-
1
-
-
33847660443
-
An optimized transgenesis system for Drosophila using germ-line-specific phiC31 integrases
-
Bischof, J., R.K. Maeda, M. Hediger, F. Karch, and K. Basler. 2007. An optimized transgenesis system for Drosophila using germ-line-specific phiC31 integrases. Proc. Natl. Acad. Sci. USA. 104:3312-3317. http://dx.doi.org/10.1073/pnas.0611511104
-
(2007)
Proc. Natl. Acad. Sci. USA
, vol.104
, pp. 3312-3317
-
-
Bischof, J.1
Maeda, R.K.2
Hediger, M.3
Karch, F.4
Basler, K.5
-
2
-
-
84892372632
-
The genetic basis of DOORS syndrome: an exome-sequencing study
-
Campeau, P.M., D. Kasperaviciute, J.T. Lu, L.C. Burrage, C. Kim, M. Hori, B.R.Powell, F. Stewart, T.M. Félix, J. van den Ende, et al. 2014. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol.13:44-58. http://dx.doi.org/10.1016/S1474-4422(13)70265-5
-
(2014)
Lancet Neurol
, vol.13
, pp. 44-58
-
-
Campeau, P.M.1
Kasperaviciute, D.2
Lu, J.T.3
Burrage, L.C.4
Kim, C.5
Hori, M.6
Powell, B.R.7
Stewart, F.8
Félix, T.M.9
van den Ende, J.10
-
3
-
-
77956394126
-
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
-
Corbett, M.A., M. Bahlo, L. Jolly, Z. Afawi, A.E. Gardner, K.L. Oliver, S. Tan,A. Coffey, J.C. Mulley, L.M. Dibbens, et al. 2010. A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Am. J.Hum. Genet. 87:371-375. http://dx.doi.org/10.1016/j.ajhg.2010.08.001
-
(2010)
Am. J.Hum. Genet
, vol.87
, pp. 371-375
-
-
Corbett, M.A.1
Bahlo, M.2
Jolly, L.3
Afawi, Z.4
Gardner, A.E.5
Oliver, K.L.6
Tan, S.7
Coffey, A.8
Mulley, J.C.9
Dibbens, L.M.10
-
4
-
-
22244450095
-
Aberrant lysosomal carbohydrate storage accompanies endocytic defects and neurodegeneration in Drosophila benchwarmer
-
Dermaut, B., K.K. Norga, A. Kania, P. Verstreken, H. Pan, Y. Zhou, P. Callaerts, and H.J. Bellen. 2005. Aberrant lysosomal carbohydrate storage accompanies endocytic defects and neurodegeneration in Drosophila benchwarmer. J. Cell Biol. 170:127-139. http://dx.doi.org/10.1083/jcb.200412001
-
(2005)
J. Cell Biol
, vol.170
, pp. 127-139
-
-
Dermaut, B.1
Norga, K.K.2
Kania, A.3
Verstreken, P.4
Pan, H.5
Zhou, Y.6
Callaerts, P.7
Bellen, H.J.8
-
5
-
-
34447530305
-
A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila
-
Dietzl, G., D. Chen, F. Schnorrer, K.-C. Su, Y. Barinova, M. Fellner, B. Gasser, K. Kinsey, S. Oppel, S. Scheiblauer, et al. 2007. A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila. Nature. 448:151-156. http://dx.doi.org/10.1038/nature05954
-
(2007)
Nature
, vol.448
, pp. 151-156
-
-
Dietzl, G.1
Chen, D.2
Schnorrer, F.3
Su, K.-C.4
Barinova, Y.5
Fellner, M.6
Gasser, B.7
Kinsey, K.8
Oppel, S.9
Scheiblauer, S.10
-
6
-
-
77956361137
-
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
-
Falace, A., F. Filipello, V. La Padula, N. Vanni, F. Madia, D. De Pietri Tonelli,F.A. de Falco, P. Striano, F. Dagna Bricarelli, C. Minetti, et al. 2010. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. Am. J. Hum. Genet. 87:365-370. http://dx.doi.org/10.1016/j.ajhg.2010.07.020
-
(2010)
Am. J. Hum. Genet
, vol.87
, pp. 365-370
-
-
Falace, A.1
Filipello, F.2
La Padula, V.3
Vanni, N.4
Madia, F.5
De Pietri Tonelli, D.6
de Falco, F.A.7
Striano, P.8
Dagna Bricarelli, F.9
Minetti, C.10
-
7
-
-
14644415031
-
The synaptic vesicle protein CSP α prevents presynaptic degeneration
-
Fernández-Chacón R., M. Wölfel, H. Nishimune, L. Tabares, F. Schmitz, M.Castellano-Muñoz, C. Rosenmund, M.L. Montesinos, J.R. Sanes, R. Schneggenburger, and T.C. Südhof. 2004. The synaptic vesicle protein CSP α prevents presynaptic degeneration. Neuron. 42:237-251. http://dx.doi.org/10.1016/S0896-6273(04)00190-4
-
(2004)
Neuron
, vol.42
, pp. 237-251
-
-
Fernández-Chacón, R.1
Wölfel, M.2
Nishimune, H.3
Tabares, L.4
Schmitz, F.5
Castellano-Muñoz, M.6
Rosenmund, C.7
Montesinos, M.L.8
Sanes, J.R.9
Schneggenburger, R.10
Südhof, T.C.11
-
8
-
-
84874779755
-
TBC1D24 truncating mutation resulting in severe neurodegeneration
-
Guven, A., and A. Tolun. 2013. TBC1D24 truncating mutation resulting in severe neurodegeneration. J. Med. Genet. 50:199-202. http://dx.doi.org/10.1136/jmedgenet-2012-101313
-
(2013)
J. Med. Genet
, vol.50
, pp. 199-202
-
-
Guven, A.1
Tolun, A.2
-
9
-
-
34249747195
-
Dynamics of the readily releasable pool during post-tetanic potentiation in the rat calyx of Held synapse
-
Habets, R.L., and J.G. Borst. 2007. Dynamics of the readily releasable pool during post-tetanic potentiation in the rat calyx of Held synapse. J. Physiol.581:467-478. http://dx.doi.org/10.1113/jphysiol.2006.127365
-
(2007)
J. Physiol
, vol.581
, pp. 467-478
-
-
Habets, R.L.1
Borst, J.G.2
-
10
-
-
69949122158
-
VarScan: variant detection in massively parallel sequencing of individual and pooled samples
-
Koboldt, D.C., K. Chen, T. Wylie, D.E. Larson, M.D. McLellan, E.R. Mardis, G.M. Weinstock, R.K. Wilson, and L. Ding. 2009. VarScan: variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics. 25:2283-2285. http://dx.doi.org/10.1093/bioinformatics/btp373
-
(2009)
Bioinformatics
, vol.25
, pp. 2283-2285
-
-
Koboldt, D.C.1
Chen, K.2
Wylie, T.3
Larson, D.E.4
McLellan, M.D.5
Mardis, E.R.6
Weinstock, G.M.7
Wilson, R.K.8
Ding, L.9
-
11
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li, H., and R. Durbin. 2009. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 25:1754-1760. http://dx.doi.org/10.1093/bioinformatics/btp324
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
12
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
Li, H., B. Handsaker, A. Wysoker, T. Fennell, J. Ruan, N. Homer, G. Marth, G. Abecasis, and R. Durbin. 1000 Genome Project Data Processing Subgroup. 2009. The Sequence Alignment/Map format and SAMtools. Bioinformatics. 25:2078-2079. http://dx.doi.org/10.1093/bioinformatics/btp352
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
Homer, N.6
Marth, G.7
Abecasis, G.8
Durbin, R.9
-
13
-
-
77955405475
-
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
-
McLaren, W., B. Pritchard, D. Rios, Y. Chen, P. Flicek, and F. Cunningham. 2010. Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics. 26:2069-2070. http://dx.doi.org/10.1093/bioinformatics/btq330
-
(2010)
Bioinformatics
, vol.26
, pp. 2069-2070
-
-
McLaren, W.1
Pritchard, B.2
Rios, D.3
Chen, Y.4
Flicek, P.5
Cunningham, F.6
-
14
-
-
84878122558
-
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy
-
Milh, M., A. Falace, N. Villeneuve, N. Vanni, P. Cacciagli, S. Assereto, R. Nabbout, F. Benfenati, F. Zara, B. Chabrol, et al. 2013. Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. Hum. Mutat. 34:869-872. http://dx.doi.org/10.1002/humu.22318
-
(2013)
Hum. Mutat
, vol.34
, pp. 869-872
-
-
Milh, M.1
Falace, A.2
Villeneuve, N.3
Vanni, N.4
Cacciagli, P.5
Assereto, S.6
Nabbout, R.7
Benfenati, F.8
Zara, F.9
Chabrol, B.10
-
15
-
-
84904068578
-
HDAC6 is a Bruchpilot deacetylase that facilitates neurotransmitter release
-
Miskiewicz, K., L.E. Jose, W.M. Yeshaw, J.S. Valadas, J. Swerts, S. Munck, F. Feiguin, B. Dermaut, and P. Verstreken. 2014. HDAC6 is a Bruchpilot deacetylase that facilitates neurotransmitter release. Cell Reports. 8:94-102. http://dx.doi.org/10.1016/j.celrep.2014.05.051
-
(2014)
Cell Reports
, vol.8
, pp. 94-102
-
-
Miskiewicz, K.1
Jose, L.E.2
Yeshaw, W.M.3
Valadas, J.S.4
Swerts, J.5
Munck, S.6
Feiguin, F.7
Dermaut, B.8
Verstreken, P.9
-
16
-
-
0034610156
-
Drosophila endosomalproteins hook and deep orange regulate synapse size but not synaptic vesicle recycling
-
Narayanan, R., H. Krämer, and M. Ramaswami. 2000. Drosophila endosomalproteins hook and deep orange regulate synapse size but not synaptic vesicle recycling. J. Neurobiol. 45:105-119. http://dx.doi.org/10.1002/1097-4695(20001105)45:2<105::AID-NEU5>3.0.CO;2-X
-
(2000)
J. Neurobiol
, vol.45
, pp. 105-119
-
-
Narayanan, R.1
Krämer, H.2
Ramaswami, M.3
-
17
-
-
0034053414
-
Analysis of Drosophila photoreceptor axon guidance in eye-specific mosaics
-
Newsome, T.P., B. Asling, and B.J. Dickson. 2000. Analysis of Drosophila photoreceptor axon guidance in eye-specific mosaics. Development. 127:851-860.
-
(2000)
Development
, vol.127
, pp. 851-860
-
-
Newsome, T.P.1
Asling, B.2
Dickson, B.J.3
-
18
-
-
10744233572
-
Systematic generation of high-resolution deletion coverage of the Drosophila melanogaster genome
-
Parks, A.L., K.R. Cook, M. Belvin, N.A. Dompe, R. Fawcett, K. Huppert, L.R. Tan, C.G. Winter, K.P. Bogart, J.E. Deal, et al. 2004. Systematic generation of high-resolution deletion coverage of the Drosophila melanogaster genome. Nat. Genet. 36:288-292. http://dx.doi.org/10.1038/ng1312
-
(2004)
Nat. Genet
, vol.36
, pp. 288-292
-
-
Parks, A.L.1
Cook, K.R.2
Belvin, M.3
Dompe, N.A.4
Fawcett, R.5
Huppert, K.6
Tan, L.R.7
Winter, C.G.8
Bogart, K.P.9
Deal, J.E.10
-
19
-
-
0036094538
-
Hrs sorts ubiquitinated proteins into clathrin-coated microdomains of early endosomes
-
Raiborg, C., K.G. Bache, D.J. Gillooly, I.H. Madshus, E. Stang, and H. Stenmark. 2002. Hrs sorts ubiquitinated proteins into clathrin-coated microdomains of early endosomes. Nat. Cell Biol. 4:394-398. http://dx.doi.org/10.1038/ncb791
-
(2002)
Nat. Cell Biol
, vol.4
, pp. 394-398
-
-
Raiborg, C.1
Bache, K.G.2
Gillooly, D.J.3
Madshus, I.H.4
Stang, E.5
Stenmark, H.6
-
20
-
-
0030830765
-
A novel RING finger protein complex essential for a late step in protein transport to the yeast vacuole
-
Rieder, S.E., and S.D. Emr. 1997. A novel RING finger protein complex essential for a late step in protein transport to the yeast vacuole. Mol. Biol. Cell. 8:2307-2327. http://dx.doi.org/10.1091/mbc.8.11.2307
-
(1997)
Mol. Biol. Cell
, vol.8
, pp. 2307-2327
-
-
Rieder, S.E.1
Emr, S.D.2
-
21
-
-
0033213257
-
A role for the deep orange and carnation eye color genes in lysosomal delivery in Drosophila
-
Sevrioukov, E.A., J.P. He, N. Moghrabi, A. Sunio, and H. Krämer. 1999. A role for the deep orange and carnation eye color genes in lysosomal delivery in Drosophila. Mol. Cell. 4:479-486. http://dx.doi.org/10.1016/S1097-2765(00)80199-9
-
(1999)
Mol. Cell
, vol.4
, pp. 479-486
-
-
Sevrioukov, E.A.1
He, J.P.2
Moghrabi, N.3
Sunio, A.4
Krämer, H.5
-
22
-
-
0030615064
-
Molecular characterization of the deep orange (dor) gene of Drosophila melanogaster
-
Shestopal, S.A., I.V. Makunin, E.S. Belyaeva, M. Ashburner, and I.F. Zhimulev. 1997. Molecular characterization of the deep orange (dor) gene of Drosophila melanogaster. Mol. Gen. Genet. 253:642-648. http://dx.doi.org/10.1007/s004380050367
-
(1997)
Mol. Gen. Genet
, vol.253
, pp. 642-648
-
-
Shestopal, S.A.1
Makunin, I.V.2
Belyaeva, E.S.3
Ashburner, M.4
Zhimulev, I.F.5
-
23
-
-
0345192349
-
A genetic method for generating Drosophila eyes composed exclusively of mitotic clones of a single genotype
-
Stowers, R.S., and T.L. Schwarz. 1999. A genetic method for generating Drosophila eyes composed exclusively of mitotic clones of a single genotype. Genetics. 152:1631-1639.
-
(1999)
Genetics.
, vol.152
, pp. 1631-1639
-
-
Stowers, R.S.1
Schwarz, T.L.2
-
24
-
-
58249123661
-
Monomeric fluorescent timers that change color from blue to red report on cellular trafficking
-
Subach, F.V., O.M. Subach, I.S. Gundorov, K.S. Morozova, K.D. Piatkevich, A.M. Cuervo, and V.V. Verkhusha. 2009. Monomeric fluorescent timers that change color from blue to red report on cellular trafficking. Nat.Chem. Biol. 5:118-126. http://dx.doi.org/10.1038/nchembio.138
-
(2009)
Nat.Chem. Biol
, vol.5
, pp. 118-126
-
-
Subach, F.V.1
Subach, O.M.2
Gundorov, I.S.3
Morozova, K.S.4
Piatkevich, K.D.5
Cuervo, A.M.6
Verkhusha, V.V.7
-
25
-
-
0037168108
-
Unrestricted synaptic growth in spinster-a late endosomal protein implicated in TGF-β-mediated synaptic growth regulation
-
Sweeney, S.T., and G.W. Davis. 2002. Unrestricted synaptic growth in spinster-a late endosomal protein implicated in TGF-β-mediated synaptic growth regulation. Neuron. 36:403-416. http://dx.doi.org/10.1016/S0896-6273(02)01014-0
-
(2002)
Neuron
, vol.36
, pp. 403-416
-
-
Sweeney, S.T.1
Davis, G.W.2
-
26
-
-
79953270683
-
Loss of skywalker reveals synaptic endosomes as sorting stations for synaptic vesicle proteins
-
Uytterhoeven, V., S. Kuenen, J. Kasprowicz, K. Miskiewicz, and P. Verstreken. 2011. Loss of skywalker reveals synaptic endosomes as sorting stations for synaptic vesicle proteins. Cell. 145:117-132. http://dx.doi.org/10.1016/j.cell.2011.02.039
-
(2011)
Cell
, vol.145
, pp. 117-132
-
-
Uytterhoeven, V.1
Kuenen, S.2
Kasprowicz, J.3
Miskiewicz, K.4
Verstreken, P.5
-
27
-
-
51649083468
-
Recombineering-mediated tagging of Drosophila genomic constructs for in vivo localization and acute protein inactivation
-
Venken, K.J., J. Kasprowicz, S. Kuenen, J. Yan, B.A. Hassan, and P. Verstreken. 2008. Recombineering-mediated tagging of Drosophila genomic constructs for in vivo localization and acute protein inactivation. Nucleic Acids Res. 36:e114. http://dx.doi.org/10.1093/nar/gkn486
-
(2008)
Nucleic Acids Res
, vol.36
-
-
Venken, K.J.1
Kasprowicz, J.2
Kuenen, S.3
Yan, J.4
Hassan, B.A.5
Verstreken, P.6
-
28
-
-
84934441648
-
FM 1-43 labeling of synaptic vesicle pools at the Drosophila neuromuscular junction
-
Verstreken, P., T. Ohyama, and H.J. Bellen. 2008. FM 1-43 labeling of synaptic vesicle pools at the Drosophila neuromuscular junction. Methods Mol.Biol. 440:349-369. http://dx.doi.org/10.1007/978-1-59745-178-9_26
-
(2008)
Methods Mol.Biol
, vol.440
, pp. 349-369
-
-
Verstreken, P.1
Ohyama, T.2
Bellen, H.J.3
-
29
-
-
67651124954
-
Tweek, an evolutionarily conserved protein, is required for synaptic vesicle recycling
-
Verstreken, P., T. Ohyama, C. Haueter, R.L. Habets, Y.Q. Lin, L.E. Swan, C.V. Ly, K.J. Venken, P. De Camilli, and H.J. Bellen. 2009. Tweek, an evolutionarily conserved protein, is required for synaptic vesicle recycling.Neuron. 63:203-215. http://dx.doi.org/10.1016/j.neuron.2009.06.017
-
(2009)
Neuron
, vol.63
, pp. 203-215
-
-
Verstreken, P.1
Ohyama, T.2
Haueter, C.3
Habets, R.L.4
Lin, Y.Q.5
Swan, L.E.6
Ly, C.V.7
Venken, K.J.8
De Camilli, P.9
Bellen, H.J.10
-
30
-
-
0037598589
-
Role of Drosophila Rab5 during endosomal trafficking at the synapse and evoked neurotransmitter release
-
Wucherpfennig, T., M. Wilsch-Bräuninger, and M. González-Gaitán. 2003. Role of Drosophila Rab5 during endosomal trafficking at the synapse and evoked neurotransmitter release. J. Cell Biol. 161:609-624. http://dx.doi.org/10.1083/jcb.200211087
-
(2003)
J. Cell Biol
, vol.161
, pp. 609-624
-
-
Wucherpfennig, T.1
Wilsch-Bräuninger, M.2
González-Gaitán, M.3
-
32
-
-
0025516434
-
A cysteine-string protein is expressed in retina and brain of Drosophila
-
Zinsmaier, K.E., A. Hofbauer, G. Heimbeck, G.O. Pflugfelder, S. Buchner, and E. Buchner. 1990. A cysteine-string protein is expressed in retina and brain of Drosophila. J. Neurogenet. 7:15-29. http://dx.doi.org/10.3109/01677069009084150
-
(1990)
J. Neurogenet
, vol.7
, pp. 15-29
-
-
Zinsmaier, K.E.1
Hofbauer, A.2
Heimbeck, G.3
Pflugfelder, G.O.4
Buchner, S.5
Buchner, E.6
|