-
1
-
-
0029115555
-
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families
-
Alzheimer's Dis. Collab. Group
-
Alzheimer's Dis. Collab. Group. 1995. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nat. Genet. 11:219-22
-
(1995)
Nat. Genet
, vol.11
, pp. 219-222
-
-
-
2
-
-
33745485316
-
The ER-Golgi intermediate compartment (ERGIC): In search of its identity and function
-
Appenzeller-Herzog C, HauriHP. 2006. The ER-Golgi intermediate compartment (ERGIC): In search of its identity and function. J. Cell Sci. 119:2173-83
-
(2006)
J. Cell Sci
, vol.119
, pp. 2173-2183
-
-
Appenzeller-Herzog, C.1
Hauri, H.P.2
-
3
-
-
0026742127
-
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase
-
Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, et al. 1992. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 358:239-42
-
(1992)
Nature
, vol.358
, pp. 239-242
-
-
Attree, O.1
Olivos, I.M.2
Okabe, I.3
Bailey, L.C.4
Nelson, D.L.5
-
4
-
-
37149056344
-
Lack of synapsin I reduces the readily releasable pool of synaptic vesicles at central inhibitory synapses
-
Baldelli P, Fassio A, Valtorta F, Benfenati F. 2007. Lack of synapsin I reduces the readily releasable pool of synaptic vesicles at central inhibitory synapses. J. Neurosci. 27:13520-31
-
(2007)
J. Neurosci
, vol.27
, pp. 13520-13531
-
-
Baldelli, P.1
Fassio, A.2
Valtorta, F.3
Benfenati, F.4
-
5
-
-
70349616273
-
Screen for chemical modulators of autophagy reveals novel therapeutic inhibitors of mTORC1 signaling
-
Balgi AD, Fonseca BD, Donohue E, Tsang TC, Lajoie P, et al. 2009. Screen for chemical modulators of autophagy reveals novel therapeutic inhibitors of mTORC1 signaling. PLoS ONE 4:e7124
-
(2009)
PLoS ONE
, vol.4
-
-
Balgi, A.D.1
Fonseca, B.D.2
Donohue, E.3
Tsang, T.C.4
Lajoie, P.5
-
6
-
-
31844440878
-
Functional genomics reveals genes involved in protein secretion and Golgi organization
-
Bard F, Casano L, Mallabiabarrena A, Wallace E, Saito K, et al. 2006. Functional genomics reveals genes involved in protein secretion and Golgi organization. Nature 439:604-7
-
(2006)
Nature
, vol.439
, pp. 604-607
-
-
Bard, F.1
Casano, L.2
Mallabiabarrena, A.3
Wallace, E.4
Saito, K.5
-
7
-
-
79951870239
-
The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling
-
Berger P, Tersar K, Ballmer-Hofer K, Suter U. 2011. The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling. J. Cell. Mol. Med. 15:307-15
-
(2011)
J. Cell. Mol. Med
, vol.15
, pp. 307-315
-
-
Berger, P.1
Tersar, K.2
Ballmer-Hofer, K.3
Suter, U.4
-
9
-
-
33750344792
-
Coatomer, the coat protein of COPI transport vesicles, discriminates endoplasmic reticulum residents from p24 proteins
-
Bethune J, Kol M, Hoffmann J, Reckmann I, Brugger B, Wieland F. 2006. Coatomer, the coat protein of COPI transport vesicles, discriminates endoplasmic reticulum residents from p24 proteins. Mol. Cell. Biol. 26:8011-21
-
(2006)
Mol. Cell. Biol
, vol.26
, pp. 8011-8021
-
-
Bethune, J.1
Kol, M.2
Hoffmann, J.3
Reckmann, I.4
Brugger, B.5
Wieland, F.6
-
10
-
-
69349094765
-
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
-
Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, et al. 2009. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat. Genet. 41:1032-36
-
(2009)
Nat. Genet
, vol.41
, pp. 1032-1036
-
-
Bielas, S.L.1
Silhavy, J.L.2
Brancati, F.3
Kisseleva, M.V.4
Al-Gazali, L.5
-
11
-
-
79960635284
-
Fighting neurodegeneration with rapamycin: Mechanistic insights
-
Bové J, Martínez-Vicente M, Vila M. 2011. Fighting neurodegeneration with rapamycin: Mechanistic insights. Nat. Rev. Neurosci. 12:437-52
-
(2011)
Nat. Rev. Neurosci
, vol.12
, pp. 437-452
-
-
Bové, J.1
Martínez-Vicente, M.2
Vila, M.3
-
12
-
-
33749128067
-
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-To-Golgi trafficking
-
Boyadjiev SA, Fromme JC, Ben J, Chong SS, Nauta C, et al. 2006. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-To-Golgi trafficking. Nat. Genet. 38:1192-97
-
(2006)
Nat. Genet
, vol.38
, pp. 1192-1197
-
-
Boyadjiev, S.A.1
Fromme, J.C.2
Ben, J.3
Chong, S.S.4
Nauta, C.5
-
13
-
-
79960275945
-
Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion
-
Boyadjiev SA, Kim SD, Hata A, Haldeman-Englert C, Zackai EH, et al. 2011. Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion. Clin. Genet. 80:169-76
-
(2011)
Clin. Genet
, vol.80
, pp. 169-176
-
-
Boyadjiev, S.A.1
Kim, S.D.2
Hata, A.3
Haldeman-Englert, C.4
Zackai, E.H.5
-
14
-
-
53049108504
-
Scyl1, mutated in a recessive form of spinocerebellar neurodegeneration, regulates COPI-mediated retrograde traffic
-
Burman JL, Bourbonniere L, Philie J, Stroh T, Dejgaard SY, et al. 2008. Scyl1, mutated in a recessive form of spinocerebellar neurodegeneration, regulates COPI-mediated retrograde traffic. J. Biol. Chem. 283:22774-86
-
(2008)
J. Biol. Chem
, vol.283
, pp. 22774-22786
-
-
Burman, J.L.1
Bourbonniere, L.2
Philie, J.3
Stroh, T.4
Dejgaard, S.Y.5
-
16
-
-
84856089134
-
Small-molecule proteostasis regulators for protein conformational diseases
-
Calamini B, Silva MC, Madoux F, Hutt DM, Khanna S, et al. 2012. Small-molecule proteostasis regulators for protein conformational diseases. Nat. Chem. Biol. 8:185-96
-
(2012)
Nat. Chem. Biol
, vol.8
, pp. 185-196
-
-
Calamini, B.1
Silva, M.C.2
Madoux, F.3
Hutt, D.M.4
Khanna, S.5
-
17
-
-
50549094090
-
The potential of intracellular antibodies for therapeutic targeting of proteinmisfolding diseases
-
Cardinale A, Biocca S. 2008. The potential of intracellular antibodies for therapeutic targeting of proteinmisfolding diseases. Trends Mol. Med. 14:373-80
-
(2008)
Trends Mol. Med
, vol.14
, pp. 373-380
-
-
Cardinale, A.1
Biocca, S.2
-
18
-
-
0030863352
-
Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis
-
Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, et al. 1997. Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis. Science 277:228-31
-
(1997)
Science
, vol.277
, pp. 228-231
-
-
Carstea, E.D.1
Morris, J.A.2
Coleman, K.G.3
Loftus, S.K.4
Zhang, D.5
-
19
-
-
63449090757
-
Huntingtin as an essential integrator of intracellular vesicular trafficking
-
Caviston JP, Holzbaur EL. 2009. Huntingtin as an essential integrator of intracellular vesicular trafficking. Trends Cell Biol. 19:147-55
-
(2009)
Trends Cell Biol
, vol.19
, pp. 147-155
-
-
Caviston, J.P.1
Holzbaur, E.L.2
-
20
-
-
0025242929
-
Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
-
Cheng SH, Gregory RJ, Marshall J, Paul S, Souza DW, et al. 1990. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63:827-34
-
(1990)
Cell
, vol.63
, pp. 827-834
-
-
Cheng, S.H.1
Gregory, R.J.2
Marshall, J.3
Paul, S.4
Souza, D.W.5
-
21
-
-
33947653114
-
Brain slices as models for neurodegenerative disease and screening platforms to identify novel therapeutics
-
Cho S, Wood A, Bowlby MR. 2007. Brain slices as models for neurodegenerative disease and screening platforms to identify novel therapeutics. Curr. Neuropharmacol. 5:19-33
-
(2007)
Curr. Neuropharmacol
, vol.5
, pp. 19-33
-
-
Cho, S.1
Wood, A.2
Bowlby, M.R.3
-
22
-
-
79953215473
-
Quantitative cell-based protein degradation assays to identify and classify drugs that target the ubiquitin-proteasome system
-
Chou TF, Deshaies RJ. 2011. Quantitative cell-based protein degradation assays to identify and classify drugs that target the ubiquitin-proteasome system. J. Biol. Chem. 286:16546-54
-
(2011)
J. Biol. Chem
, vol.286
, pp. 16546-16554
-
-
Chou, T.F.1
Deshaies, R.J.2
-
23
-
-
23044490771
-
Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network
-
Choudhury R, Diao A, Zhang F, Eisenberg E, Saint-Pol A, et al. 2005. Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network. Mol. Biol. Cell 16:3467-79
-
(2005)
Mol. Biol. Cell
, vol.16
, pp. 3467-3479
-
-
Choudhury, R.1
Diao, A.2
Zhang, F.3
Eisenberg, E.4
Saint-Pol, A.5
-
24
-
-
70349567495
-
Receptor-mediated endocytosis in renal proximal tubule
-
Christensen EI, Verroust PJ, Nielsen R. 2009. Receptor-mediated endocytosis in renal proximal tubule. Pflugers Arch. 458:1039-48
-
(2009)
Pflugers Arch
, vol.458
, pp. 1039-1048
-
-
Christensen, E.I.1
Verroust, P.J.2
Nielsen, R.3
-
25
-
-
67349163727
-
Phosphoinositides and the endocytic pathway
-
Clague MJ, Urbe S, De Lartigue J. 2009. Phosphoinositides and the endocytic pathway. Exp. Cell Res. 315:1627-31
-
(2009)
Exp. Cell Res
, vol.315
, pp. 1627-1631
-
-
Clague, M.J.1
Urbe, S.2
De Lartigue, J.3
-
26
-
-
84855202429
-
Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation
-
Clancy JP, Rowe SM, Accurso FJ, Aitken ML, Amin RS, et al. 2012. Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation. Thorax 67:12-18
-
(2012)
Thorax
, vol.67
, pp. 12-18
-
-
Clancy, J.P.1
Rowe, S.M.2
Accurso, F.J.3
Aitken, M.L.4
Amin, R.S.5
-
27
-
-
77949424084
-
Systems survey of endocytosis by multiparametric image analysis
-
Collinet C, Stoter M, Bradshaw CR, Samusik N, Rink JC, et al. 2010. Systems survey of endocytosis by multiparametric image analysis. Nature 464:243-49
-
(2010)
Nature
, vol.464
, pp. 243-249
-
-
Collinet, C.1
Stoter, M.2
Bradshaw, C.R.3
Samusik, N.4
Rink, J.C.5
-
28
-
-
77149130553
-
Automated microscopy for high-content RNAi screening
-
Conrad C, Gerlich DW. 2010. Automated microscopy for high-content RNAi screening. J. Cell Biol. 188:453-61
-
(2010)
J. Cell Biol
, vol.188
, pp. 453-461
-
-
Conrad, C.1
Gerlich, D.W.2
-
29
-
-
33746533924
-
A-Synuclein blocks ER-Golgi traffic and Rab1 rescues neuron loss in Parkinson's models
-
Cooper AA, Gitler AD, Cashikar A, Haynes CM, Hill KJ, et al. 2006. a-Synuclein blocks ER-Golgi traffic and Rab1 rescues neuron loss in Parkinson's models. Science 313:324-28
-
(2006)
Science
, vol.313
, pp. 324-328
-
-
Cooper, A.A.1
Gitler, A.D.2
Cashikar, A.3
Haynes, C.M.4
Hill, K.J.5
-
30
-
-
77956392186
-
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS)
-
Cox LE, Ferraiuolo L, Goodall EF, Heath PR, Higginbottom A, et al. 2010. Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). PLoS ONE 5:e9872
-
(2010)
PLoS ONE
, vol.5
-
-
Cox, L.E.1
Ferraiuolo, L.2
Goodall, E.F.3
Heath, P.R.4
Higginbottom, A.5
-
31
-
-
82755181717
-
The cellular pathology of lysosomal diseases
-
Cox TM, Cachón-GonzálezMB. 2012. The cellular pathology of lysosomal diseases. J. Pathol. 226:241-54
-
(2012)
J. Pathol
, vol.226
, pp. 241-254
-
-
Cox, T.M.1
Cachón-González, M.B.2
-
32
-
-
79958805251
-
A BLOC-1mutation screen reveals that PLDN is mutated inHermansky-Pudlak syndrome type 9
-
Cullinane AR, Curry JA, Carmona-Rivera C, Summers CG, Ciccone C, et al. 2011. A BLOC-1mutation screen reveals that PLDN is mutated inHermansky-Pudlak syndrome type 9.Am. J. Hum. Genet. 88:778-87
-
(2011)
Am J. Hum. Genet
, vol.88
, pp. 778-787
-
-
Cullinane, A.R.1
Curry, J.A.2
Carmona-Rivera, C.3
Summers, C.G.4
Ciccone, C.5
-
35
-
-
79551516571
-
Dymeclin, the gene underlying dyggve-melchior-clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development
-
Denais C, Dent CL, Southgate L, Hoyle J, DafouD, et al. 2011. Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and Golgi organization and is associated with protein secretion pathways critical in bone development. Hum. Mutat. 32:231-39
-
(2011)
Hum. Mutat
, vol.32
, pp. 231-239
-
-
Denais, C.1
Dent, C.L.2
Southgate, L.3
Hoyle, J.4
Dafou, D.5
-
36
-
-
33745239787
-
Biologically active molecules that reduce polyglutamine aggregation and toxicity
-
Desai UA, Pallos J, Ma AA, Stockwell BR, Thompson LM, et al. 2006. Biologically active molecules that reduce polyglutamine aggregation and toxicity. Hum. Mol. Genet. 15:2114-24
-
(2006)
Hum. Mol. Genet
, vol.15
, pp. 2114-2124
-
-
Desai, U.A.1
Pallos, J.2
Ma, A.A.3
Stockwell, B.R.4
Thompson, L.M.5
-
38
-
-
84865592978
-
Amino acids and mTORC1: From lysosomes to disease
-
Efeyan A, Zoncu R, Sabatini DM. 2012. Amino acids and mTORC1: From lysosomes to disease. Trends Mol. Med. 18:524-33
-
(2012)
Trends Mol. Med
, vol.18
, pp. 524-533
-
-
Efeyan, A.1
Zoncu, R.2
Sabatini, D.M.3
-
39
-
-
65649085175
-
Faciogenital dysplasia protein (FGD1) regulates export of cargo proteins from theGolgi complex via Cdc42 activation
-
Egorov MV, Capestrano M, Vorontsova OA, Di Pentima A, Egorova AV, et al. 2009. Faciogenital dysplasia protein (FGD1) regulates export of cargo proteins from theGolgi complex via Cdc42 activation. Mol. Biol. Cell 20:2413-27
-
(2009)
Mol. Biol. Cell
, vol.20
, pp. 2413-2427
-
-
Egorov, M.V.1
Capestrano, M.2
Vorontsova, O.A.3
Di Pentima, A.4
Egorova, A.V.5
-
40
-
-
73349090611
-
Journeys through theGolgi-Taking stock in a new era
-
Emr S, Glick BS, Linstedt AD, Lippincott-Schwartz J, Luini A, et al. 2009. Journeys through theGolgi-Taking stock in a new era. J. Cell Biol. 187:449-53
-
(2009)
J. Cell Biol
, vol.187
, pp. 449-453
-
-
Emr, S.1
Glick, B.S.2
Linstedt, A.D.3
Lippincott-Schwartz, J.4
Luini, A.5
-
41
-
-
34548210456
-
A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway
-
Erdmann KS, Mao Y, McCrea HJ, Zoncu R, Lee S, et al. 2007. A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway. Dev. Cell 13:377-90
-
(2007)
Dev. Cell
, vol.13
, pp. 377-390
-
-
Erdmann, K.S.1
Mao, Y.2
McCrea, H.J.3
Zoncu, R.4
Lee, S.5
-
42
-
-
29244449301
-
Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3
-
Falc ón-Pérez JM, Nazarian R, Sabatti C, Dell'Angelica EC. 2005. Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3. J. Cell Sci. 118:5243-55
-
(2005)
J. Cell Sci
, vol.118
, pp. 5243-5255
-
-
Falcón-Pérez, J.M.1
Nazarian, R.2
Sabatti, C.3
Dell'Angelica, E.C.4
-
43
-
-
77953593628
-
MAPK signaling to the early secretory pathway revealed by kinase/phosphatase functional screening
-
Farhan H, Wendeler MW, Mitrovic S, Fava E, Silberberg Y, et al. 2010. MAPK signaling to the early secretory pathway revealed by kinase/phosphatase functional screening. J. Cell. Biol. 189:997-1011
-
(2010)
J. Cell. Biol
, vol.189
, pp. 997-1011
-
-
Farhan, H.1
Wendeler, M.W.2
Mitrovic, S.3
Fava, E.4
Silberberg, Y.5
-
44
-
-
79957456437
-
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function
-
Fassio A, Patry L, Congia S, Onofri F, Piton A, et al. 2011. SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. Hum. Mol. Genet. 20:2297-307
-
(2011)
Hum. Mol. Genet
, vol.20
, pp. 2297-2307
-
-
Fassio, A.1
Patry, L.2
Congia, S.3
Onofri, F.4
Piton, A.5
-
45
-
-
80051785915
-
Mislocalization of large ARF-GEFs as a potential mechanism for BFA resistance in COG-Deficient cells
-
Flanagan-Steet H, Johnson S, Smith RD, Bangiyeva J, Lupashin V, Steet R. 2011. Mislocalization of large ARF-GEFs as a potential mechanism for BFA resistance in COG-Deficient cells. Exp. Cell Res. 317:2342-52
-
(2011)
Exp. Cell Res
, vol.317
, pp. 2342-2352
-
-
Flanagan-Steet, H.1
Johnson, S.2
Smith, R.D.3
Bangiyeva, J.4
Lupashin, V.5
Steet, R.6
-
46
-
-
84868567742
-
The hereditary spastic paraplegia protein strumpellin: Characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function
-
Freeman C, Seaman MN, Reid E. 2013. The hereditary spastic paraplegia protein strumpellin: Characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function. Biochim. Biophys. Acta 1832:160-73
-
(2013)
Biochim. Biophys. Acta
, vol.1832
, pp. 160-173
-
-
Freeman, C.1
Seaman, M.N.2
Reid, E.3
-
47
-
-
66449083078
-
ULK1áTG13?FIP200 complex mediates mTOR signaling and is essential for autophagy
-
Ganley IG, Lam du H, Wang J, Ding X, Chen S, Jiang X. 2009. ULK1áTG13?FIP200 complex mediates mTOR signaling and is essential for autophagy. J. Biol. Chem. 284:12297-305
-
(2009)
J. Biol. Chem
, vol.284
, pp. 12297-12305
-
-
Ganley, I.G.1
Lam Du, H.2
Wang, J.3
Ding, X.4
Chen, S.5
Jiang, X.6
-
48
-
-
0032769695
-
Identification of the gene (sedl) causing x-linked spondyloepiphyseal dysplasia tarda
-
Gedeon AK, Colley A, Jamieson R, Thompson EM, Rogers J, et al. 1999. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat. Genet. 22:400-4
-
(1999)
Nat. Genet
, vol.22
, pp. 400-404
-
-
Gedeon, A.K.1
Colley, A.2
Jamieson, R.3
Thompson, E.M.4
Rogers, J.5
-
50
-
-
76249116225
-
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
-
Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, et al. 2010. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am. J. Hum. Genet. 86:185-95
-
(2010)
Am. J. Hum. Genet
, vol.86
, pp. 185-195
-
-
Giannandrea, M.1
Bianchi, V.2
Mignogna, M.L.3
Sirri, A.4
Carrabino, S.5
-
51
-
-
78650146676
-
A disease-relevant high-content screening assay to identify antiinflammatory compounds for use in cystic fibrosis
-
Giddings AM, Maitra R. 2010. A disease-relevant high-content screening assay to identify antiinflammatory compounds for use in cystic fibrosis. J. Biomol. Screen. 15:1204-10
-
(2010)
J. Biomol. Screen
, vol.15
, pp. 1204-1210
-
-
Giddings, A.M.1
Maitra, R.2
-
52
-
-
38349160161
-
The Parkinson's disease protein a-synuclein disrupts cellular Rab homeostasis
-
Gitler AD, Bevis BJ, Shorter J, Strathearn KE, Hamamichi S, et al. 2008. The Parkinson's disease protein a-synuclein disrupts cellular Rab homeostasis. Proc. Natl. Acad. Sci. USA 105:145-50
-
(2008)
Proc. Natl. Acad. Sci. USA
, vol.105
, pp. 145-150
-
-
Gitler, A.D.1
Bevis, B.J.2
Shorter, J.3
Strathearn, K.E.4
Hamamichi, S.5
-
53
-
-
33845760114
-
Automated subcellular location determination and high-Throughput microscopy
-
Glory E, Murphy RF. 2007. Automated subcellular location determination and high-Throughput microscopy. Dev. Cell 12:7-16
-
(2007)
Dev. Cell
, vol.12
, pp. 7-16
-
-
Glory, E.1
Murphy, R.F.2
-
54
-
-
0026088977
-
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
-
Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, et al. 1991. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349:704-6
-
(1991)
Nature
, vol.349
, pp. 704-706
-
-
Goate, A.1
Chartier-Harlin, M.C.2
Mullan, M.3
Brown, J.4
Crawford, F.5
-
55
-
-
84855845987
-
High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase
-
Goldin E, ZhengW, Motabar O, Southall N, Choi JH, et al. 2012. High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase. PLoS ONE 7:e29861
-
(2012)
PLoS ONE
, vol.7
-
-
Goldin, E.1
Zheng, W.2
Motabar, O.3
Southall, N.4
Choi, J.H.5
-
58
-
-
79960652801
-
Molecular chaperones in protein folding and proteostasis
-
Hartl FU, Bracher A, Hayer-Hartl M. 2011. Molecular chaperones in protein folding and proteostasis. Nature 475:324-32
-
(2011)
Nature
, vol.475
, pp. 324-332
-
-
Hartl, F.U.1
Bracher, A.2
Hayer-Hartl, M.3
-
59
-
-
58149374223
-
High-Throughput functional screening for autophagyrelated genes and identification of TM9SF1 as an autophagosome-inducing gene
-
He P, Peng Z, Luo Y, Wang L, Yu P, et al. 2009. High-Throughput functional screening for autophagyrelated genes and identification of TM9SF1 as an autophagosome-inducing gene. Autophagy 5:52-60
-
(2009)
Autophagy
, vol.5
, pp. 52-60
-
-
He, P.1
Peng, Z.2
Luo, Y.3
Wang, L.4
Yu, P.5
-
60
-
-
19944432314
-
Dent disease with mutations in OCRL1
-
Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, et al. 2005. Dent disease with mutations in OCRL1. Am. J. Hum. Genet. 76:260-67
-
(2005)
Am. J. Hum. Genet
, vol.76
, pp. 260-267
-
-
Hoopes Jr., R.R.1
Shrimpton, A.E.2
Knohl, S.J.3
Hueber, P.4
Hoppe, B.5
-
61
-
-
79955415881
-
Suppression of Alzheimer's disease-related phenotypes by expression of heat shock protein 70 in mice
-
Hoshino T, Murao N, Namba T, Takehara M, Adachi H, et al. 2011. Suppression of Alzheimer's disease-related phenotypes by expression of heat shock protein 70 in mice. J. Neurosci. 31:5225-34
-
(2011)
J. Neurosci
, vol.31
, pp. 5225-5234
-
-
Hoshino, T.1
Murao, N.2
Namba, T.3
Takehara, M.4
Adachi, H.5
-
62
-
-
57749116036
-
FGD2, a CDC42-specific exchange factor expressed by antigen-presenting cells, localizes to early endosomes and active membrane ruffles
-
HuberC, Martensson A, BokochGM, NemazeeD, Gavin AL. 2008. FGD2, a CDC42-specific exchange factor expressed by antigen-presenting cells, localizes to early endosomes and active membrane ruffles. J. Biol. Chem. 283:34002-12
-
(2008)
J. Biol. Chem
, vol.283
, pp. 34002-34012
-
-
Huber, C.1
Martensson, A.2
Bokoch, G.M.3
Nemazee, D.4
Gavin, A.L.5
-
63
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
Huntington's Dis Collab. Group
-
Huntington's Dis. Collab. Group. 1993. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-83
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
64
-
-
33745747824
-
Type I collagen in Hsp47-null cells is aggregated in endoplasmic reticulum and deficient in N-propeptide processing and fibrillogenesis
-
Ishida Y, Kubota H, Yamamoto A, Kitamura A, Bächinger HP, Nagata K. 2006. Type I collagen in Hsp47-null cells is aggregated in endoplasmic reticulum and deficient in N-propeptide processing and fibrillogenesis. Mol. Biol. Cell 17:2346-55
-
(2006)
Mol. Biol. Cell
, vol.17
, pp. 2346-2355
-
-
Ishida, Y.1
Kubota, H.2
Yamamoto, A.3
Kitamura, A.4
Bächinger, H.P.5
Nagata, K.6
-
65
-
-
35548972537
-
Congenital disorders of glycosylation: A rapidly expanding disease family
-
Jaeken J, Matthijs G. 2007. Congenital disorders of glycosylation: A rapidly expanding disease family. Annu. Rev. Genomics Hum. Genet. 8:261-78
-
(2007)
Annu. Rev. Genomics Hum. Genet
, vol.8
, pp. 261-278
-
-
Jaeken, J.1
Matthijs, G.2
-
66
-
-
73349091579
-
Role of dysbindin in dopamine receptor trafficking and cortical GABA function
-
Ji Y, Yang F, Papaleo F, Wang HX, Gao WJ, et al. 2009. Role of dysbindin in dopamine receptor trafficking and cortical GABA function. Proc. Natl. Acad. Sci. USA 106:19593-98
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 19593-19598
-
-
Ji, Y.1
Yang, F.2
Papaleo, F.3
Wang, H.X.4
Gao, W.J.5
-
68
-
-
79954471977
-
Distinct pathogenic processes between Fig4-Deficient motor and sensory neurons
-
Katona I, Zhang X, Bai Y, Shy ME, Guo J, et al. 2011. Distinct pathogenic processes between Fig4-Deficient motor and sensory neurons. Eur. J. Neurosci. 33:1401-10
-
(2011)
Eur. J. Neurosci
, vol.33
, pp. 1401-1410
-
-
Katona, I.1
Zhang, X.2
Bai, Y.3
Shy, M.E.4
Guo, J.5
-
69
-
-
63049113263
-
Defining macropinocytosis
-
Kerr MC, Teasdale RD. 2009. Defining macropinocytosis. Traffic 10:364-71
-
(2009)
Traffic
, vol.10
, pp. 364-371
-
-
Kerr, M.C.1
Teasdale, R.D.2
-
70
-
-
1942486792
-
Treatment with arimoclomol, a coinducer of heat shock proteins, delays disease progression in ALS mice
-
Kieran D, Kalmar B, Dick JR, Riddoch-Contreras J, Burnstock G, Greensmith L. 2004. Treatment with arimoclomol, a coinducer of heat shock proteins, delays disease progression in ALS mice. Nat. Med. 10:402-5
-
(2004)
Nat. Med
, vol.10
, pp. 402-405
-
-
Kieran, D.1
Kalmar, B.2
Dick, J.R.3
Riddoch-Contreras, J.4
Burnstock, G.5
Greensmith, L.6
-
71
-
-
84863230088
-
A Seoul-Fluor-based bioprobe for lipid droplets and its application in image-based high throughput screening
-
Kim E, Lee S, Park SB. 2012. A Seoul-Fluor-based bioprobe for lipid droplets and its application in image-based high throughput screening. Chem. Commun. 48:2331-33
-
(2012)
Chem. Commun
, vol.48
, pp. 2331-2333
-
-
Kim, E.1
Lee, S.2
Park, S.B.3
-
72
-
-
34447330452
-
COG8 deficiency causes new congenital disorder of glycosylation type IIh
-
Kranz C, Ng BG, Sun L, Sharma V, Eklund EA, et al. 2007. COG8 deficiency causes new congenital disorder of glycosylation type IIh. Hum. Mol. Genet. 16:731-41
-
(2007)
Hum. Mol. Genet
, vol.16
, pp. 731-741
-
-
Kranz, C.1
Ng, B.G.2
Sun, L.3
Sharma, V.4
Eklund, E.A.5
-
73
-
-
84863209627
-
Antibody-enabled small-molecule drug discovery
-
Lawson AD. 2012. Antibody-enabled small-molecule drug discovery. Nat. Rev. Drug Discov. 11:519-25
-
(2012)
Nat. Rev. Drug Discov
, vol.11
, pp. 519-525
-
-
Lawson, A.D.1
-
74
-
-
0029150716
-
A familial Alzheimer's disease locus on chromosome 1
-
Levy-Lahad E, Wijsman EM, Nemens E, Anderson L, Goddard KA, et al. 1995. A familial Alzheimer's disease locus on chromosome 1. Science 269:970-73
-
(1995)
Science
, vol.269
, pp. 970-973
-
-
Levy-Lahad, E.1
Wijsman, E.M.2
Nemens, E.3
Anderson, L.4
Goddard, K.A.5
-
75
-
-
0242458219
-
A microscope-based screening platform for large-scale functional protein analysis in intact cells
-
Liebel U, Starkuviene V, Erfle H, Simpson JC, Poustka A, et al. 2003. A microscope-based screening platform for large-scale functional protein analysis in intact cells. FEBS Lett. 554:394-98
-
(2003)
FEBS Lett
, vol.554
, pp. 394-398
-
-
Liebel, U.1
Starkuviene, V.2
Erfle, H.3
Simpson, J.C.4
Poustka, A.5
-
76
-
-
77954898129
-
A genome-wide siRNA screen reveals multiple mTORC1 independent signaling pathways regulating autophagy under normal nutritional conditions
-
Lipinski MM, Hoffman G, Ng A, Zhou W, Py BF, et al. 2010. A genome-wide siRNA screen reveals multiple mTORC1 independent signaling pathways regulating autophagy under normal nutritional conditions. Dev. Cell 18:1041-52
-
(2010)
Dev. Cell
, vol.18
, pp. 1041-1052
-
-
Lipinski, M.M.1
Hoffman, G.2
Ng, A.3
Zhou, W.4
Py, B.F.5
-
77
-
-
84863881234
-
Selective protein degradation in cell signalling
-
Liu H, Urbe S, Clague MJ. 2012. Selective protein degradation in cell signalling. Semin. Cell Dev. Biol. 23:509-14
-
(2012)
Semin. Cell Dev. Biol
, vol.23
, pp. 509-514
-
-
Liu, H.1
Urbe, S.2
Clague, M.J.3
-
78
-
-
40649104165
-
Restoration of lysosomal pH in RPE cells from cultured human and ABCA4-/-mice: Pharmacologic approaches and functional recovery
-
Liu J, LuW, Reigada D, Nguyen J, Laties AM, Mitchell CH. 2008. Restoration of lysosomal pH in RPE cells from cultured human and ABCA4-/-mice: Pharmacologic approaches and functional recovery. Investig. Ophthalmol. Vis. Sci. 49:772-80
-
(2008)
Investig. Ophthalmol. Vis. Sci
, vol.49
, pp. 772-780
-
-
Liu, J.1
Lu, W.2
Reigada, D.3
Nguyen, J.4
Laties, A.M.5
Mitchell, C.H.6
-
79
-
-
13344286321
-
A common molecular basis for three inherited kidney stone diseases
-
Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, et al. 1996. A common molecular basis for three inherited kidney stone diseases. Nature 379:445-49
-
(1996)
Nature
, vol.379
, pp. 445-449
-
-
Lloyd, S.E.1
Pearce, S.H.2
Fisher, S.E.3
Steinmeyer, K.4
Schwappach, B.5
-
80
-
-
0000623605
-
Organic-Aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity
-
Lowe CU, TerreyM, Mac LE. 1952. Organic-Aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity. AMA Am. J. Dis. Child. 83:164-84
-
(1952)
AMA Am J. Dis. Child
, vol.83
, pp. 164-184
-
-
Lowe, C.U.1
Terrey, M.2
Mac, L.E.3
-
81
-
-
79951558394
-
Structural organization of the Golgi apparatus
-
Lowe M. 2011. Structural organization of the Golgi apparatus. Curr. Opin. Cell Biol. 23:85-93
-
(2011)
Curr. Opin. Cell Biol
, vol.23
, pp. 85-93
-
-
Lowe, M.1
-
82
-
-
69949119548
-
Identification and characterization of ambroxol as an enzyme enhancement agent for gaucher disease
-
Maegawa GH, Tropak MB, Buttner JD, Rigat BA, Fuller M, et al. 2009. Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. J. Biol. Chem. 284:23502-16
-
(2009)
J. Biol. Chem
, vol.284
, pp. 23502-23516
-
-
Maegawa, G.H.1
Tropak, M.B.2
Buttner, J.D.3
Rigat, B.A.4
Fuller, M.5
-
83
-
-
1242274389
-
Heat shock protein 70 participates in the neuroprotective response to intracellularly expressed β-Amyloid in neurons
-
Magrane J, Smith RC, Walsh K, Querfurth HW. 2004. Heat shock protein 70 participates in the neuroprotective response to intracellularly expressed β-Amyloid in neurons. J. Neurosci. 24:1700-6
-
(2004)
J. Neurosci
, vol.24
, pp. 1700-1706
-
-
Magrane, J.1
Smith, R.C.2
Walsh, K.3
Querfurth, H.W.4
-
84
-
-
55549137036
-
Structural basis of cargo membrane protein discrimination by the human COPII coat machinery
-
Mancias JD, Goldberg J. 2008. Structural basis of cargo membrane protein discrimination by the human COPII coat machinery. EMBO J. 27:2918-28
-
(2008)
EMBO J.
, vol.27
, pp. 2918-2928
-
-
Mancias, J.D.1
Goldberg, J.2
-
85
-
-
84859901966
-
Genome-wide sirna screen reveals amino acid starvation-induced autophagy requires scocandwac
-
McKnight NC, Jefferies HB, Alemu EA, Saunders RE, Howell M, et al 2012 Genome-wide siRNA screen reveals amino acid starvation-induced autophagy requires EMBOJ. 31:1931-46
-
(2012)
EMBOJ
, vol.31
, pp. 1931-1946
-
-
McKnight, N.C.1
Jefferies, H.B.2
Alemu, E.A.3
Saunders, R.E.4
Howell, M.5
-
86
-
-
0038107403
-
Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients
-
MénaschéG, Feldmann J, Houdusse A, Desaymard C, Fischer A, et al. 2003. Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. Blood 101:2736-42
-
(2003)
Blood
, vol.101
, pp. 2736-2742
-
-
Ménasché, G.1
Feldmann, J.2
Houdusse, A.3
Desaymard, C.4
Fischer, A.5
-
87
-
-
0041526467
-
Multiple cargo binding sites on the COPII subunit Sec24p ensure capture of diverse membrane proteins into transport vesicles
-
Miller EA, Beilharz TH, Malkus PN, Lee MC, Hamamoto S, et al. 2003. Multiple cargo binding sites on the COPII subunit Sec24p ensure capture of diverse membrane proteins into transport vesicles. Cell 114:497-509
-
(2003)
Cell
, vol.114
, pp. 497-509
-
-
Miller, E.A.1
Beilharz, T.H.2
Malkus, P.N.3
Lee, M.C.4
Hamamoto, S.5
-
88
-
-
84862259443
-
Re'cog'nition at the golgi
-
Miller VJ, Ungar D. 2012. Re'COG'nition at the Golgi. Traffic 13:891-97
-
(2012)
Traffic
, vol.13
, pp. 891-897
-
-
Miller, V.J.1
Ungar, D.2
-
89
-
-
10744221460
-
ER-To-Golgi carriers arise through direct en bloc protrusion and multistage maturation of specialized ER exit domains
-
Mironov AA, Mironov AA Jr, Beznoussenko GV, Trucco A, Lupetti P, et al. 2003. ER-To-Golgi carriers arise through direct en bloc protrusion and multistage maturation of specialized ER exit domains. Dev. Cell 5:583-89
-
(2003)
Dev. Cell
, vol.5
, pp. 583-589
-
-
Mironov, A.A.1
Mironov Jr., A.A.2
Beznoussenko, G.V.3
Trucco, A.4
Lupetti, P.5
-
90
-
-
50249175120
-
Chemical and biological approaches synergize to ameliorate protein-folding diseases
-
Mu TW, Ong DS, Wang YJ, Balch WE, Yates JR III, et al. 2008. Chemical and biological approaches synergize to ameliorate protein-folding diseases. Cell 134:769-81
-
(2008)
Cell
, vol.134
, pp. 769-781
-
-
Mu, T.W.1
Ong, D.S.2
Wang, Y.J.3
Balch, W.E.4
Yates III, J.R.5
-
91
-
-
11144243412
-
Modulation of neurodegeneration by molecular chaperones
-
Muchowski PJ, Wacker JL. 2005. Modulation of neurodegeneration by molecular chaperones. Nat. Rev. Neurosci. 6:11-22
-
(2005)
Nat. Rev. Neurosci
, vol.6
, pp. 11-22
-
-
Muchowski, P.J.1
Wacker, J.L.2
-
92
-
-
0034704245
-
Identification of HE1 as the second gene of Niemann-Pick C disease
-
Naureckiene S, Sleat DE, Lackland H, Fensom A, Vanier MT, et al. 2000. Identification of HE1 as the second gene of Niemann-Pick C disease. Science 290:2298-301
-
(2000)
Science
, vol.290
, pp. 2298-2301
-
-
Naureckiene, S.1
Sleat, D.E.2
Lackland, H.3
Fensom, A.4
Vanier, M.T.5
-
93
-
-
73549085595
-
Increased expression of a-synuclein reduces neurotransmitter release by inhibiting synaptic vesicle reclustering after endocytosis
-
Nemani VM, Lu W, Berge V, Nakamura K, Onoa B, et al. 2010. Increased expression of a-synuclein reduces neurotransmitter release by inhibiting synaptic vesicle reclustering after endocytosis. Neuron 65:66-79
-
(2010)
Neuron
, vol.65
, pp. 66-79
-
-
Nemani, V.M.1
Lu, W.2
Berge, V.3
Nakamura, K.4
Onoa, B.5
-
94
-
-
81355149193
-
Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence
-
Okada T, Miyashita M, Fukuhara J, Sugitani M, Ueno T, et al. 2011. Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence. Orphanet J. Rare Dis. 6:78
-
(2011)
Orphanet J. Rare Dis
, vol.6
, pp. 78
-
-
Okada, T.1
Miyashita, M.2
Fukuhara, J.3
Sugitani, M.4
Ueno, T.5
-
95
-
-
82555187810
-
Image-based genome-wide siRNA screen identifies selective autophagy factors
-
Orvedahl A, Sumpter R Jr, Xiao G, Ng A, Zou Z, et al. 2011. Image-based genome-wide siRNA screen identifies selective autophagy factors. Nature 480:113-17
-
(2011)
Nature
, vol.480
, pp. 113-117
-
-
Orvedahl, A.1
Sumpter Jr., R.2
Xiao, G.3
Ng, A.4
Zou, Z.5
-
96
-
-
55849115677
-
Dyggve-melchior-clausen syndrome: Chondrodysplasia resulting from defects in intracellular vesicle traffic
-
Osipovich AB, Jennings JL, Lin Q, Link AJ, Ruley HE. 2008. Dyggve-Melchior-Clausen syndrome: Chondrodysplasia resulting from defects in intracellular vesicle traffic. Proc. Natl. Acad. Sci. USA 105:16171-76
-
(2008)
Proc. Natl. Acad. Sci. USA
, vol.105
, pp. 16171-16176
-
-
Osipovich, A.B.1
Jennings, J.L.2
Lin, Q.3
Link, A.J.4
Ruley, H.E.5
-
97
-
-
77449098166
-
Treating lysosomal storage diseases with pharmacological chaperones: From concept to clinics
-
Parenti G. 2009. Treating lysosomal storage diseases with pharmacological chaperones: From concept to clinics. EMBO Mol. Med. 1:268-79
-
(2009)
EMBO Mol. Med
, vol.1
, pp. 268-279
-
-
Parenti, G.1
-
98
-
-
70350690698
-
Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation
-
Paesold-Burda P, Maag C, Troxler H, Foulquier F, Kleinert P, et al. 2009. Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. Hum. Mol. Genet. 18:4350-56
-
(2009)
Hum. Mol. Genet
, vol.18
, pp. 4350-4356
-
-
Paesold-Burda, P.1
Maag, C.2
Troxler, H.3
Foulquier, F.4
Kleinert, P.5
-
99
-
-
27844491492
-
Current and emerging therapies for the lysosomal storage disorders
-
Pastores GM, Barnett NL. 2005. Current and emerging therapies for the lysosomal storage disorders. Expert Opin. Emerg. Drugs 10:891-902
-
(2005)
Expert Opin. Emerg. Drugs
, vol.10
, pp. 891-902
-
-
Pastores, G.M.1
Barnett, N.L.2
-
100
-
-
34547753513
-
Miglustat for treatment ofNiemann-Pick C disease: A randomised controlled study
-
Patterson MC, Vecchio D, PradyH, Abel L, Wraith JE. 2007. Miglustat for treatment ofNiemann-Pick C disease: A randomised controlled study. Lancet Neurol. 6:765-72
-
(2007)
Lancet Neurol
, vol.6
, pp. 765-772
-
-
Patterson, M.C.1
Vecchio, D.2
Prady, H.3
Abel, L.4
Wraith, J.E.5
-
101
-
-
24644464284
-
Small-molecule correctors of defective-F508-CFTR cellular processing identified by high-Throughput screening
-
Pedemonte N, Lukacs GL, Du K, Caci E, Zegarra-Moran O, et al. 2005. Small-molecule correctors of defective-F508-CFTR cellular processing identified by high-Throughput screening. J. Clin. Investig. 115:2564-71
-
(2005)
J. Clin. Investig
, vol.115
, pp. 2564-2571
-
-
Pedemonte, N.1
Lukacs, G.L.2
Du, K.3
Caci, E.4
Zegarra-Moran, O.5
-
102
-
-
21844440569
-
Genome-wide analysis of human kinases in clathrin-And caveolae/raft-mediated endocytosis
-
Pelkmans L, Fava E, GrabnerH, HannusM, Habermann B, et al. 2005. Genome-wide analysis of human kinases in clathrin-And caveolae/raft-mediated endocytosis. Nature 436:78-86
-
(2005)
Nature
, vol.436
, pp. 78-86
-
-
Pelkmans, L.1
Fava, E.2
Grabner, H.3
Hannus, M.4
Habermann, B.5
-
103
-
-
0031826012
-
Three distinct steps in transport of vesicular stomatitis virus glycoprotein from the ER to the cell surface in vivo with differential sensitivities to GTPGTP
-
Pepperkok R, LoweM, Burke B, Kreis TE. 1998. Three distinct steps in transport of vesicular stomatitis virus glycoprotein from the ER to the cell surface in vivo with differential sensitivities to GTPGTP? S. J. Cell Sci. 111:1877-88
-
(1998)
S. J. Cell Sci
, vol.111
, pp. 1877-1888
-
-
Pepperkok, R.1
Lowe, M.2
Burke, B.3
Kreis, T.E.4
-
104
-
-
0027220591
-
Β-COP is essential for biosynthetic membrane transport from the endoplasmic reticulum to the Golgi complex in vivo
-
Pepperkok R, Scheel J, Horstmann H, Hauri HP, Griffiths G, Kreis TE 1993. β-COP is essential for biosynthetic membrane transport from the endoplasmic reticulum to the Golgi complex in vivo. Cell 74:71-82
-
(1993)
Cell
, vol.74
, pp. 71-82
-
-
Pepperkok, R.1
Scheel, J.2
Horstmann, H.3
Hauri, H.P.4
Griffiths, G.5
Kreis, T.E.6
-
105
-
-
1242353099
-
A screen for drugs that protect against the cytotoxicity of polyglutamine-expanded androgen receptor
-
Piccioni F, Roman BR, Fischbeck KH, Taylor JP. 2004. A screen for drugs that protect against the cytotoxicity of polyglutamine-expanded androgen receptor. Hum. Mol. Genet. 13:437-46
-
(2004)
Hum. Mol. Genet
, vol.13
, pp. 437-446
-
-
Piccioni, F.1
Roman, B.R.2
Fischbeck, K.H.3
Taylor, J.P.4
-
106
-
-
22944475536
-
Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5
-
Picollo A, Pusch M. 2005. Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5. Nature 436:420-23
-
(2005)
Nature
, vol.436
, pp. 420-423
-
-
Picollo, A.1
Pusch, M.2
-
107
-
-
0242657586
-
A rapid cellular FRET assay of polyglutamine aggregation identifies a novel inhibitor
-
Pollitt SK, Pallos J, Shao J, Desai UA, Ma AA, et al. 2003. A rapid cellular FRET assay of polyglutamine aggregation identifies a novel inhibitor. Neuron 40:685-94
-
(2003)
Neuron
, vol.40
, pp. 685-694
-
-
Pollitt, S.K.1
Pallos, J.2
Shao, J.3
Desai, U.A.4
Ma, A.A.5
-
108
-
-
67349206148
-
The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts
-
Porto C, Cardone M, Fontana F, Rossi B, Tuzzi MR, et al. 2009. The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts. Mol. Ther. 17:964-71
-
(2009)
Mol. Ther
, vol.17
, pp. 964-971
-
-
Porto, C.1
Cardone, M.2
Fontana, F.3
Rossi, B.4
Tuzzi, M.R.5
-
109
-
-
48649101763
-
A traffic-Activated Golgibased signalling circuit coordinates the secretory pathway
-
Pulvirenti T, Giannotta M, Capestrano M, Capitani M, Pisanu A, et al. 2008. A traffic-Activated Golgibased signalling circuit coordinates the secretory pathway. Nat. Cell Biol. 10:912-22
-
(2008)
Nat. Cell Biol
, vol.10
, pp. 912-922
-
-
Pulvirenti, T.1
Giannotta, M.2
Capestrano, M.3
Capitani, M.4
Pisanu, A.5
-
110
-
-
84855173329
-
Congenital dyserythropoietic anemia type II: Molecular analysis and expression of the SEC23B gene
-
Punzo F, Bertoli-Avella AM, Scianguetta S, Della Ragione F, Casale M, et al. 2011. Congenital dyserythropoietic anemia type II: Molecular analysis and expression of the SEC23B gene. Orphanet J. Rare Dis. 6:89
-
(2011)
Orphanet J. Rare Dis
, vol.6
, pp. 89
-
-
Punzo, F.1
Bertoli-Avella, A.M.2
Scianguetta, S.3
Della Ragione, F.4
Casale, M.5
-
111
-
-
78649704325
-
Autophagy and metabolism
-
Rabinowitz JD, White E. 2010. Autophagy and metabolism. Science 330:1344-48
-
(2010)
Science
, vol.330
, pp. 1344-1348
-
-
Rabinowitz, J.D.1
White, E.2
-
112
-
-
80455162465
-
A CFTR potentiator in patients with cystic fibrosis and the G551D mutation
-
Ramsey BW, Davies J, McElvaney NG, Tullis E, Bell SC, et al. 2011. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N. Engl. J. Med. 365:1663-72
-
(2011)
N. Engl. J. Med
, vol.365
, pp. 1663-1672
-
-
Ramsey, B.W.1
Davies, J.2
McElvaney, N.G.3
Tullis, E.4
Bell, S.C.5
-
114
-
-
78149475088
-
Regulation of mammalian autophagy in physiology and pathophysiology
-
Ravikumar B, Sarkar S, Davies JE, FutterM, Garcia-Arencibia M, et al. 2010. Regulation of mammalian autophagy in physiology and pathophysiology. Physiol. Rev. 90:1383-435
-
(2010)
Physiol. Rev
, vol.90
, pp. 1383-1435
-
-
Ravikumar, B.1
Sarkar, S.2
Davies, J.E.3
Futter, M.4
Garcia-Arencibia, M.5
-
115
-
-
77951234323
-
Chemical inducers of autophagy that enhance the clearance of mutant proteins in neurodegenerative diseases
-
Renna M, Jimenez-Sanchez M, Sarkar S, Rubinsztein DC. 2010. Chemical inducers of autophagy that enhance the clearance of mutant proteins in neurodegenerative diseases. J. Biol. Chem. 285:11061-67
-
(2010)
J. Biol. Chem
, vol.285
, pp. 11061-11067
-
-
Renna, M.1
Jimenez-Sanchez, M.2
Sarkar, S.3
Rubinsztein, D.C.4
-
116
-
-
84865082850
-
Spg20-/-mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling
-
Renvoise B, Stadler J, Singh R, Bakowska JC, Blackstone C. 2012. Spg20-/-mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling. Hum. Mol. Genet. 21:3604-18
-
(2012)
Hum. Mol. Genet
, vol.21
, pp. 3604-3618
-
-
Renvoise, B.1
Stadler, J.2
Singh, R.3
Bakowska, J.C.4
Blackstone, C.5
-
117
-
-
68749117665
-
Golgi function and dysfunction in the first COG4-Deficient CDG type II patient
-
Reynders E, Foulquier F, Leão Teles E, Quelhas D, Morelle W, et al. 2009. Golgi function and dysfunction in the first COG4-Deficient CDG type II patient. Hum. Mol. Genet. 18:3244-56
-
(2009)
Hum. Mol. Genet
, vol.18
, pp. 3244-3256
-
-
Reynders, E.1
Foulquier, F.2
Leão Teles, E.3
Quelhas, D.4
Morelle, W.5
-
118
-
-
12944284535
-
Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1 2, and 3 have distinct defects in cargo trafficking
-
Richmond B, HuizingM, Knapp J, Koshoffer A, Zhao Y, et al. 2005. Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking. J. Investig. Dermatol. 124:420-27
-
(2005)
J. Investig. Dermatol
, vol.124
, pp. 420-427
-
-
Richmond, B.1
HuizingM Knapp, J.2
Koshoffer, A.3
Zhao, Y.4
-
119
-
-
24144442691
-
Rab conversion as a mechanism of progression from early to late endosomes
-
Rink J, Ghigo E, Kalaidzidis Y, Zerial M. 2005. Rab conversion as a mechanism of progression from early to late endosomes. Cell 122:735-49
-
(2005)
Cell
, vol.122
, pp. 735-749
-
-
Rink, J.1
Ghigo, E.2
Kalaidzidis, Y.3
Zerial, M.4
-
120
-
-
77950620209
-
Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C
-
Roberts RC, Peden AA, Buss F, Bright NA, Latouche M, et al. 2010. Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C. Hum. Mol. Genet. 19:1009-18
-
(2010)
Hum. Mol. Genet
, vol.19
, pp. 1009-1018
-
-
Roberts, R.C.1
Peden, A.A.2
Buss, F.3
Bright, N.A.4
Latouche, M.5
-
121
-
-
0032959590
-
Structural basis for inhibition of theHsp90 molecular chaperone by the antitumor antibiotics radicicol and geldanamycin
-
Roe SM, Prodromou C, O'BrienR, Ladbury JE, PiperPW, PearlLH. 1999. Structural basis for inhibition of theHsp90 molecular chaperone by the antitumor antibiotics radicicol and geldanamycin. J. Med. Chem. 42:260-66
-
(1999)
J. Med. Chem
, vol.42
, pp. 260-266
-
-
Roe, S.M.1
Prodromou, C.2
O'Brien, R.3
Ladbury, J.E.4
Piper, P.W.5
Pearl, L.H.6
-
122
-
-
73949107514
-
Chemical screen to reduce sterol accumulation in Niemann-Pick C disease cells identifies novel lysosomal acid lipase inhibitors
-
Rosenbaum AI, Rujoi M, Huang AY, Du H, Grabowski GA, Maxfield FR. 2009. Chemical screen to reduce sterol accumulation in Niemann-Pick C disease cells identifies novel lysosomal acid lipase inhibitors. Biochim. Biophys. Acta 1791:1155-65
-
(2009)
Biochim. Biophys. Acta
, vol.1791
, pp. 1155-1165
-
-
Rosenbaum, A.I.1
Rujoi, M.2
Huang, A.Y.3
Du, H.4
Grabowski, G.A.5
Maxfield, F.R.6
-
123
-
-
77958494831
-
Cholesterol pathways affected by small molecules that decrease sterol levels in niemann-pick type c mutant cells
-
RujoiM, Pipalia NH, Maxfield FR. 2010. Cholesterol pathways affected by small molecules that decrease sterol levels in Niemann-Pick type C mutant cells. PLoS ONE 5:e12788
-
(2010)
PLoS ONE
, vol.5
-
-
RujoiM Pipalia, N.H.1
Maxfield, F.R.2
-
124
-
-
0037214462
-
Mouse hippocampal organotypic tissue cultures exposed to in vitro ischemia show selective and delayed ca1 damage that is aggravated by glucose
-
Rytter A, Cronberg T, Asztely F, Nemali S, Wieloch T. 2003. Mouse hippocampal organotypic tissue cultures exposed to in vitro ischemia show selective and delayed CA1 damage that is aggravated by glucose. J. Cereb. Blood Flow Metab. 23:23-33
-
(2003)
J. Cereb. Blood Flow Metab
, vol.23
, pp. 23-33
-
-
Rytter, A.1
Cronberg, T.2
Asztely, F.3
Nemali, S.4
Wieloch, T.5
-
125
-
-
69249227502
-
Lysosome biogenesis and lysosomalmembrane proteins: Trafficking meets function
-
Saftig P, Klumperman J. 2009. Lysosome biogenesis and lysosomalmembrane proteins: Trafficking meets function. Nat. Rev. Mol. Cell Biol. 10:623-35
-
(2009)
Nat. Rev. Mol. Cell Biol
, vol.10
, pp. 623-635
-
-
Saftig, P.1
Klumperman, J.2
-
126
-
-
34247161367
-
Trehalose, a novel mtorindependent autophagy enhancer, accelerates the clearance of mutant huntingtin and a-synuclein
-
Sarkar S, Davies JE, Huang Z, Tunnacliffe A, Rubinsztein DC. 2007. Trehalose, a novel mTORindependent autophagy enhancer, accelerates the clearance of mutant huntingtin and a-synuclein. J. Biol. Chem. 282:5641-52
-
(2007)
J. Biol. Chem
, vol.282
, pp. 5641-5652
-
-
Sarkar, S.1
Davies, J.E.2
Huang, Z.3
Tunnacliffe, A.4
Rubinsztein, D.C.5
-
127
-
-
79959886743
-
Complex inhibitory effects of nitric oxide on autophagy
-
Sarkar S, Korolchuk VI, Renna M, Imarisio S, Fleming A, et al. 2011. Complex inhibitory effects of nitric oxide on autophagy. Mol. Cell 43:19-32
-
(2011)
Mol. Cell
, vol.43
, pp. 19-32
-
-
Sarkar, S.1
Korolchuk, V.I.2
Renna, M.3
Imarisio, S.4
Fleming, A.5
-
128
-
-
34248994604
-
Small molecules enhance autophagy and reduce toxicity in Huntington's disease models
-
Sarkar S, PerlsteinEO, Imarisio S, Pineau S, Cordenier A, et al. 2007. Small molecules enhance autophagy and reduce toxicity in Huntington's disease models. Nat. Chem. Biol. 3:331-38
-
(2007)
Nat. Chem. Biol
, vol.3
, pp. 331-338
-
-
Sarkar, S.1
Perlstein, E.O.2
Imarisio, S.3
Pineau, S.4
Cordenier, A.5
-
129
-
-
49749096430
-
Small molecule enhancers of autophagy for neurodegenerative diseases
-
Sarkar S, RubinszteinDC. 2008. Small molecule enhancers of autophagy for neurodegenerative diseases. Mol. Biosyst. 4:895-901
-
(2008)
Mol. Biosyst
, vol.4
, pp. 895-901
-
-
Sarkar, S.1
Rubinsztein, D.C.2
-
130
-
-
65649136884
-
The structure of Atg4B-LC3 complex reveals themechanism ofLC3processing and delipidation during autophagy
-
Satoo K, Noda NN, Kumeta H, Fujioka Y, Mizushima N, et al 2009. The structure of Atg4B-LC3 complex reveals themechanism ofLC3processing and delipidation during autophagy.EMBOJ. 28:1341-50
-
(2009)
EMBOJ
, vol.28
, pp. 1341-1350
-
-
Satoo, K.1
Noda, N.N.2
Kumeta, H.3
Fujioka, Y.4
Mizushima, N.5
-
131
-
-
28044444522
-
The small gtpase rab7 controls the endosomal trafficking and neuritogenic signaling of the nerve growth factor receptor trka
-
Saxena S, Bucci C, Weis J, Kruttgen A. 2005. The small GTPase Rab7 controls the endosomal trafficking and neuritogenic signaling of the nerve growth factor receptor TrkA. J. Neurosci. 25:10930-40
-
(2005)
J. Neurosci
, vol.25
, pp. 10930-10940
-
-
Saxena, S.1
Bucci, C.2
Weis, J.3
Kruttgen, A.4
-
134
-
-
70249145840
-
Neurodegeneration in niemann-pick type c disease and huntington's disease: Impact of defects in membrane trafficking
-
Schweitzer JK, Krivda JP, D'souza-Schorey C. 2009. Neurodegeneration in Niemann-Pick Type C disease and Huntington's disease: Impact of defects in membrane trafficking. Curr. Drug Targets 10:653-65
-
(2009)
Curr. Drug Targets
, vol.10
, pp. 653-665
-
-
Schweitzer, J.K.1
Krivda, J.P.2
D'souza-Schorey, C.3
-
136
-
-
34047171306
-
An RNAi screening platform to identify secretion machinery in mammalian cells
-
Simpson JC, Cetin C, ErfleH, Joggerst B, LiebelU, et al. 2007. An RNAi screening platform to identify secretion machinery in mammalian cells. J. Biotechnol. 129:352-65
-
(2007)
J. Biotechnol
, vol.129
, pp. 352-365
-
-
Simpson, J.C.1
Cetin, C.2
Erfle, H.3
Joggerst, B.4
Liebel, U.5
-
137
-
-
84863205689
-
Genome-wide RNAi screening identifies human proteins with a regulatory function in the early secretory pathway
-
Simpson JC, Joggerst B, Laketa V, Verissimo F, Cetin C, et al. 2012. Genome-wide RNAi screening identifies human proteins with a regulatory function in the early secretory pathway. Nat. Cell Biol. 14:764-74
-
(2012)
Nat. Cell Biol
, vol.14
, pp. 764-774
-
-
Simpson, J.C.1
Joggerst, B.2
Laketa, V.3
Verissimo, F.4
Cetin, C.5
-
138
-
-
23044471011
-
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
-
SkibinskiG, Parkinson NJ, Brown JM, Chakrabarti L, Lloyd SL, et al. 2005. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat. Genet. 37:806-8
-
(2005)
Nat. Genet
, vol.37
, pp. 806-808
-
-
Skibinski, G.1
Parkinson, N.J.2
Brown, J.M.3
Chakrabarti, L.4
Lloyd, S.L.5
-
139
-
-
74849098404
-
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210
-
Smits P, Bolton AD, Funari V, Hong M, Boyden ED, et al. 2010. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N. Engl. J. Med. 362:206-16
-
(2010)
N. Engl. J. Med
, vol.362
, pp. 206-216
-
-
Smits, P.1
Bolton, A.D.2
Funari, V.3
Hong, M.4
Boyden, E.D.5
-
140
-
-
78650056095
-
Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons
-
Soderblom C, Stadler J, Jupille H, Blackstone C, Shupliakov O, Hanna MC. 2010. Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons. Neurogenetics 11:369-78
-
(2010)
Neurogenetics
, vol.11
, pp. 369-378
-
-
Soderblom, C.1
Stadler, J.2
Jupille, H.3
Blackstone, C.4
Shupliakov, O.5
Hanna, M.C.6
-
141
-
-
67949093139
-
On the fate of early endosomes
-
Spang A. 2009. On the fate of early endosomes. Biol. Chem. 390:753-59
-
(2009)
Biol. Chem
, vol.390
, pp. 753-759
-
-
Spang, A.1
-
142
-
-
40949159198
-
Building ?-secretase: The bits and pieces
-
Spasic D, AnnaertW. 2008. Building ?-secretase: The bits and pieces. J. Cell Sci. 121:413-20
-
(2008)
J. Cell Sci
, vol.121
, pp. 413-420
-
-
Spasic, D.1
Annaert, W.2
-
143
-
-
6344222240
-
High-content screeningmicroscopy identifies novel proteins with a putative role in secretory membrane traffic
-
StarkuvieneV, LiebelU, Simpson JC, ErfleH, PoustkaA, et al. 2004. High-content screeningmicroscopy identifies novel proteins with a putative role in secretory membrane traffic. Genome Res. 14:1948-56
-
(2004)
Genome Res
, vol.14
, pp. 1948-1956
-
-
Starkuviene, V.1
Liebel, U.2
Simpson, J.C.3
Erfle, H.4
Poustka, A.5
-
144
-
-
67349135343
-
ESCRT proteins in physiology and disease
-
Stuffers S, Brech A, Stenmark H. 2009. ESCRT proteins in physiology and disease. Exp. Cell Res. 315:1619-26
-
(2009)
Exp. Cell Res
, vol.315
, pp. 1619-1626
-
-
Stuffers, S.1
Brech, A.2
Stenmark, H.3
-
145
-
-
34250173492
-
LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy
-
Sugimoto S, Shiomi K, Yamamoto A, Nishino I, Nonaka I, Ohi T. 2007. LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy. Intern. Med. 46:757-60
-
(2007)
Intern. Med
, vol.46
, pp. 757-760
-
-
Sugimoto, S.1
Shiomi, K.2
Yamamoto, A.3
Nishino, I.4
Nonaka, I.5
Ohi, T.6
-
146
-
-
78650463149
-
Optimization of a yellow fluorescent proteinbased iodide influx high-Throughput screening assay for cystic fibrosis transmembrane conductance regulator (cftr) modulators
-
Sui J, Cotard S, Andersen J, Zhu P, Staunton J, et al. 2010. Optimization of a yellow fluorescent proteinbased iodide influx high-Throughput screening assay for cystic fibrosis transmembrane conductance regulator (CFTR) modulators. Assay Drug Dev. Technol. 8:656-68
-
(2010)
Assay Drug Dev. Technol
, vol.8
, pp. 656-668
-
-
Sui, J.1
Cotard, S.2
Andersen, J.3
Zhu, P.4
Staunton, J.5
-
148
-
-
79952313074
-
Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease
-
Szperl AM, Golachowska MR, Bruinenberg M, Prekeris R, Thunnissen AM, et al. 2011. Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease. J. Pediatr. Gastroenterol. Nutr. 52:307-13
-
(2011)
J. Pediatr. Gastroenterol. Nutr
, vol.52
, pp. 307-313
-
-
Szperl, A.M.1
Golachowska, M.R.2
Bruinenberg, M.3
Prekeris, R.4
Thunnissen, A.M.5
-
149
-
-
54249158324
-
Ubiquitin, the proteasome and protein degradation in neuronal function and dysfunction
-
Tai HC, Schuman EM. 2008. Ubiquitin, the proteasome and protein degradation in neuronal function and dysfunction. Nat. Rev. Neurosci. 9:826-38
-
(2008)
Nat. Rev. Neurosci
, vol.9
, pp. 826-838
-
-
Tai, H.C.1
Schuman, E.M.2
-
150
-
-
1642633757
-
Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease
-
Tanaka M, MachidaY, Niu S, IkedaT, JanaNR, et al. 2004. Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease. Nat. Med. 10:148-54
-
(2004)
Nat. Med
, vol.10
, pp. 148-154
-
-
Tanaka, M.1
Machida, Y.2
Niu, S.3
Ikeda, T.4
Jana, N.R.5
-
151
-
-
57649221135
-
Amyloid precursor protein trafficking, processing, and function
-
Thinakaran G, Koo EH. 2008. Amyloid precursor protein trafficking, processing, and function. J. Biol. Chem. 283:29615-19
-
(2008)
J. Biol. Chem
, vol.283
, pp. 29615-29619
-
-
Thinakaran, G.1
Koo, E.H.2
-
152
-
-
84856112882
-
Diseases in a dish: Modeling human genetic disorders using induced pluripotent cells
-
TiscorniaG, Vivas EL, Izpisua Belmonte JC. 2011. Diseases in a dish: Modeling human genetic disorders using induced pluripotent cells. Nat. Med. 17:1570-76
-
(2011)
Nat. Med
, vol.17
, pp. 1570-1576
-
-
Tiscornia, G.1
Vivas, E.L.2
Izpisua Belmonte, J.C.3
-
154
-
-
0031945551
-
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
-
Town M, Jean G, Cherqui S, Attard M, Forestier L, et al. 1998. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat. Genet. 18:319-24
-
(1998)
Nat. Genet
, vol.18
, pp. 319-324
-
-
Town, M.1
Jean, G.2
Cherqui, S.3
Attard, M.4
Forestier, L.5
-
155
-
-
70349579493
-
The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling
-
TsangHT, Edwards TL, Wang X, Connell JW, Davies RJ, et al. 2009. The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling. Hum. Mol. Genet. 18:3805-21
-
(2009)
Hum. Mol. Genet
, vol.18
, pp. 3805-3821
-
-
Tsang, H.T.1
Edwards, T.L.2
Wang, X.3
Connell, J.W.4
Davies, R.J.5
-
156
-
-
43449099127
-
The amyotrophic lateral sclerosis 8 protein VAPB is cleaved, secreted, and acts as a ligand for Eph receptors
-
Tsuda H, Han SM, Yang Y, Tong C, Lin YQ, et al. 2008. The amyotrophic lateral sclerosis 8 protein VAPB is cleaved, secreted, and acts as a ligand for Eph receptors. Cell 133:963-77
-
(2008)
Cell
, vol.133
, pp. 963-977
-
-
Tsuda, H.1
Han, S.M.2
Yang, Y.3
Tong, C.4
Lin, Y.Q.5
-
157
-
-
77953583994
-
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations
-
Urwin H, Authier A, Nielsen JE, Metcalf D, Powell C, et al. 2010. Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. Hum. Mol. Genet. 19:2228-38
-
(2010)
Hum. Mol. Genet
, vol.19
, pp. 2228-2238
-
-
Urwin, H.1
Authier, A.2
Nielsen, J.E.3
Metcalf, D.4
Powell, C.5
-
158
-
-
51749094612
-
Knockdown of myosin Va isoforms by RNAi as a tool to block melanosome transport in primary human melanocytes
-
Van Gele M, Geusens B, Schmitt AM, Aguilar L, Lambert J. 2008. Knockdown of myosin Va isoforms by RNAi as a tool to block melanosome transport in primary human melanocytes. J. Investig. Dermatol. 128:2474-84
-
(2008)
J. Investig. Dermatol
, vol.128
, pp. 2474-2484
-
-
Van Gele, M.1
Geusens, B.2
Schmitt, A.M.3
Aguilar, L.4
Lambert, J.5
-
159
-
-
73249114731
-
Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770
-
Van Goor F, Hadida S, Grootenhuis PD, Burton B, Cao D, et al. 2009. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc. Natl. Acad. Sci. USA 106:18825-30
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 18825-18830
-
-
Van Goor, F.1
Hadida, S.2
Grootenhuis, P.D.3
Burton, B.4
Cao, D.5
-
160
-
-
33846351654
-
Selective inhibitors of death in mutant huntingtin cells
-
Varma H, Voisine C, DeMarco CT, Cattaneo E, Lo DC, et al. 2007. Selective inhibitors of death in mutant huntingtin cells. Nat. Chem. Biol. 3:99-100
-
(2007)
Nat. Chem. Biol
, vol.3
, pp. 99-100
-
-
Varma, H.1
Voisine, C.2
DeMarco, C.T.3
Cattaneo, E.4
Lo, D.C.5
-
161
-
-
84866759304
-
Sedlin controls the ER export of procollagen by regulating the Sar1 cycle
-
Venditti R, Scanu T, Santoro M, Di Tullio G, Spaar A, et al. 2012. Sedlin controls the ER export of procollagen by regulating the Sar1 cycle. Science 337:1668-72
-
(2012)
Science
, vol.337
, pp. 1668-1672
-
-
Venditti, R.1
Scanu, T.2
Santoro, M.3
Di Tullio, G.4
Spaar, A.5
-
163
-
-
83555163852
-
2011.OCRLcontrols trafficking through early endosomes via PtdIns4,5P2-Dependent regulation of endosomal actin
-
Vicinanza M, Di Campli A, Polishchuk E, Santoro M, Di Tullio G, et al. 2011.OCRLcontrols trafficking through early endosomes via PtdIns4,5P2-Dependent regulation of endosomal actin. EMBO J. 30:4970-85
-
EMBO J.
, vol.30
, pp. 4970-4985
-
-
Vicinanza, M.1
Di Campli, A.2
Polishchuk, E.3
Santoro, M.4
Di Tullio, G.5
-
164
-
-
54549123514
-
Myosin Vb mobilizes recycling endosomes and AMPA receptors for postsynaptic plasticity
-
Wang Z, Edwards JG, Riley N, Provance DWJr, Karcher R, et al. 2008. Myosin Vb mobilizes recycling endosomes and AMPA receptors for postsynaptic plasticity. Cell 135:535-48
-
(2008)
Cell
, vol.135
, pp. 535-548
-
-
Wang, Z.1
Edwards, J.G.2
Riley, N.3
Provance Jr., D.W.4
Karcher, R.5
-
165
-
-
20544471158
-
ER-To-Golgi transport: Form and formation of vesicular and tubular carriers
-
Watson P, Stephens DJ. 2005. ER-To-Golgi transport: Form and formation of vesicular and tubular carriers. Biochim. Biophys. Acta 1744:304-15
-
(2005)
Biochim. Biophys. Acta
, vol.1744
, pp. 304-315
-
-
Watson, P.1
Stephens, D.J.2
-
166
-
-
75049083932
-
A genome-wideRNAinterference screen identifies two novel components of themetazoan secretory pathway
-
Wendler F, Gillingham AK, Sinka R, Rosa-FerreiraC, Gordon DE, et al. 2010. A genome-wideRNAinterference screen identifies two novel components of themetazoan secretory pathway. EMBO J. 29:304-14
-
(2010)
EMBO J.
, vol.29
, pp. 304-314
-
-
Wendler, F.1
Gillingham, A.K.2
Sinka, R.3
Rosa-Ferreira, C.4
Gordon, D.E.5
-
167
-
-
42249106042
-
Novel targets for Huntington's disease in an mTOR-independent autophagy pathway
-
Williams A, Sarkar S, Cuddon P, Ttofi EK, Saiki S, et al. 2008. Novel targets for Huntington's disease in an mTOR-independent autophagy pathway. Nat. Chem. Biol. 4:295-305
-
(2008)
Nat. Chem. Biol
, vol.4
, pp. 295-305
-
-
Williams, A.1
Sarkar, S.2
Cuddon, P.3
Ttofi, E.K.4
Saiki, S.5
-
168
-
-
79551470468
-
The Golgi apparatus: An organelle with multiple complex functions
-
Wilson C, Venditti R, Rega LR, Colanzi A, D'Angelo G, De Matteis MA. 2011. The Golgi apparatus: An organelle with multiple complex functions. Biochem. J. 433:1-9
-
(2011)
Biochem. J.
, vol.433
, pp. 1-9
-
-
Wilson, C.1
Venditti, R.2
Rega, L.R.3
Colanzi, A.4
D'Angelo, G.5
De Matteis, M.A.6
-
169
-
-
79960844736
-
A pharmacogenetic approach to identify mutant forms of a-galactosidase A that respond to a pharmacological chaperone for Fabry disease
-
Wu X, Katz E, Della Valle MC, Mascioli K, Flanagan JJ, et al. 2011. A pharmacogenetic approach to identify mutant forms of a-galactosidase A that respond to a pharmacological chaperone for Fabry disease. Hum. Mutat. 32:965-77
-
(2011)
Hum. Mutat
, vol.32
, pp. 965-977
-
-
Wu, X.1
Katz, E.2
Della Valle, M.C.3
Mascioli, K.4
Flanagan, J.J.5
-
170
-
-
84863519526
-
Structural insights into Atg10-mediated formation of the autophagy-essential Atg12-Atg5 conjugate
-
Yamaguchi M, Noda NN, Yamamoto H, Shima T, Kumeta H, et al. 2012. Structural insights into Atg10-mediated formation of the autophagy-essential Atg12-Atg5 conjugate. Structure 20:1244-54
-
(2012)
Structure
, vol.20
, pp. 1244-1254
-
-
Yamaguchi, M.1
Noda, N.N.2
Yamamoto, H.3
Shima, T.4
Kumeta, H.5
-
171
-
-
0034471359
-
Defective organellar membrane protein trafficking in Ap3b1-Deficient cells
-
Yang W, Li C, Ward DM, Kaplan J, Mansour SL. 2000. Defective organellar membrane protein trafficking in Ap3b1-Deficient cells. J. Cell Sci. 113:4077-86
-
(2000)
J. Cell Sci
, vol.113
, pp. 4077-4086
-
-
Yang, W.1
Li, C.2
Ward, D.M.3
Kaplan, J.4
Mansour, S.L.5
-
172
-
-
84864195891
-
Essential role of RAB27A in determining constitutive human skin color
-
Yoshida-Amano Y, Hachiya A, Ohuchi A, Kobinger GP, Kitahara T, et al. 2012. Essential role of RAB27A in determining constitutive human skin color. PLoS ONE 7:e41160
-
(2012)
PLoS ONE
, vol.7
-
-
Yoshida-Amano, Y.1
Hachiya, A.2
Ohuchi, A.3
Kobinger, G.P.4
Kitahara, T.5
-
174
-
-
32244442749
-
Functional specificity of the mammalian Beclin-Vps34 PI 3-kinase complex in macroautophagy versus endocytosis and lysosomal enzyme trafficking
-
Zeng X, Overmeyer JH, Maltese WA. 2006. Functional specificity of the mammalian Beclin-Vps34 PI 3-kinase complex in macroautophagy versus endocytosis and lysosomal enzyme trafficking. J. Cell Sci. 119:259-70
-
(2006)
J. Cell Sci
, vol.119
, pp. 259-270
-
-
Zeng, X.1
Overmeyer, J.H.2
Maltese, W.A.3
-
175
-
-
84865763232
-
Brefeldin A-inhibited guanine exchange factor 2 regulates filamin A phosphorylation and neuronal migration
-
Zhang J, Neal J, Lian G, Shi B, Ferland RJ, Sheen V. 2012. Brefeldin A-inhibited guanine exchange factor 2 regulates filamin A phosphorylation and neuronal migration. J. Neurosci. 32:12619-29
-
(2012)
J. Neurosci
, vol.32
, pp. 12619-12629
-
-
Zhang, J.1
Neal, J.2
Lian, G.3
Shi, B.4
Ferland, R.J.5
Sheen, V.6
-
176
-
-
0033003760
-
A simple statistical parameter for use in evaluation and validation of high throughput screening assays
-
Zhang JH, Chung TDY, Oldenburg KR. 1999. A simple statistical parameter for use in evaluation and validation of high throughput screening assays. J. Biomol. Screen. 4:67-73
-
(1999)
J. Biomol. Screen
, vol.4
, pp. 67-73
-
-
Zhang, J.H.1
Chung, T.D.Y.2
Oldenburg, K.R.3
-
177
-
-
37649024076
-
Small molecule regulators of autophagy identified by an image-based high-Throughput screen
-
Zhang L, Yu J, Pan H, Hu P, Hao Y, et al. 2007. Small molecule regulators of autophagy identified by an image-based high-Throughput screen. Proc. Natl. Acad. Sci. USA 104:19023-28
-
(2007)
Proc. Natl. Acad. Sci. USA
, vol.104
, pp. 19023-19028
-
-
Zhang, L.1
Yu, J.2
Pan, H.3
Hu, P.4
Hao, Y.5
-
178
-
-
0018942213
-
Mutants of vesicular stomatitis virus blocked at different stages in maturation of the viral glycoprotein
-
Zilberstein A, Snider MD, Porter M, Lodish HF. 1980. Mutants of vesicular stomatitis virus blocked at different stages in maturation of the viral glycoprotein. Cell 21:417-27
-
(1980)
Cell
, vol.21
, pp. 417-427
-
-
Zilberstein, A.1
Snider, M.D.2
Porter, M.3
Lodish, H.F.4
-
179
-
-
84871994423
-
Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease
-
Zimran A, Altarescu G, Elstein D. 2013. Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease. Blood Cells Mol. Dis. 50:134-37
-
(2013)
Blood Cells Mol. Dis
, vol.50
, pp. 134-137
-
-
Zimran, A.1
Altarescu, G.2
Elstein, D.3
-
180
-
-
0035919701
-
Loss of huntingtin-mediated bdnf gene transcription in huntington's disease
-
ZuccatoC, Ciammola A, RigamontiD, Leavitt BR, GoffredoD, et al. 2001. Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease. Science 293:493-98
-
(2001)
Science
, vol.293
, pp. 493-498
-
-
Zuccato, C.1
Ciammola, A.2
Rigamonti, D.3
Leavitt, B.R.4
Goffredo, D.5
|