-
1
-
-
0037462770
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Characterization of the movement of the kinesin motor KIF1A in living cultured neurons
-
COI: 1:CAS:528:DC%2BD3sXksFaltw%3D%3D, PID: 12435738
-
Lee JR, Shin H, Ko J, Choi J, Lee H, Kim E (2003) Characterization of the movement of the kinesin motor KIF1A in living cultured neurons. J Biol Chem 278:2624–2629. doi:10.1074/jbc.M211152200
-
(2003)
J Biol Chem
, vol.278
, pp. 2624-2629
-
-
Lee, J.R.1
Shin, H.2
Ko, J.3
Choi, J.4
Lee, H.5
Kim, E.6
-
2
-
-
0029051298
-
The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors
-
COI: 1:CAS:528:DyaK2MXmtFOiurs%3D, PID: 7539720
-
Okada Y, Yamazaki H, Sekine-Aizawa Y, Hirokawa N (1995) The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors. Cell 81:769–780. doi:10.1016/0092-8674(95)90538-3
-
(1995)
Cell
, vol.81
, pp. 769-780
-
-
Okada, Y.1
Yamazaki, H.2
Sekine-Aizawa, Y.3
Hirokawa, N.4
-
3
-
-
80051663564
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KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2
-
PID: 21820098
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Rivière JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA (2011) KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet 89:219–230. doi:10.1016/j.ajhg.2011.06.013
-
(2011)
Am J Hum Genet
, vol.89
, pp. 219-230
-
-
Rivière, J.B.1
Ramalingam, S.2
Lavastre, V.3
Shekarabi, M.4
Holbert, S.5
Lafontaine, J.6
Srour, M.7
Merner, N.8
Rochefort, D.9
Hince, P.10
Gaudet, R.11
Mes-Masson, A.M.12
Baets, J.13
Houlden, H.14
Brais, B.15
Nicholson, G.A.16
Van Esch, H.17
Nafissi, S.18
De Jonghe, P.19
Reilly, M.M.20
Timmerman, V.21
Dion, P.A.22
Rouleau, G.A.23
more..
-
4
-
-
79955556527
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Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis
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COI: 1:CAS:528:DC%2BC3MXmtV2qsL0%3D, PID: 21487076
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Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O (2011) Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res 21:658–664. doi:10.1101/gr.117143.110
-
(2011)
Genome Res
, vol.21
, pp. 658-664
-
-
Erlich, Y.1
Edvardson, S.2
Hodges, E.3
Zenvirt, S.4
Thekkat, P.5
Shaag, A.6
Dor, T.7
Hannon, G.J.8
Elpeleg, O.9
-
5
-
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84861183934
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KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations
-
COI: 1:CAS:528:DC%2BC38Xnt1yhurY%3D, PID: 22258533
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Klebe S, Lossos A, Azzedine H, Mundwiller E, Sheffer R, Gaussen M, Marelli C, Nawara M, Carpentier W, Meyer V, Rastetter A, Martin E, Bouteiller D, Orlando L, Gyapay G, El-Hachimi KH, Zimmerman B, Gamliel M, Misk A, Lerer I, Brice A, Durr A, Stevanin G (2012) KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. Eur J Hum Genet 20:645–649. doi:10.1038/ejhg.2011.261
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 645-649
-
-
Klebe, S.1
Lossos, A.2
Azzedine, H.3
Mundwiller, E.4
Sheffer, R.5
Gaussen, M.6
Marelli, C.7
Nawara, M.8
Carpentier, W.9
Meyer, V.10
Rastetter, A.11
Martin, E.12
Bouteiller, D.13
Orlando, L.14
Gyapay, G.15
El-Hachimi, K.H.16
Zimmerman, B.17
Gamliel, M.18
Misk, A.19
Lerer, I.20
Brice, A.21
Durr, A.22
Stevanin, G.23
more..
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6
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79952484202
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Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability
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COI: 1:CAS:528:DC%2BC3MXjtFOhtrk%3D, PID: 21376300
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Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A, Tomitori H, Daoud H, Massicotte C, Henrion E, Diallo O, S2D Group, Shekarabi M, Marineau C, Shevell M, Maranda B, Mitchell G, Nadeau A, D’Anjou G, Vanasse M, Srour M, Lafrenière RG, Drapeau P, Lacaille JC, Kim E, Lee JR, Igarashi K, Huganir RL, Rouleau GA, Michaud JL (2011) Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet 88:306–316. doi:10.1016/j.ajhg.2011.02.001
-
(2011)
Am J Hum Genet
, vol.88
, pp. 306-316
-
-
Hamdan, F.F.1
Gauthier, J.2
Araki, Y.3
Lin, D.T.4
Yoshizawa, Y.5
Higashi, K.6
Park, A.R.7
Spiegelman, D.8
Dobrzeniecka, S.9
Piton, A.10
Tomitori, H.11
Daoud, H.12
Massicotte, C.13
Henrion, E.14
Diallo, O.15
S2D Group16
Shekarabi, M.17
Marineau, C.18
Shevell, M.19
Maranda, B.20
Mitchell, G.21
Nadeau, A.22
D’Anjou, G.23
Vanasse, M.24
Srour, M.25
Lafrenière, R.G.26
Drapeau, P.27
Lacaille, J.C.28
Kim, E.29
Lee, J.R.30
Igarashi, K.31
Huganir, R.L.32
Rouleau, G.A.33
Michaud, J.L.34
more..
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7
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84925235788
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KIF1A mutation in a patient with progressive neurodegeneration
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COI: 1:CAS:528:DC%2BC2cXhvF2nu7nM, PID: 25253658
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Okamoto N, Miya F, Tsunoda T, Yanagihara K, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K (2014) KIF1A mutation in a patient with progressive neurodegeneration. J Hum Genet 59:639–641. doi:10.1038/jhg.2014.80
-
(2014)
J Hum Genet
, vol.59
, pp. 639-641
-
-
Okamoto, N.1
Miya, F.2
Tsunoda, T.3
Yanagihara, K.4
Kato, M.5
Saitoh, S.6
Yamasaki, M.7
Kanemura, Y.8
Kosaki, K.9
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8
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84945582884
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De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy
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COI: 1:CAS:528:DC%2BC2MXhtVajurjM, PID: 26125038
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Esmaeeli Nieh S, Madou MR, Sirajuddin M, Fregeau B, McKnight D, Lexa K, Strober J, Spaeth C, Hallinan BE, Smaoui N, Pappas JG, Burrow TA, McDonald MT, Latibashvili M, Leshinsky-Silver E, Lev D, Blumkin L, Vale RD, Barkovich AJ, Sherr EH (2015) De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. Ann Clin Transl Neurol 2(6):623–635. doi:10.1002/acn3.198
-
(2015)
Ann Clin Transl Neurol
, vol.2
, Issue.6
, pp. 623-635
-
-
Esmaeeli Nieh, S.1
Madou, M.R.2
Sirajuddin, M.3
Fregeau, B.4
McKnight, D.5
Lexa, K.6
Strober, J.7
Spaeth, C.8
Hallinan, B.E.9
Smaoui, N.10
Pappas, J.G.11
Burrow, T.A.12
McDonald, M.T.13
Latibashvili, M.14
Leshinsky-Silver, E.15
Lev, D.16
Blumkin, L.17
Vale, R.D.18
Barkovich, A.J.19
Sherr, E.H.20
more..
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9
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84920091648
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De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy
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COI: 1:CAS:528:DC%2BC2MXhsFOmtg%3D%3D, PID: 25265257
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Lee JR, Srour M, Kim D, Hamdan FF, Lim SH, Brunel-Guitton C, Décarie JC, Rossignol E, Mitchell GA, Schreiber A, Moran R, Van Haren K, Richardson R, Nicolai J, Oberndorff KM, Wagner JD, Boycott KM, Rahikkala E, Junna N, Tyynismaa H, Cuppen I, Verbeek NE, Stumpel CT, Willemsen MA, de Munnik SA, Rouleau GA, Kim E, Kamsteeg EJ, Kleefstra T, Michaud JL (2015) De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. Hum Mutat 36:69–78. doi:10.1002/humu.22709
-
(2015)
Hum Mutat
, vol.36
, pp. 69-78
-
-
Lee, J.R.1
Srour, M.2
Kim, D.3
Hamdan, F.F.4
Lim, S.H.5
Brunel-Guitton, C.6
Décarie, J.C.7
Rossignol, E.8
Mitchell, G.A.9
Schreiber, A.10
Moran, R.11
Van Haren, K.12
Richardson, R.13
Nicolai, J.14
Oberndorff, K.M.15
Wagner, J.D.16
Boycott, K.M.17
Rahikkala, E.18
Junna, N.19
Tyynismaa, H.20
Cuppen, I.21
Verbeek, N.E.22
Stumpel, C.T.23
Willemsen, M.A.24
de Munnik, S.A.25
Rouleau, G.A.26
Kim, E.27
Kamsteeg, E.J.28
Kleefstra, T.29
Michaud, J.L.30
more..
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10
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84944168059
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Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia
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PID: 25585697
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Ylikallio E, Kim D, Isohanni P, Auranen M, Kim E, Lönnqvist T, Tyynismaa H (2015) Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. Eur J Hum Genet. doi:10.1038/ejhg.2014.297
-
(2015)
Eur J Hum Genet
-
-
Ylikallio, E.1
Kim, D.2
Isohanni, P.3
Auranen, M.4
Kim, E.5
Lönnqvist, T.6
Tyynismaa, H.7
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11
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0038176515
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Association of the kinesin motor KIF1A with the multimodular protein liprin-alpha
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COI: 1:CAS:528:DC%2BD3sXit1Kgtrc%3D, PID: 12522103
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Shin H, Wyszynski M, Huh KH, Valtschanoff JG, Lee JR, Ko J, Streuli M, Weinberg RJ, Sheng M, Kim E (2003) Association of the kinesin motor KIF1A with the multimodular protein liprin-alpha. J Biol Chem 278:11393–11401. doi:10.1074/jbc.M211874200
-
(2003)
J Biol Chem
, vol.278
, pp. 11393-11401
-
-
Shin, H.1
Wyszynski, M.2
Huh, K.H.3
Valtschanoff, J.G.4
Lee, J.R.5
Ko, J.6
Streuli, M.7
Weinberg, R.J.8
Sheng, M.9
Kim, E.10
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12
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0020641096
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Classification of the hereditary ataxias and paraplegias
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COI: 1:STN:280:DyaL3s7ptFSlsQ%3D%3D, PID: 6133167
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Harding AE (1983) Classification of the hereditary ataxias and paraplegias. Lancet 1(8334):1151–1155. doi:10.1016/S0140-6736(83)92879-9
-
(1983)
Lancet
, vol.1
, Issue.8334
, pp. 1151-1155
-
-
Harding, A.E.1
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13
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84899067023
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Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis
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Citterio A, Arnoldi A, Panzeri E, D’Angelo MG, Filosto M, Dilena R, Arrigoni F, Castelli M, Maghini C, Germiniasi C, Menni F, Martinuzzi A, Bresolin N, Bassi MT (2014) Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis. J Neurol 267:373–381. doi:10.1007/s00415-013-7206-6
-
(2014)
J Neurol
, vol.267
, pp. 373-381
-
-
Citterio, A.1
Arnoldi, A.2
Panzeri, E.3
D’Angelo, M.G.4
Filosto, M.5
Dilena, R.6
Arrigoni, F.7
Castelli, M.8
Maghini, C.9
Germiniasi, C.10
Menni, F.11
Martinuzzi, A.12
Bresolin, N.13
Bassi, M.T.14
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14
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64049111042
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Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10
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PID: 18853458
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Goizet C, Boukhris A, Mundwiller E, Tallaksen C, Forlani S, Toutain A, Carriere N, Paquis V, Depienne C, Durr A, Stevanin G, Brice A (2009) Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat 30:E376–E385. doi:10.1002/humu.20920
-
(2009)
Hum Mutat
, vol.30
, pp. E376-E385
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Goizet, C.1
Boukhris, A.2
Mundwiller, E.3
Tallaksen, C.4
Forlani, S.5
Toutain, A.6
Carriere, N.7
Paquis, V.8
Depienne, C.9
Durr, A.10
Stevanin, G.11
Brice, A.12
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15
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84947873515
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Genome database
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Genome database: http://browser.1000genomes.org/index.html
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16
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84947873516
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EVS:
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EVS: http://evs.gs.washington.edu/EVS/
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17
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84947873517
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NCBI dbSNP:
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NCBI dbSNP: http://www.ncbi.nlm.nih.gov/SNP/
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18
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84947873518
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SIFT and Provean:
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SIFT and Provean: http://sift.jcvi.org/
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19
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84947873519
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MutPred:
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MutPred: http://mutpred.mutdb.org/
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20
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84947873520
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Panther: ?
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Panther: http://www.pantherdb.org/tools/csnpScoreForm.jsp?
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