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Items: 1 to 20 of 149

1.

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.

2.

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.

3.

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.

4.

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.

5.

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.

6.

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.

Abdelhamed ZA, Wheway G, Szymanska K, Natarajan S, Toomes C, Inglehearn C, Johnson CA.

Hum Mol Genet. 2013 Apr 1;22(7):1358-72. doi: 10.1093/hmg/dds546. Epub 2013 Jan 2.

7.

Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4.

Williams CL, Masyukova SV, Yoder BK.

J Am Soc Nephrol. 2010 May;21(5):782-93. doi: 10.1681/ASN.2009060597. Epub 2010 Feb 11.

8.

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.

9.

The nphp-2 and arl-13 genetic modules interact to regulate ciliogenesis and ciliary microtubule patterning in C. elegans.

Warburton-Pitt SR, Silva M, Nguyen KC, Hall DH, Barr MM.

PLoS Genet. 2014 Dec 11;10(12):e1004866. doi: 10.1371/journal.pgen.1004866. eCollection 2014 Dec.

10.

A Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4.

Masyukova SV, Landis DE, Henke SJ, Williams CL, Pieczynski JN, Roszczynialski KN, Covington JE, Malarkey EB, Yoder BK.

PLoS Genet. 2016 Feb 10;12(2):e1005841. doi: 10.1371/journal.pgen.1005841. eCollection 2016 Feb.

11.

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.

PMID:
26595381
12.

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.

13.

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.

14.

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.

15.

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.

Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK.

Cell. 2011 May 13;145(4):513-28. doi: 10.1016/j.cell.2011.04.019.

16.

Caenorhabditis elegans ciliary protein NPHP-8, the homologue of human RPGRIP1L, is required for ciliogenesis and chemosensation.

Liu L, Zhang M, Xia Z, Xu P, Chen L, Xu T.

Biochem Biophys Res Commun. 2011 Jul 8;410(3):626-31. doi: 10.1016/j.bbrc.2011.06.041. Epub 2011 Jun 13.

PMID:
21689635
17.

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.

18.

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
19.

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.

Bachmann-Gagescu R, Dona M, Hetterschijt L, Tonnaer E, Peters T, de Vrieze E, Mans DA, van Beersum SE, Phelps IG, Arts HH, Keunen JE, Ueffing M, Roepman R, Boldt K, Doherty D, Moens CB, Neuhauss SC, Kremer H, van Wijk E.

PLoS Genet. 2015 Oct 20;11(10):e1005575. doi: 10.1371/journal.pgen.1005575. eCollection 2015 Oct.

20.

The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.

Leightner AC, Hommerding CJ, Peng Y, Salisbury JL, Gainullin VG, Czarnecki PG, Sussman CR, Harris PC.

Hum Mol Genet. 2013 May 15;22(10):2024-40. doi: 10.1093/hmg/ddt054. Epub 2013 Feb 7.

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