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Items: 1 to 20 of 99

1.

Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling.

Wiens CJ, Tong Y, Esmail MA, Oh E, Gerdes JM, Wang J, Tempel W, Rattner JB, Katsanis N, Park HW, Leroux MR.

J Biol Chem. 2010 May 21;285(21):16218-30. doi: 10.1074/jbc.M109.070953. Epub 2010 Mar 5.

2.

Biochemical characterization of missense mutations in the Arf/Arl-family small GTPase Arl6 causing Bardet-Biedl syndrome.

Kobayashi T, Hori Y, Ueda N, Kajiho H, Muraoka S, Shima F, Kataoka T, Kontani K, Katada T.

Biochem Biophys Res Commun. 2009 Apr 10;381(3):439-42. doi: 10.1016/j.bbrc.2009.02.087. Epub 2009 Feb 21.

PMID:
19236846
3.

Structural basis for membrane targeting of the BBSome by ARL6.

Mourão A, Nager AR, Nachury MV, Lorentzen E.

Nat Struct Mol Biol. 2014 Dec;21(12):1035-41. doi: 10.1038/nsmb.2920. Epub 2014 Nov 17.

4.

The intraflagellar transport protein IFT27 promotes BBSome exit from cilia through the GTPase ARL6/BBS3.

Liew GM, Ye F, Nager AR, Murphy JP, Lee JS, Aguiar M, Breslow DK, Gygi SP, Nachury MV.

Dev Cell. 2014 Nov 10;31(3):265-78. doi: 10.1016/j.devcel.2014.09.004. Epub 2014 Oct 30.

5.

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.

Zhang Q, Nishimura D, Seo S, Vogel T, Morgan DA, Searby C, Bugge K, Stone EM, Rahmouni K, Sheffield VC.

Proc Natl Acad Sci U S A. 2011 Dec 20;108(51):20678-83. doi: 10.1073/pnas.1113220108. Epub 2011 Dec 2.

6.

The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.

Jin H, White SR, Shida T, Schulz S, Aguiar M, Gygi SP, Bazan JF, Nachury MV.

Cell. 2010 Jun 25;141(7):1208-19. doi: 10.1016/j.cell.2010.05.015.

7.

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

Chiang AP, Nishimura D, Searby C, Elbedour K, Carmi R, Ferguson AL, Secrist J, Braun T, Casavant T, Stone EM, Sheffield VC.

Am J Hum Genet. 2004 Sep;75(3):475-84. Epub 2004 Jul 16.

8.

Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.

Su X, Driscoll K, Yao G, Raed A, Wu M, Beales PL, Zhou J.

Hum Mol Genet. 2014 Oct 15;23(20):5441-51. doi: 10.1093/hmg/ddu267. Epub 2014 Jun 16.

9.

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

Fan Y, Esmail MA, Ansley SJ, Blacque OE, Boroevich K, Ross AJ, Moore SJ, Badano JL, May-Simera H, Compton DS, Green JS, Lewis RA, van Haelst MM, Parfrey PS, Baillie DL, Beales PL, Katsanis N, Davidson WS, Leroux MR.

Nat Genet. 2004 Sep;36(9):989-93. Epub 2004 Aug 15.

PMID:
15314642
10.

The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.

Chamling X, Seo S, Searby CC, Kim G, Slusarski DC, Sheffield VC.

PLoS Genet. 2014 Feb 13;10(2):e1004083. doi: 10.1371/journal.pgen.1004083. eCollection 2014 Feb.

11.

Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform.

Pretorius PR, Baye LM, Nishimura DY, Searby CC, Bugge K, Yang B, Mullins RF, Stone EM, Sheffield VC, Slusarski DC.

PLoS Genet. 2010 Mar 19;6(3):e1000884. doi: 10.1371/journal.pgen.1000884.

12.

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.

Seo S, Zhang Q, Bugge K, Breslow DK, Searby CC, Nachury MV, Sheffield VC.

PLoS Genet. 2011 Nov;7(11):e1002358. doi: 10.1371/journal.pgen.1002358. Epub 2011 Nov 3.

13.

Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.

Cevik S, Sanders AA, Van Wijk E, Boldt K, Clarke L, van Reeuwijk J, Hori Y, Horn N, Hetterschijt L, Wdowicz A, Mullins A, Kida K, Kaplan OI, van Beersum SE, Man Wu K, Letteboer SJ, Mans DA, Katada T, Kontani K, Ueffing M, Roepman R, Kremer H, Blacque OE.

PLoS Genet. 2013;9(12):e1003977. doi: 10.1371/journal.pgen.1003977. Epub 2013 Dec 5.

14.

Whole-Organism Developmental Expression Profiling Identifies RAB-28 as a Novel Ciliary GTPase Associated with the BBSome and Intraflagellar Transport.

Jensen VL, Carter S, Sanders AA, Li C, Kennedy J, Timbers TA, Cai J, Scheidel N, Kennedy BN, Morin RD, Leroux MR, Blacque OE.

PLoS Genet. 2016 Dec 8;12(12):e1006469. doi: 10.1371/journal.pgen.1006469. eCollection 2016 Dec.

15.

Expression of ADP-ribosylation factor (ARF)-like protein 6 during mouse embryonic development.

Takada T, Iida K, Sasaki H, Taira M, Kimura H.

Int J Dev Biol. 2005;49(7):891-4.

16.

Crystal structure of the small GTPase Arl6/BBS3 from Trypanosoma brucei.

Hemsworth GR, Price HP, Smith DF, Wilson KS.

Protein Sci. 2013 Feb;22(2):196-203. doi: 10.1002/pro.2198. Epub 2013 Jan 3.

17.

Basal body proteins regulate Notch signaling through endosomal trafficking.

Leitch CC, Lodh S, Prieto-Echagüe V, Badano JL, Zaghloul NA.

J Cell Sci. 2014 Jun 1;127(Pt 11):2407-19. doi: 10.1242/jcs.130344. Epub 2014 Mar 28.

18.

Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.

Khan S, Ullah I, Irfanullah, Touseef M, Basit S, Khan MN, Ahmad W.

Gene. 2013 Feb 15;515(1):84-8. doi: 10.1016/j.gene.2012.11.023. Epub 2012 Dec 6.

PMID:
23219996
19.

Molecular views of Arf-like small GTPases in cilia and ciliopathies.

Zhang Q, Hu J, Ling K.

Exp Cell Res. 2013 Sep 10;319(15):2316-22. doi: 10.1016/j.yexcr.2013.03.024. Epub 2013 Mar 31. Review.

20.

Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment.

Zhang D, Aravind L.

Cell Cycle. 2012 Oct 15;11(20):3861-75. doi: 10.4161/cc.22068. Epub 2012 Sep 14.

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