SM, Brasnjo G, Hayashi M, Wolfel M, Collesi C, et al. (2007) A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis. Science 316: 570-574.
    • (2007) Science , vol.316 , pp. 570-574
    • Ferguson, S.M.1    Brasnjo, G.2    Hayashi, M.3    Wolfel, M.4    Collesi, C.5
  • 10
    • 41149145117 scopus 로고    scopus 로고
    • Cellandstimulus-dependent heterogeneity of synaptic vesicle endocytic recycling mechanisms revealed by studies of dynamin 1-null neurons
    • Hayashi M, Raimondi A, O'Toole E, Paradise S, Collesi C, et al. (2008) Cellandstimulus-dependent heterogeneity of synaptic vesicle endocytic recycling mechanisms revealed by studies of dynamin 1-null neurons. Proc Natl Acad Sci U S A 105: 2175-2180.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 2175-2180
    • Hayashi, M.1    Raimondi, A.2    O'Toole, E.3    Paradise, S.4    Collesi, C.5
  • 11
    • 0028137796 scopus 로고
    • Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues
    • Cook TA, Urrutia R, McNiven MA. (1994) Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues. Proc Natl Acad Sci U S A 91: 644-648.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 644-648
    • Cook, T.A.1    Urrutia, R.2    McNiven, M.A.3
  • 12
    • 0037452948 scopus 로고    scopus 로고
    • Dynamin 3 is a component of the postsynapse, where it interacts with mGluR5 and Homer
    • Gray NW, Fourgeaud L, Huang B, Chen J, Cao H, et al. (2003) Dynamin 3 is a component of the postsynapse, where it interacts with mGluR5 and Homer. Curr Biol 13: 510-515.
    • (2003) Curr Biol , vol.13 , pp. 510-515
    • Gray, N.W.1    Fourgeaud, L.2    Huang, B.3    Chen, J.4    Cao, H.5
  • 13
    • 0028847620 scopus 로고
    • Dephosphin/dynamin is a neuronal phosphoprotein concentrated in nerve terminals: Evidence from rat cerebellum
    • Powell KA, Robinson PJ (1995) Dephosphin/dynamin is a neuronal phosphoprotein concentrated in nerve terminals: evidence from rat cerebellum. Neuroscience 64: 821-833.
    • (1995) Neuroscience , vol.64 , pp. 821-833
    • Powell, K.A.1    Robinson, P.J.2
  • 14
    • 34548555643 scopus 로고    scopus 로고
    • Postsynaptic positioning of endocytic zones and AMPA receptor cycling by physical coupling of dynamin-3 to Homer
    • Lu J, Helton TD, Blanpied TA, Racz B, Newpher TM, et al. (2007) Postsynaptic positioning of endocytic zones and AMPA receptor cycling by physical coupling of dynamin-3 to Homer. Neuron 55: 874-889.
    • (2007) Neuron , vol.55 , pp. 874-889
    • Lu, J.1    Helton, T.D.2    Blanpied, T.A.3    Racz, B.4    Newpher, T.M.5
  • 15
    • 0018332644 scopus 로고
    • Reversible alteration in the neuromuscular junctions of Drosophila melanogaster bearing a temperature-sensitive mutation, shibire
    • Poodry CA, Edgar L (1979) Reversible alteration in the neuromuscular junctions of Drosophila melanogaster bearing a temperature-sensitive mutation, shibire. J Cell Biol 81: 520-527.
    • (1979) J Cell Biol , vol.81 , pp. 520-527
    • Poodry, C.A.1    Edgar, L.2
  • 16
    • 0035162334 scopus 로고    scopus 로고
    • Dynamin GTPase domain mutants block endocytic vesicle formation at morphologically distinct stages
    • Damke H, Binns DD, Ueda H, Schmid SL, Baba T (2001) Dynamin GTPase domain mutants block endocytic vesicle formation at morphologically distinct stages. Mol Biol Cell 12: 2578-2589.
    • (2001) Mol Biol Cell , vol.12 , pp. 2578-2589
    • Damke, H.1    Binns, D.D.2    Ueda, H.3    Schmid, S.L.4    Baba, T.5
  • 17
    • 0028670775 scopus 로고
    • Dynamin 1 antisense oligonucleotide treatment prevents neurite formation in cultured hippocampal neurons
    • Torre E, McNiven MA, Urrutia R (1994) Dynamin 1 antisense oligonucleotide treatment prevents neurite formation in cultured hippocampal neurons. J Biol Chem 269: 32411-32417.
    • (1994) J Biol Chem , vol.269 , pp. 32411-32417
    • Torre, E.1    McNiven, M.A.2    Urrutia, R.3
  • 18
    • 0033537976 scopus 로고    scopus 로고
    • Multiple distinct coiled-coils are involved in dynamin self-assembly
    • Okamoto PM, Tripet B, Litowski J, Hodges RS, Vallee RB (1999) Multiple distinct coiled-coils are involved in dynamin self-assembly. J Biol Chem 274: 10277-10286.
    • (1999) J Biol Chem , vol.274 , pp. 10277-10286
    • Okamoto, P.M.1    Tripet, B.2    Litowski, J.3    Hodges, R.S.4    Vallee, R.B.5
  • 19
    • 0033591257 scopus 로고    scopus 로고
    • A model for dynamin self-assembly based on binding between three different protein domains
    • Smirnova E, Shurland DL, Newman-Smith ED, Pishvaee B, van der Bliek AM (1999) A model for dynamin self-assembly based on binding between three different protein domains. J Biol Chem 274: 14942-14947.
    • (1999) J Biol Chem , vol.274 , pp. 14942-14947
    • Smirnova, E.1    Shurland, D.L.2    Newman-Smith, E.D.3    Pishvaee, B.4    der Bliek, V.A.M.5
  • 20
    • 33846513580 scopus 로고    scopus 로고
    • The dynamin middle domain is critical for tetramerization and higher-order selfassembly
    • Ramachandran R, Surka M, Chappie JS, Fowler DM, Foss TR, et al. (2007) The dynamin middle domain is critical for tetramerization and higher-order selfassembly. Embo J 26: 559-566.
    • (2007) Embo J , vol.26 , pp. 559-566
    • Ramachandran, R.1    Surka, M.2    Chappie, J.S.3    Fowler, D.M.4    Foss, T.R.5
  • 21
    • 36348953358 scopus 로고    scopus 로고
    • Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation
    • Echaniz-Laguna A, Nicot AS, Carre S, Franques J, Tranchant C, et al. (2007) Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. Neuromuscul Disord 17: 955-959.
    • (2007) Neuromuscul Disord , vol.17 , pp. 955-959
    • Echaniz-Laguna, A.1    Nicot, A.S.2    Carre, S.3    Franques, J.4    Tranchant, C.5
  • 22
    • 52949111313 scopus 로고    scopus 로고
    • A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapse
    • Patterson EE, Minor KM, Tchernatynskaia AV, Taylor SM, Shelton GD, et al. (2008) A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapse. Nat Genet 40: 1235-1239.
    • (2008) Nat Genet , vol.40 , pp. 1235-1239
    • Patterson, E.E.1    Minor, K.M.2    Tchernatynskaia, A.V.3    Taylor, S.M.4    Shelton, G.D.5
  • 23
    • 34249791771 scopus 로고    scopus 로고
    • Na(v)1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: A circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation
    • Ogiwara I, Miyamoto H, Morita N, Atapour N, Mazaki E, et al. (2007) Na(v)1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. J Neurosci 27: 5903-5914.
    • (2007) J Neurosci , vol.27 , pp. 5903-5914
    • Ogiwara, I.1    Miyamoto, H.2    Morita, N.3    Atapour, N.4    Mazaki, E.5
  • 24
    • 33748115786 scopus 로고    scopus 로고
    • Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy
    • Yu FH, Mantegazza M, Westenbroek RE, Robbins CA, Kalume F, et al. (2006) Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci 9: 1142-1149.
    • (2006) Nat Neurosci , vol.9 , pp. 1142-1149
    • Yu, F.H.1    Mantegazza, M.2    Westenbroek, R.E.3    Robbins, C.A.4    Kalume, F.5
  • 25
    • 34547629265 scopus 로고    scopus 로고
    • Complex seizure disorder caused by Brunol4 deficiency in mice
    • doi:10.1371/journal.pgen.0030124
    • Yang Y, Mahaffey CL, Berube N, Maddatu TP, Cox GA, et al. (2007) Complex seizure disorder caused by Brunol4 deficiency in mice. PLoS Genet 3: e124. doi:10.1371/journal.pgen.0030124.
    • (2007) PLoS Genet , vol.3
    • Yang, Y.1    Mahaffey, C.L.2    Berube, N.3    Maddatu, T.P.4    Cox, G.A.5
  • 27
    • 22144466901 scopus 로고    scopus 로고
    • Time and intensity coding at the hair cell's ribbon synapse
    • Fuchs PA (2005) Time and intensity coding at the hair cell's ribbon synapse. J Physiol 566: 7-12.
    • (2005) J Physiol , vol.566 , pp. 7-12
    • Fuchs, P.A.1
  • 28
    • 17244366230 scopus 로고    scopus 로고
    • Hair cell synaptic ribbons are essential for synchronous auditory signalling
    • Khimich D, Nouvian R, Pujol R, Tom Dieck S, Egner A, et al. (2005) Hair cell synaptic ribbons are essential for synchronous auditory signalling. Nature 434: 889-894.
    • (2005) Nature , vol.434 , pp. 889-894
    • Khimich, D.1    Nouvian, R.2    Pujol, R.3    Dieck, T.S.4    Egner, A.5
  • 29
    • 18744384968 scopus 로고    scopus 로고
    • Fast vesicle replenishment allows indefatigable signalling at the first auditory synapse
    • Griesinger CB, Richards CD, Ashmore JF (2005) Fast vesicle replenishment allows indefatigable signalling at the first auditory synapse. Nature 435: 212-215.
    • (2005) Nature , vol.435 , pp. 212-215
    • Griesinger, C.B.1    Richards, C.D.2    Ashmore, J.F.3
  • 30
    • 0030987613 scopus 로고    scopus 로고
    • A dynamin GTPase mutation causes a rapid and reversible temperatureinducible locomotion defect in C. elegans
    • Clark SG, Shurland DL, Meyerowitz EM, Bargmann CI, van der Bliek AM (1997) A dynamin GTPase mutation causes a rapid and reversible temperatureinducible locomotion defect in C. elegans. Proc Natl Acad Sci USA 94: 10438-10443.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 10438-10443
    • Clark, S.G.1    Shurland, D.L.2    Meyerowitz, E.M.3    Bargmann, C.I.4    der Bliek, V.A.M.5
  • 31
    • 0025810110 scopus 로고
    • Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic
    • van der Bliek AM, Meyerowitz EM (1991) Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic. Nature 351: 411-414.
    • (1991) Nature , vol.351 , pp. 411-414
    • der Bliek, V.A.M.1    Meyerowitz, E.M.2
  • 32
    • 0031026631 scopus 로고    scopus 로고
    • The dynamins: Redundant or distinct functions for an expanding family of related GTPases?
    • Urrutia R, Henley JR, Cook T, McNiven MA (1997) The dynamins: redundant or distinct functions for an expanding family of related GTPases? Proc Natl Acad Sci U S A 94: 377-384.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 377-384
    • Urrutia, R.1    Henley, J.R.2    Cook, T.3    McNiven, M.A.4
  • 33
    • 0028784414 scopus 로고
    • Dynamin forms polymeric complexes in the presence of lipid vesicles. Characterization of chemically cross-linked dynamin molecules
    • Tuma PL, Collins CA (1995) Dynamin forms polymeric complexes in the presence of lipid vesicles. Characterization of chemically cross-linked dynamin molecules. J Biol Chem 270: 26707-26714.
    • (1995) J Biol Chem , vol.270 , pp. 26707-26714
    • Tuma, P.L.1    Collins, C.A.2
  • 34
    • 0035826257 scopus 로고    scopus 로고
    • GTPase activity of dynamin and resulting conformation change are essential for endocytosis
    • Marks B, Stowell MH, Vallis Y, Mills IG, Gibson A, et al. (2001) GTPase activity of dynamin and resulting conformation change are essential for endocytosis. Nature 410: 231-235.
    • (2001) Nature , vol.410 , pp. 231-235
    • Marks, B.1    Stowell, M.H.2    Vallis, Y.3    Mills, I.G.4    Gibson, A.5
  • 35
    • 66149143187 scopus 로고    scopus 로고
    • Cargo and dynamin regulate clathrin-coated pit maturation
    • doi:10.1371/journal.pbio.1000057
    • Loerke D, Mettlen M, Yarar D, Jaqaman K, Jaqaman H, et al. (2009) Cargo and dynamin regulate clathrin-coated pit maturation. PLoS Biol 7: e57. doi:10.1371/journal.pbio.1000057.
    • (2009) PLoS Biol , vol.7
    • Loerke, D.1    Mettlen, M.2    Yarar, D.3    Jaqaman, K.4    Jaqaman, H.5
  • 36
    • 2342473321 scopus 로고    scopus 로고
    • An assembly-incompetent mutant establishes a requirement for dynamin self-assembly in clathrin-mediated endocytosis in vivo
    • Song BD, Yarar D, Schmid SL (2004b) An assembly-incompetent mutant establishes a requirement for dynamin self-assembly in clathrin-mediated endocytosis in vivo. Mol Biol Cell 15: 2243-2252.
    • (2004) Mol Biol Cell , vol.15 , pp. 2243-2252
    • Song, B.D.1    Yarar, D.2    Schmid, S.L.3
  • 37
    • 17644424000 scopus 로고    scopus 로고
    • An internal GAP domain negatively regulates presynaptic dynamin in vivo: A twostep model for dynamin function
    • Narayanan R, Leonard M, Song BD, Schmid SL, Ramaswami M (2005) An internal GAP domain negatively regulates presynaptic dynamin in vivo: a twostep model for dynamin function. J Cell Biol 169: 117-126.
    • (2005) J Cell Biol , vol.169 , pp. 117-126
    • Narayanan, R.1    Leonard, M.2    Song, B.D.3    Schmid, S.L.4    Ramaswami, M.5
  • 38
    • 75349092139 scopus 로고    scopus 로고
    • Acute dynamin inhibition dissects synaptic vesicle recycling pathways that drive spontaneous and evoked neurotransmission
    • Chung C, Barylko B, Leitz J, Liu X, Kavalali ET (2010) Acute dynamin inhibition dissects synaptic vesicle recycling pathways that drive spontaneous and evoked neurotransmission. J Neurosci 30: 1363-1376.
    • (2010) J Neurosci , vol.30 , pp. 1363-1376
    • Chung, C.1    Barylko, B.2    Leitz, J.3    Liu, X.4    Kavalali, E.T.5
  • 39
    • 38349014354 scopus 로고    scopus 로고
    • Dynamin 2 mediates fluid-phase micropinocytosis in epithelial cells
    • Cao H, Chen J, Awoniyi M, Henley JR, McNiven MA (2007) Dynamin 2 mediates fluid-phase micropinocytosis in epithelial cells. J Cell Sci 120: 4167-4177.
    • (2007) J Cell Sci , vol.120 , pp. 4167-4177
    • Cao, H.1    Chen, J.2    Awoniyi, M.3    Henley, J.R.4    McNiven, M.A.5
  • 40
    • 0031720535 scopus 로고    scopus 로고
    • Differential distribution of dynamin isoforms in mammalian cells
    • Cao H, Garcia F, McNiven MA (1998) Differential distribution of dynamin isoforms in mammalian cells. Mol Biol Cell 9: 2595-2609.
    • (1998) Mol Biol Cell , vol.9 , pp. 2595-2609
    • Cao, H.1    Garcia, F.2    McNiven, M.A.3
  • 41
    • 59549107562 scopus 로고    scopus 로고
    • Identification of a developmentally regulated pathway of membrane retrieval in neuronal growth cones
    • Bonanomi D, Fornasiero EF, Valdez G, Halegoua S, Benfenati F, et al. (2008) Identification of a developmentally regulated pathway of membrane retrieval in neuronal growth cones. J Cell Sci 121: 3757-3769.
    • (2008) J Cell Sci , vol.121 , pp. 3757-3769
    • Bonanomi, D.1    Fornasiero, E.F.2    Valdez, G.3    Halegoua, S.4    Benfenati, F.5
  • 42
    • 7444250117 scopus 로고    scopus 로고
    • Experience and activity-dependent maturation of perisomatic GABAergic innervation in primary visual cortex during a postnatal critical period
    • Chattopadhyaya B, Di Cristo G, Higashiyama H, Knott GW, Kuhlman SJ, et al. (2004) Experience and activity-dependent maturation of perisomatic GABAergic innervation in primary visual cortex during a postnatal critical period. J Neurosci 24: 9598-9611.
    • (2004) J Neurosci , vol.24 , pp. 9598-9611
    • Chattopadhyaya, B.1    Cristo, D.G.2    Higashiyama, H.3    Knott, G.W.4    Kuhlman, S.J.5
  • 44
    • 0038702369 scopus 로고    scopus 로고
    • Spontaneous deletion of epilepsy gene orthologs in a mutant mouse with a low electroconvulsive threshold
    • Yang Y, Beyer BJ, Otto JF, O'Brien TP, Letts VA, et al. (2003) Spontaneous deletion of epilepsy gene orthologs in a mutant mouse with a low electroconvulsive threshold. Hum Mol Genet 12: 975-984.
    • (2003) Hum Mol Genet , vol.12 , pp. 975-984
    • Yang, Y.1    Beyer, B.J.2    Otto, J.F.3    O'Brien, T.P.4    Letts, V.A.5
  • 45
    • 0031800709 scopus 로고    scopus 로고
    • Validation of corneally kindled mice: A sensitive screening model for partial epilepsy in man
    • Matagne A, Klitgaard H (1998) Validation of corneally kindled mice: a sensitive screening model for partial epilepsy in man. Epilepsy Res 31: 59-71.
    • (1998) Epilepsy Res , vol.31 , pp. 59-71
    • Matagne, A.1    Klitgaard, H.2
  • 46
    • 35448995721 scopus 로고    scopus 로고
    • Detection and differentiation of sensorineural hearing loss in mice using auditory steady-state responses and transient auditory brainstem responses
    • Pauli-Magnus D, Hoch G, Strenzke N, Anderson S, Jentsch TJ, et al. (2007) Detection and differentiation of sensorineural hearing loss in mice using auditory steady-state responses and transient auditory brainstem responses. Neuroscience 149: 673-684.
    • (2007) Neuroscience , vol.149 , pp. 673-684
    • Pauli-Magnus, D.1    Hoch, G.2    Strenzke, N.3    Anderson, S.4    Jentsch, T.J.5
  • 47
    • 1342280524 scopus 로고    scopus 로고
    • Maturation of layer V pyramidal neurons in the rat prefrontal cortex: Intrinsic properties and synaptic function
    • Zhang ZW (2004) Maturation of layer V pyramidal neurons in the rat prefrontal cortex: intrinsic properties and synaptic function. J Neurophysiol 91: 1171-1182.
    • (2004) J Neurophysiol , vol.91 , pp. 1171-1182
    • Zhang, Z.W.1
  • 48
    • 0344091562 scopus 로고    scopus 로고
    • Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies
    • Haug K, Warnstedt M, Alekov AK, Sander T, Ramirez A, et al. (2003) Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Gen 33: 527-532.
    • (2003) Nat Gen , vol.33 , pp. 527-532
    • Haug, K.1    Warnstedt, M.2    Alekov, A.K.3    Sander, T.4    Ramirez, A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.