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Items: 1 to 50 of 54

1.

Membrane retrieval, recycling and release pathways that organise and sculpt the ciliary membrane.

Carter SP, Blacque OE.

Curr Opin Cell Biol. 2019 May 27;59:133-139. doi: 10.1016/j.ceb.2019.04.007. [Epub ahead of print] Review.

PMID:
31146146
2.

CiliaCarta: An integrated and validated compendium of ciliary genes.

van Dam TJP, Kennedy J, van der Lee R, de Vrieze E, Wunderlich KA, Rix S, Dougherty GW, Lambacher NJ, Li C, Jensen VL, Leroux MR, Hjeij R, Horn N, Texier Y, Wissinger Y, van Reeuwijk J, Wheway G, Knapp B, Scheel JF, Franco B, Mans DA, van Wijk E, Képès F, Slaats GG, Toedt G, Kremer H, Omran H, Szymanska K, Koutroumpas K, Ueffing M, Nguyen TT, Letteboer SJF, Oud MM, van Beersum SEC, Schmidts M, Beales PL, Lu Q, Giles RH, Szklarczyk R, Russell RB, Gibson TJ, Johnson CA, Blacque OE, Wolfrum U, Boldt K, Roepman R, Hernandez-Hernandez V, Huynen MA.

PLoS One. 2019 May 16;14(5):e0216705. doi: 10.1371/journal.pone.0216705. eCollection 2019.

3.

EFHC1, implicated in juvenile myoclonic epilepsy, functions at the cilium and synapse to modulate dopamine signaling.

Loucks CM, Park K, Walker DS, McEwan AH, Timbers TA, Ardiel EL, Grundy LJ, Li C, Johnson JL, Kennedy J, Blacque OE, Schafer W, Rankin CH, Leroux MR.

Elife. 2019 Feb 27;8. pii: e37271. doi: 10.7554/eLife.37271.

4.

Role for intraflagellar transport in building a functional transition zone.

Jensen VL, Lambacher NJ, Li C, Mohan S, Williams CL, Inglis PN, Yoder BK, Blacque OE, Leroux MR.

EMBO Rep. 2018 Dec;19(12). pii: e45862. doi: 10.15252/embr.201845862. Epub 2018 Nov 14.

PMID:
30429209
5.

Intraflagellar Transport Complex A Genes Differentially Regulate Cilium Formation and Transition Zone Gating.

Scheidel N, Blacque OE.

Curr Biol. 2018 Oct 22;28(20):3279-3287.e2. doi: 10.1016/j.cub.2018.08.017. Epub 2018 Oct 4.

PMID:
30293716
6.

Environmental responsiveness of tubulin glutamylation in sensory cilia is regulated by the p38 MAPK pathway.

Kimura Y, Tsutsumi K, Konno A, Ikegami K, Hameed S, Kaneko T, Kaplan OI, Teramoto T, Fujiwara M, Ishihara T, Blacque OE, Setou M.

Sci Rep. 2018 May 30;8(1):8392. doi: 10.1038/s41598-018-26694-w.

7.

Endosome maturation factors Rabenosyn-5/VPS45 and caveolin-1 regulate ciliary membrane and polycystin-2 homeostasis.

Scheidel N, Kennedy J, Blacque OE.

EMBO J. 2018 May 2;37(9). pii: e98248. doi: 10.15252/embj.201798248. Epub 2018 Mar 23.

8.

Rab GTPases in cilium formation and function.

Blacque OE, Scheidel N, Kuhns S.

Small GTPases. 2018 Mar 4;9(1-2):76-94. doi: 10.1080/21541248.2017.1353847. Epub 2017 Oct 26. Review.

9.

Primary Cilium Formation and Ciliary Protein Trafficking Is Regulated by the Atypical MAP Kinase MAPK15 in Caenorhabditis elegans and Human Cells.

Kazatskaya A, Kuhns S, Lambacher NJ, Kennedy JE, Brear AG, McManus GJ, Sengupta P, Blacque OE.

Genetics. 2017 Dec;207(4):1423-1440. doi: 10.1534/genetics.117.300383. Epub 2017 Oct 11.

10.

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Pérez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Mégarbané A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivière JB, Faivre L, Thauvin-Robinet C.

J Med Genet. 2017 Jun;54(6):371-380. doi: 10.1136/jmedgenet-2016-104436. Epub 2017 Mar 13. Review.

11.

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.

12.

Structural and Functional Recovery of Sensory Cilia in C. elegans IFT Mutants upon Aging.

Cornils A, Maurya AK, Tereshko L, Kennedy J, Brear AG, Prahlad V, Blacque OE, Sengupta P.

PLoS Genet. 2016 Dec 1;12(12):e1006325. doi: 10.1371/journal.pgen.1006325. eCollection 2016 Dec.

13.

A Conserved Role for Girdin in Basal Body Positioning and Ciliogenesis.

Nechipurenko IV, Olivier-Mason A, Kazatskaya A, Kennedy J, McLachlan IG, Heiman MG, Blacque OE, Sengupta P.

Dev Cell. 2016 Sep 12;38(5):493-506. doi: 10.1016/j.devcel.2016.07.013.

14.

Cilia Train Spotting.

Kuhns S, Blacque OE.

Dev Cell. 2016 Jun 6;37(5):395-6. doi: 10.1016/j.devcel.2016.05.016.

15.

PACRG, a protein linked to ciliary motility, mediates cellular signaling.

Loucks CM, Bialas NJ, Dekkers MP, Walker DS, Grundy LJ, Li C, Inglis PN, Kida K, Schafer WR, Blacque OE, Jansen G, Leroux MR.

Mol Biol Cell. 2016 Jul 1;27(13):2133-44. doi: 10.1091/mbc.E15-07-0490. Epub 2016 May 18.

16.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.

Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R; UK10K Rare Diseases Group.

Nat Commun. 2016 May 13;7:11491. doi: 10.1038/ncomms11491.

17.

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.

Li C, Jensen VL, Park K, Kennedy J, Garcia-Gonzalo FR, Romani M, De Mori R, Bruel AL, Gaillard D, Doray B, Lopez E, Rivière JB, Faivre L, Thauvin-Robinet C, Reiter JF, Blacque OE, Valente EM, Leroux MR.

PLoS Biol. 2016 Mar 16;14(3):e1002416. doi: 10.1371/journal.pbio.1002416. eCollection 2016 Mar.

18.

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.

Casey JP, Brennan K, Scheidel N, McGettigan P, Lavin PT, Carter S, Ennis S, Dorkins H, Ghali N, Blacque OE, Mc Gee MM, Murphy H, Lynch SA.

Hum Mol Genet. 2016 May 1;25(9):1824-35. doi: 10.1093/hmg/ddw054. Epub 2016 Feb 21.

PMID:
26908619
19.

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.

Sanders AA, de Vrieze E, Alazami AM, Alzahrani F, Malarkey EB, Sorusch N, Tebbe L, Kuhns S, van Dam TJ, Alhashem A, Tabarki B, Lu Q, Lambacher NJ, Kennedy JE, Bowie RV, Hetterschijt L, van Beersum S, van Reeuwijk J, Boldt K, Kremer H, Kesterson RA, Monies D, Abouelhoda M, Roepman R, Huynen MH, Ueffing M, Russell RB, Wolfrum U, Yoder BK, van Wijk E, Alkuraya FS, Blacque OE.

Genome Biol. 2015 Dec 29;16:293. doi: 10.1186/s13059-015-0858-z.

20.

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

Lambacher NJ, Bruel AL, van Dam TJ, Szymańska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Rivière JB, Faivre L, Attié-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE.

Nat Cell Biol. 2016 Jan;18(1):122-31. doi: 10.1038/ncb3273. Epub 2015 Nov 23.

21.

Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling.

Yee LE, Garcia-Gonzalo FR, Bowie RV, Li C, Kennedy JK, Ashrafi K, Blacque OE, Leroux MR, Reiter JF.

PLoS Genet. 2015 Nov 5;11(11):e1005627. doi: 10.1371/journal.pgen.1005627. eCollection 2015 Nov.

22.

Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance.

Jensen VL, Li C, Bowie RV, Clarke L, Mohan S, Blacque OE, Leroux MR.

EMBO J. 2015 Oct 14;34(20):2537-56. doi: 10.15252/embj.201488044. Epub 2015 Sep 21.

23.

Image analysis of Caenorhabditis elegans ciliary transition zone structure, ultrastructure, molecular composition, and function.

Sanders AA, Kennedy J, Blacque OE.

Methods Cell Biol. 2015;127:323-47. doi: 10.1016/bs.mcb.2015.01.010. Epub 2015 Mar 7.

PMID:
25837399
24.

Compartments within a compartment: what C. elegans can tell us about ciliary subdomain composition, biogenesis, function, and disease.

Blacque OE, Sanders AA.

Organogenesis. 2014 Jan 1;10(1):126-37. doi: 10.4161/org.28830. Epub 2014 Apr 14. Review.

25.

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.

26.

Striated rootlet and nonfilamentous forms of rootletin maintain ciliary function.

Mohan S, Timbers TA, Kennedy J, Blacque OE, Leroux MR.

Curr Biol. 2013 Oct 21;23(20):2016-22. doi: 10.1016/j.cub.2013.08.033. Epub 2013 Oct 3.

27.

Transmembrane protein OSTA-1 shapes sensory cilia morphology via regulation of intracellular membrane trafficking in C. elegans.

Olivier-Mason A, Wojtyniak M, Bowie RV, Nechipurenko IV, Blacque OE, Sengupta P.

Development. 2013 Apr;140(7):1560-72. doi: 10.1242/dev.086249.

28.

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization.

Reiter JF, Blacque OE, Leroux MR.

EMBO Rep. 2012 Jun 29;13(7):608-18. doi: 10.1038/embor.2012.73. Review.

29.

Endocytosis genes facilitate protein and membrane transport in C. elegans sensory cilia.

Kaplan OI, Doroquez DB, Cevik S, Bowie RV, Clarke L, Sanders AA, Kida K, Rappoport JZ, Sengupta P, Blacque OE.

Curr Biol. 2012 Mar 20;22(6):451-60. doi: 10.1016/j.cub.2012.01.060. Epub 2012 Feb 16.

30.

The genetics of outer segment morphogenesis in zebrafish.

Reynolds AL, Blacque OE, Kennedy BN.

Adv Exp Med Biol. 2012;723:431-41. doi: 10.1007/978-1-4614-0631-0_55. Review. No abstract available.

PMID:
22183362
31.

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nürnberg P, Douglas S, Craft CM, Akimenko MA, Hegele RA, Ober C, Utermann G, Bolz HJ, Bulman DE, Katsanis N, Blacque OE, Doherty D, Parboosingh JS, Leroux MR, Johnson CA, Boycott KM.

Am J Hum Genet. 2011 Dec 9;89(6):713-30. doi: 10.1016/j.ajhg.2011.11.005.

32.

MISC-1/OGC links mitochondrial metabolism, apoptosis and insulin secretion.

Gallo M, Park D, Luciani DS, Kida K, Palmieri F, Blacque OE, Johnson JD, Riddle DL.

PLoS One. 2011 Mar 23;6(3):e17827. doi: 10.1371/journal.pone.0017827.

33.

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.

Williams CL, Li C, Kida K, Inglis PN, Mohan S, Semenec L, Bialas NJ, Stupay RM, Chen N, Blacque OE, Yoder BK, Leroux MR.

J Cell Biol. 2011 Mar 21;192(6):1023-41. doi: 10.1083/jcb.201012116.

34.

Localization of a guanylyl cyclase to chemosensory cilia requires the novel ciliary MYND domain protein DAF-25.

Jensen VL, Bialas NJ, Bishop-Hurley SL, Molday LL, Kida K, Nguyen PA, Blacque OE, Molday RS, Leroux MR, Riddle DL.

PLoS Genet. 2010 Nov 24;6(11):e1001199. doi: 10.1371/journal.pgen.1001199.

35.

The AP-1 clathrin adaptor facilitates cilium formation and functions with RAB-8 in C. elegans ciliary membrane transport.

Kaplan OI, Molla-Herman A, Cevik S, Ghossoub R, Kida K, Kimura Y, Jenkins P, Martens JR, Setou M, Benmerah A, Blacque OE.

J Cell Sci. 2010 Nov 15;123(Pt 22):3966-77. doi: 10.1242/jcs.073908. Epub 2010 Oct 27.

36.

Identification of tubulin deglutamylase among Caenorhabditis elegans and mammalian cytosolic carboxypeptidases (CCPs).

Kimura Y, Kurabe N, Ikegami K, Tsutsumi K, Konishi Y, Kaplan OI, Kunitomo H, Iino Y, Blacque OE, Setou M.

J Biol Chem. 2010 Jul 23;285(30):22936-41. doi: 10.1074/jbc.C110.128280. Epub 2010 Jun 2.

37.

Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans.

Cevik S, Hori Y, Kaplan OI, Kida K, Toivenon T, Foley-Fisher C, Cottell D, Katada T, Kontani K, Blacque OE.

J Cell Biol. 2010 Mar 22;188(6):953-69. doi: 10.1083/jcb.200908133. Epub 2010 Mar 15. Erratum in: J Cell Biol. 2010 Apr 5;189(1):187.

38.

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.

Bialas NJ, Inglis PN, Li C, Robinson JF, Parker JD, Healey MP, Davis EE, Inglis CD, Toivonen T, Cottell DC, Blacque OE, Quarmby LM, Katsanis N, Leroux MR.

J Cell Sci. 2009 Mar 1;122(Pt 5):611-24. doi: 10.1242/jcs.028621. Epub 2009 Feb 10.

39.

Functional genomics of intraflagellar transport-associated proteins in C. elegans.

Inglis PN, Blacque OE, Leroux MR.

Methods Cell Biol. 2009;93:267-304. doi: 10.1016/S0091-679X(08)93014-4. Epub 2009 Dec 4.

PMID:
20409822
40.

Intraflagellar transport: from molecular characterisation to mechanism.

Blacque OE, Cevik S, Kaplan OI.

Front Biosci. 2008 Jan 1;13:2633-52. Review.

PMID:
17981739
41.

Sensory ciliogenesis in Caenorhabditis elegans: assignment of IFT components into distinct modules based on transport and phenotypic profiles.

Ou G, Koga M, Blacque OE, Murayama T, Ohshima Y, Schafer JC, Li C, Yoder BK, Leroux MR, Scholey JM.

Mol Biol Cell. 2007 May;18(5):1554-69. Epub 2007 Feb 21.

42.

Identification of ciliary and ciliopathy genes in Caenorhabditis elegans through comparative genomics.

Chen N, Mah A, Blacque OE, Chu J, Phgora K, Bakhoum MW, Newbury CR, Khattra J, Chan S, Go A, Efimenko E, Johnsen R, Phirke P, Swoboda P, Marra M, Moerman DG, Leroux MR, Baillie DL, Stein LD.

Genome Biol. 2006;7(12):R126.

43.

The WD repeat-containing protein IFTA-1 is required for retrograde intraflagellar transport.

Blacque OE, Li C, Inglis PN, Esmail MA, Ou G, Mah AK, Baillie DL, Scholey JM, Leroux MR.

Mol Biol Cell. 2006 Dec;17(12):5053-62. Epub 2006 Oct 4.

44.

Mechanism of transport of IFT particles in C. elegans cilia by the concerted action of kinesin-II and OSM-3 motors.

Pan X, Ou G, Civelekoglu-Scholey G, Blacque OE, Endres NF, Tao L, Mogilner A, Leroux MR, Vale RD, Scholey JM.

J Cell Biol. 2006 Sep 25;174(7):1035-45.

45.

Caenorhabditis elegans DYF-2, an orthologue of human WDR19, is a component of the intraflagellar transport machinery in sensory cilia.

Efimenko E, Blacque OE, Ou G, Haycraft CJ, Yoder BK, Scholey JM, Leroux MR, Swoboda P.

Mol Biol Cell. 2006 Nov;17(11):4801-11. Epub 2006 Sep 6.

46.

Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport.

Blacque OE, Leroux MR.

Cell Mol Life Sci. 2006 Sep;63(18):2145-61. Review.

PMID:
16909204
47.

Functional coordination of intraflagellar transport motors.

Ou G, Blacque OE, Snow JJ, Leroux MR, Scholey JM.

Nature. 2005 Jul 28;436(7050):583-7.

PMID:
16049494
48.

Functional genomics of the cilium, a sensory organelle.

Blacque OE, Perens EA, Boroevich KA, Inglis PN, Li C, Warner A, Khattra J, Holt RA, Ou G, Mah AK, McKay SJ, Huang P, Swoboda P, Jones SJ, Marra MA, Baillie DL, Moerman DG, Shaham S, Leroux MR.

Curr Biol. 2005 May 24;15(10):935-41.

49.

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
50.

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport.

Blacque OE, Reardon MJ, Li C, McCarthy J, Mahjoub MR, Ansley SJ, Badano JL, Mah AK, Beales PL, Davidson WS, Johnsen RC, Audeh M, Plasterk RH, Baillie DL, Katsanis N, Quarmby LM, Wicks SR, Leroux MR.

Genes Dev. 2004 Jul 1;18(13):1630-42.

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