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Items: 1 to 50 of 82

1.

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.

2.

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.

3.

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
4.

CDKL Family Kinases Have Evolved Distinct Structural Features and Ciliary Function.

Canning P, Park K, Gonçalves J, Li C, Howard CJ, Sharpe TD, Holt LJ, Pelletier L, Bullock AN, Leroux MR.

Cell Rep. 2018 Jan 23;22(4):885-894. doi: 10.1016/j.celrep.2017.12.083. Epub 2018 Jan 28.

5.

Genes and molecular pathways underpinning ciliopathies.

Reiter JF, Leroux MR.

Nat Rev Mol Cell Biol. 2017 Sep;18(9):533-547. doi: 10.1038/nrm.2017.60. Epub 2017 Jul 12. Review.

6.

Gates for soluble and membrane proteins, and two trafficking systems (IFT and LIFT), establish a dynamic ciliary signaling compartment.

Jensen VL, Leroux MR.

Curr Opin Cell Biol. 2017 Aug;47:83-91. doi: 10.1016/j.ceb.2017.03.012. Epub 2017 Apr 19. Review.

PMID:
28432921
7.

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.

8.

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.

9.

Accelerating Gene Discovery by Phenotyping Whole-Genome Sequenced Multi-mutation Strains and Using the Sequence Kernel Association Test (SKAT).

Timbers TA, Garland SJ, Mohan S, Flibotte S, Edgley M, Muncaster Q, Au V, Li-Leger E, Rosell FI, Cai J, Rademakers S, Jansen G, Moerman DG, Leroux MR.

PLoS Genet. 2016 Aug 10;12(8):e1006235. doi: 10.1371/journal.pgen.1006235. eCollection 2016 Aug.

10.

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.

11.

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.

12.

Shared and Distinct Mechanisms of Compartmentalized and Cytosolic Ciliogenesis.

Avidor-Reiss T, Leroux MR.

Curr Biol. 2015 Dec 7;25(23):R1143-50. doi: 10.1016/j.cub.2015.11.001. Review.

13.

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.

14.

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.

15.

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

Roberson EC, Dowdle WE, Ozanturk A, Garcia-Gonzalo FR, Li C, Halbritter J, Elkhartoufi N, Porath JD, Cope H, Ashley-Koch A, Gregory S, Thomas S, Sayer JA, Saunier S, Otto EA, Katsanis N, Davis EE, Attié-Bitach T, Hildebrandt F, Leroux MR, Reiter JF.

J Cell Biol. 2015 Apr 13;209(1):129-42. doi: 10.1083/jcb.201411087.

16.

Ciliopathy proteins establish a bipartite signaling compartment in a C. elegans thermosensory neuron.

Nguyen PA, Liou W, Hall DH, Leroux MR.

J Cell Sci. 2014 Dec 15;127(Pt 24):5317-30. doi: 10.1242/jcs.157610. Epub 2014 Oct 21.

17.

The roles of evolutionarily conserved functional modules in cilia-related trafficking.

Sung CH, Leroux MR.

Nat Cell Biol. 2013 Dec;15(12):1387-97. doi: 10.1038/ncb2888. Review.

18.

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F.

Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17.

19.

Identification of 526 conserved metazoan genetic innovations exposes a new role for cofactor E-like in neuronal microtubule homeostasis.

Frédéric MY, Lundin VF, Whiteside MD, Cueva JG, Tu DK, Kang SY, Singh H, Baillie DL, Hutter H, Goodman MB, Brinkman FS, Leroux MR.

PLoS Genet. 2013;9(10):e1003804. doi: 10.1371/journal.pgen.1003804. Epub 2013 Oct 3.

20.

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.

21.

Human prefoldin inhibits amyloid-β (Aβ) fibrillation and contributes to formation of nontoxic Aβ aggregates.

Sörgjerd KM, Zako T, Sakono M, Stirling PC, Leroux MR, Saito T, Nilsson P, Sekimoto M, Saido TC, Maeda M.

Biochemistry. 2013 May 21;52(20):3532-42. doi: 10.1021/bi301705c. Epub 2013 May 8. Erratum in: Biochemistry. 2014 Jun 3;53(21):3520.

PMID:
23614719
22.

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.

23.

A truncating mutation of Alms1 reduces the number of hypothalamic neuronal cilia in obese mice.

Heydet D, Chen LX, Larter CZ, Inglis C, Silverman MA, Farrell GC, Leroux MR.

Dev Neurobiol. 2013 Jan;73(1):1-13. doi: 10.1002/dneu.22031. Epub 2012 Jul 20.

24.

Ciliogenesis in Caenorhabditis elegans requires genetic interactions between ciliary middle segment localized NPHP-2 (inversin) and transition zone-associated proteins.

Warburton-Pitt SR, Jauregui AR, Li C, Wang J, Leroux MR, Barr MM.

J Cell Sci. 2012 Jun 1;125(Pt 11):2592-603. doi: 10.1242/jcs.095539. Epub 2012 Mar 5.

25.

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.

26.

Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans.

Mok CA, Healey MP, Shekhar T, Leroux MR, Héon E, Zhen M.

PLoS Genet. 2011 Oct;7(10):e1002335. doi: 10.1371/journal.pgen.1002335. Epub 2011 Oct 13.

27.

Transcriptional profiling of C. elegans DAF-19 uncovers a ciliary base-associated protein and a CDK/CCRK/LF2p-related kinase required for intraflagellar transport.

Phirke P, Efimenko E, Mohan S, Burghoorn J, Crona F, Bakhoum MW, Trieb M, Schuske K, Jorgensen EM, Piasecki BP, Leroux MR, Swoboda P.

Dev Biol. 2011 Sep 1;357(1):235-47. doi: 10.1016/j.ydbio.2011.06.028. Epub 2011 Jun 27.

28.

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.

29.

Tubulin acetyltransferase discovered: ciliary role in the ancestral eukaryote expanded to neurons in metazoans.

Leroux MR.

Proc Natl Acad Sci U S A. 2010 Dec 14;107(50):21238-9. doi: 10.1073/pnas.1016396108. Epub 2010 Dec 6. No abstract available.

30.

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.

31.

cAMP and cGMP signaling: sensory systems with prokaryotic roots adopted by eukaryotic cilia.

Johnson JL, Leroux MR.

Trends Cell Biol. 2010 Aug;20(8):435-44. doi: 10.1016/j.tcb.2010.05.005. Epub 2010 Jun 11.

PMID:
20541938
32.

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.

33.

Quality control of cytoskeletal proteins and human disease.

Lundin VF, Leroux MR, Stirling PC.

Trends Biochem Sci. 2010 May;35(5):288-97. doi: 10.1016/j.tibs.2009.12.007. Epub 2010 Jan 28. Review.

PMID:
20116259
34.

Sensorium: the original raison d'etre of the motile cilium?

Quarmby LM, Leroux MR.

J Mol Cell Biol. 2010 Apr;2(2):65-7. doi: 10.1093/jmcb/mjp036. Epub 2009 Oct 16.

PMID:
19837686
35.

Signaling proteins that regulate NaCl [corrected] chemotaxis responses modulate longevity in C. elegans.

Lans H, Dekkers MP, Hukema RK, Bialas NJ, Leroux MR, Jansen G.

Ann N Y Acad Sci. 2009 Jul;1170:682-7. doi: 10.1111/j.1749-6632.2009.04362.x. Erratum in: Ann N Y Acad Sci. 2009 Sep;1176:229.

PMID:
19686212
36.

Intraflagellar transport and the generation of dynamic, structurally and functionally diverse cilia.

Silverman MA, Leroux MR.

Trends Cell Biol. 2009 Jul;19(7):306-16. doi: 10.1016/j.tcb.2009.04.002. Epub 2009 Jun 25. Review.

PMID:
19560357
37.

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.

38.

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
39.

The interaction network of the chaperonin CCT.

Dekker C, Stirling PC, McCormack EA, Filmore H, Paul A, Brost RL, Costanzo M, Boone C, Leroux MR, Willison KR.

EMBO J. 2008 Jul 9;27(13):1827-39. doi: 10.1038/emboj.2008.108. Epub 2008 May 29.

40.

An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes.

Li C, Inglis PN, Leitch CC, Efimenko E, Zaghloul NA, Mok CA, Davis EE, Bialas NJ, Healey MP, Héon E, Zhen M, Swoboda P, Katsanis N, Leroux MR.

PLoS Genet. 2008 Mar 28;4(3):e1000044. doi: 10.1371/journal.pgen.1000044.

41.

Efficient chaperone-mediated tubulin biogenesis is essential for cell division and cell migration in C. elegans.

Lundin VF, Srayko M, Hyman AA, Leroux MR.

Dev Biol. 2008 Jan 1;313(1):320-34. Epub 2007 Oct 24.

42.

The sensory cilia of Caenorhabditis elegans.

Inglis PN, Ou G, Leroux MR, Scholey JM.

WormBook. 2007 Mar 8:1-22. Review.

43.

Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function.

Tan PL, Barr T, Inglis PN, Mitsuma N, Huang SM, Garcia-Gonzalez MA, Bradley BA, Coforio S, Albrecht PJ, Watnick T, Germino GG, Beales PL, Caterina MJ, Leroux MR, Rice FL, Katsanis N.

Proc Natl Acad Sci U S A. 2007 Oct 30;104(44):17524-9. Epub 2007 Oct 24.

44.

Taking vesicular transport to the cilium.

Leroux MR.

Cell. 2007 Jun 15;129(6):1041-3.

45.

Functional interaction between phosducin-like protein 2 and cytosolic chaperonin is essential for cytoskeletal protein function and cell cycle progression.

Stirling PC, Srayko M, Takhar KS, Pozniakovsky A, Hyman AA, Leroux MR.

Mol Biol Cell. 2007 Jun;18(6):2336-45. Epub 2007 Apr 11.

46.

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.

47.

Divergent substrate-binding mechanisms reveal an evolutionary specialization of eukaryotic prefoldin compared to its archaeal counterpart.

Martín-Benito J, Gómez-Reino J, Stirling PC, Lundin VF, Gómez-Puertas P, Boskovic J, Chacón P, Fernández JJ, Berenguer J, Leroux MR, Valpuesta JM.

Structure. 2007 Jan;15(1):101-10.

48.

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.

49.

Convergent evolution of clamp-like binding sites in diverse chaperones.

Stirling PC, Bakhoum SF, Feigl AB, Leroux MR.

Nat Struct Mol Biol. 2006 Oct;13(10):865-70. Review.

PMID:
17021621
50.

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.

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