-
1
-
-
19444377129
-
Lifting the lid on Pandora's box: the Bardet-Biedl syndrome
-
Beales P.L. Lifting the lid on Pandora's box: the Bardet-Biedl syndrome. Curr. Opin. Genet. Dev. 15 (2005) 315-323
-
(2005)
Curr. Opin. Genet. Dev.
, vol.15
, pp. 315-323
-
-
Beales, P.L.1
-
2
-
-
33749054088
-
Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport
-
Blacque O.E., and Leroux M.R. Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. Cell. Mol. Life Sci. 63 (2006) 2145-2161
-
(2006)
Cell. Mol. Life Sci.
, vol.63
, pp. 2145-2161
-
-
Blacque, O.E.1
Leroux, M.R.2
-
3
-
-
34249978500
-
Bardet-Biedl syndrome: beyond the cilium
-
Tobin J.L., and Beales P.L. Bardet-Biedl syndrome: beyond the cilium. Pediatr. Nephrol. 22 (2007) 926-936
-
(2007)
Pediatr. Nephrol.
, vol.22
, pp. 926-936
-
-
Tobin, J.L.1
Beales, P.L.2
-
4
-
-
0142104970
-
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
-
Ansley S.J., Badano J.L., Blacque O.E., Hill J., Hoskins B.E., Leitch C.C., Kim J.C., Ross A.J., Eichers E.R., Teslovich T.M., Mah A.K., Johnsen R.C., Cavender J.C., Lewis R.A., Leroux M.R., Beales P.L., and Katsanis N. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425 (2003) 628-633
-
(2003)
Nature
, vol.425
, pp. 628-633
-
-
Ansley, S.J.1
Badano, J.L.2
Blacque, O.E.3
Hill, J.4
Hoskins, B.E.5
Leitch, C.C.6
Kim, J.C.7
Ross, A.J.8
Eichers, E.R.9
Teslovich, T.M.10
Mah, A.K.11
Johnsen, R.C.12
Cavender, J.C.13
Lewis, R.A.14
Leroux, M.R.15
Beales, P.L.16
Katsanis, N.17
-
5
-
-
3042738924
-
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport
-
Blacque O.E., Reardon M.J., Li C., McCarthy J., Mahjoub M.R., Ansley S.J., Badano J.L., Mah A.K., Beales P.L., Davidson W.S., Johnsen R.C., Audeh M., Plasterk R.H., Baillie D.L., Katsanis N., Quarmby L.M., Wicks S.R., and Leroux M.R. Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes Dev. 18 (2004) 1630-1642
-
(2004)
Genes Dev.
, vol.18
, pp. 1630-1642
-
-
Blacque, O.E.1
Reardon, M.J.2
Li, C.3
McCarthy, J.4
Mahjoub, M.R.5
Ansley, S.J.6
Badano, J.L.7
Mah, A.K.8
Beales, P.L.9
Davidson, W.S.10
Johnsen, R.C.11
Audeh, M.12
Plasterk, R.H.13
Baillie, D.L.14
Katsanis, N.15
Quarmby, L.M.16
Wicks, S.R.17
Leroux, M.R.18
-
6
-
-
4444291840
-
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome
-
Fan Y., Esmail M.A., Ansley S.J., Blacque O.E., Boroevich K., Ross A.J., Moore S.J., Badano J.L., May-Simera H., Compton D.S., Green J.S., Lewis R.A., van Haelst M.M., Parfrey P.S., Baillie D.L., Beales P.L., Katsanis N., Davidson W.S., and Leroux M.R. Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nat. Genet. 36 (2004) 989-993
-
(2004)
Nat. Genet.
, vol.36
, pp. 989-993
-
-
Fan, Y.1
Esmail, M.A.2
Ansley, S.J.3
Blacque, O.E.4
Boroevich, K.5
Ross, A.J.6
Moore, S.J.7
Badano, J.L.8
May-Simera, H.9
Compton, D.S.10
Green, J.S.11
Lewis, R.A.12
van Haelst, M.M.13
Parfrey, P.S.14
Baillie, D.L.15
Beales, P.L.16
Katsanis, N.17
Davidson, W.S.18
Leroux, M.R.19
-
7
-
-
20244381625
-
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression
-
Kim J.C., Badano J.L., Sibold S., Esmail M.A., Hill J., Hoskins B.E., Leitch C.C., Venner K., Ansley S.J., Ross A.J., Leroux M.R., Katsanis N., and Beales P.L. The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Nat. Genet. 36 (2004) 462-470
-
(2004)
Nat. Genet.
, vol.36
, pp. 462-470
-
-
Kim, J.C.1
Badano, J.L.2
Sibold, S.3
Esmail, M.A.4
Hill, J.5
Hoskins, B.E.6
Leitch, C.C.7
Venner, K.8
Ansley, S.J.9
Ross, A.J.10
Leroux, M.R.11
Katsanis, N.12
Beales, P.L.13
-
8
-
-
34250012834
-
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
-
Nachury M.V., Loktev A.V., Zhang Q., Westlake C.J., Peranen J., Merdes A., Slusarski D.C., Scheller R.H., Bazan J.F., Sheffield V.C., and Jackson P.K. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 129 (2007) 1201-1213
-
(2007)
Cell
, vol.129
, pp. 1201-1213
-
-
Nachury, M.V.1
Loktev, A.V.2
Zhang, Q.3
Westlake, C.J.4
Peranen, J.5
Merdes, A.6
Slusarski, D.C.7
Scheller, R.H.8
Bazan, J.F.9
Sheffield, V.C.10
Jackson, P.K.11
-
9
-
-
4143115620
-
Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)
-
Chiang A.P., Nishimura D., Searby C., Elbedour K., Carmi R., Ferguson A.L., Secrist J., Braun T., Casavant T., Stone E.M., and Sheffield V.C. Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). Am. J. Hum. Genet. 75 (2004) 475-484
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 475-484
-
-
Chiang, A.P.1
Nishimura, D.2
Searby, C.3
Elbedour, K.4
Carmi, R.5
Ferguson, A.L.6
Secrist, J.7
Braun, T.8
Casavant, T.9
Stone, E.M.10
Sheffield, V.C.11
-
11
-
-
0037175056
-
Di-Ras, a distinct subgroup of ras family GTPases with unique biochemical properties
-
Kontani K., Tada M., Ogawa T., Okai T., Saito K., Araki Y., and Katada T. Di-Ras, a distinct subgroup of ras family GTPases with unique biochemical properties. J. Biol. Chem. 277 (2002) 41070-41078
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 41070-41078
-
-
Kontani, K.1
Tada, M.2
Ogawa, T.3
Okai, T.4
Saito, K.5
Araki, Y.6
Katada, T.7
-
12
-
-
0032834401
-
A novel ADP-ribosylation like factor (ARL-6), interacts with the protein-conducting channel SEC61beta subunit
-
Ingley E., Williams J.H., Walker C.E., Tsai S., Colley S., Sayer M.S., Tilbrook P.A., Sarna M., Beaumont J.G., and Klinken S.P. A novel ADP-ribosylation like factor (ARL-6), interacts with the protein-conducting channel SEC61beta subunit. FEBS Lett. 459 (1999) 69-74
-
(1999)
FEBS Lett.
, vol.459
, pp. 69-74
-
-
Ingley, E.1
Williams, J.H.2
Walker, C.E.3
Tsai, S.4
Colley, S.5
Sayer, M.S.6
Tilbrook, P.A.7
Sarna, M.8
Beaumont, J.G.9
Klinken, S.P.10
-
13
-
-
16644370412
-
Human RAS superfamily proteins and related GTPases
-
Colicelli J. Human RAS superfamily proteins and related GTPases. Sci. STKE 2004 (2004) RE13
-
(2004)
Sci. STKE
, vol.2004
-
-
Colicelli, J.1
-
14
-
-
0025310575
-
Refined crystal structure of the triphosphate conformation of H-ras p21 at 1.35 Å resolution: implications for the mechanism of GTP hydrolysis
-
Pai E.F., Krengel U., Petsko G.A., Goody R.S., Kabsch W., and Wittinghofer A. Refined crystal structure of the triphosphate conformation of H-ras p21 at 1.35 Å resolution: implications for the mechanism of GTP hydrolysis. EMBO J. 9 (1990) 2351-2359
-
(1990)
EMBO J.
, vol.9
, pp. 2351-2359
-
-
Pai, E.F.1
Krengel, U.2
Petsko, G.A.3
Goody, R.S.4
Kabsch, W.5
Wittinghofer, A.6
-
15
-
-
0035834388
-
The guanine nucleotide-binding switch in three dimensions
-
Vetter I.R., and Wittinghofer A. The guanine nucleotide-binding switch in three dimensions. Science 294 (2001) 1299-1304
-
(2001)
Science
, vol.294
, pp. 1299-1304
-
-
Vetter, I.R.1
Wittinghofer, A.2
-
16
-
-
0000913086
-
A fast algorithm for rendering space-filling molecule pictures
-
Bacon D., and Anderson W.F. A fast algorithm for rendering space-filling molecule pictures. J. Mol. Graph. 6 (1988) 219-220
-
(1988)
J. Mol. Graph.
, vol.6
, pp. 219-220
-
-
Bacon, D.1
Anderson, W.F.2
-
17
-
-
0026244229
-
Molscript-a program to produce both detailed and schematic plots of protein structures
-
Kraulis P.J. Molscript-a program to produce both detailed and schematic plots of protein structures. J. Appl. Crystallogr. 24 (1991) 946-950
-
(1991)
J. Appl. Crystallogr.
, vol.24
, pp. 946-950
-
-
Kraulis, P.J.1
|