351 related articles for article (PubMed ID: 31846650)
1. Primary Cilia Signaling Promotes Axonal Tract Development and Is Disrupted in Joubert Syndrome-Related Disorders Models.
Guo J; Otis JM; Suciu SK; Catalano C; Xing L; Constable S; Wachten D; Gupton S; Lee J; Lee A; Blackley KH; Ptacek T; Simon JM; Schurmans S; Stuber GD; Caspary T; Anton ES
Dev Cell; 2019 Dec; 51(6):759-774.e5. PubMed ID: 31846650
[TBL] [Abstract][Full Text] [Related]
2. MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
Slaats GG; Isabella CR; Kroes HY; Dempsey JC; Gremmels H; Monroe GR; Phelps IG; Duran KJ; Adkins J; Kumar SA; Knutzen DM; Knoers NV; Mendelsohn NJ; Neubauer D; Mastroyianni SD; Vogt J; Worgan L; Karp N; Bowdin S; Glass IA; Parisi MA; Otto EA; Johnson CA; Hildebrandt F; van Haaften G; Giles RH; Doherty D
J Med Genet; 2016 Jan; 53(1):62-72. PubMed ID: 26490104
[TBL] [Abstract][Full Text] [Related]
3. Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E.
Nozaki S; Katoh Y; Terada M; Michisaka S; Funabashi T; Takahashi S; Kontani K; Nakayama K
J Cell Sci; 2017 Feb; 130(3):563-576. PubMed ID: 27927754
[TBL] [Abstract][Full Text] [Related]
4. Axoneme polyglutamylation regulated by Joubert syndrome protein ARL13B controls ciliary targeting of signaling molecules.
He K; Ma X; Xu T; Li Y; Hodge A; Zhang Q; Torline J; Huang Y; Zhao J; Ling K; Hu J
Nat Commun; 2018 Aug; 9(1):3310. PubMed ID: 30120249
[TBL] [Abstract][Full Text] [Related]
5. Ciliopathies and the Kidney: A Review.
McConnachie DJ; Stow JL; Mallett AJ
Am J Kidney Dis; 2021 Mar; 77(3):410-419. PubMed ID: 33039432
[TBL] [Abstract][Full Text] [Related]
6. Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts.
Molinari E; Ramsbottom SA; Srivastava S; Booth P; Alkanderi S; McLafferty SM; Devlin LA; White K; Gunay-Aygun M; Miles CG; Sayer JA
Sci Rep; 2019 Jul; 9(1):10828. PubMed ID: 31346239
[TBL] [Abstract][Full Text] [Related]
7. A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Thomas S; Wright KJ; Le Corre S; Micalizzi A; Romani M; Abhyankar A; Saada J; Perrault I; Amiel J; Litzler J; Filhol E; Elkhartoufi N; Kwong M; Casanova JL; Boddaert N; Baehr W; Lyonnet S; Munnich A; Burglen L; Chassaing N; Encha-Ravazi F; Vekemans M; Gleeson JG; Valente EM; Jackson PK; Drummond IA; Saunier S; Attié-Bitach T
Hum Mutat; 2014 Jan; 35(1):137-46. PubMed ID: 24166846
[TBL] [Abstract][Full Text] [Related]
8. A function for the Joubert syndrome protein Arl13b in ciliary membrane extension and ciliary length regulation.
Lu H; Toh MT; Narasimhan V; Thamilselvam SK; Choksi SP; Roy S
Dev Biol; 2015 Jan; 397(2):225-36. PubMed ID: 25448689
[TBL] [Abstract][Full Text] [Related]
9. The Joubert syndrome protein ARL13B binds tubulin to maintain uniform distribution of proteins along the ciliary membrane.
Revenkova E; Liu Q; Gusella GL; Iomini C
J Cell Sci; 2018 May; 131(9):. PubMed ID: 29592971
[TBL] [Abstract][Full Text] [Related]
10. Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.
Rao KN; Zhang W; Li L; Anand M; Khanna H
Hum Mol Genet; 2016 Oct; 25(20):4533-4545. PubMed ID: 28172980
[TBL] [Abstract][Full Text] [Related]
11. 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; 11(10):e1005575. PubMed ID: 26485645
[TBL] [Abstract][Full Text] [Related]
12. A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.
Srivastava S; Ramsbottom SA; Molinari E; Alkanderi S; Filby A; White K; Henry C; Saunier S; Miles CG; Sayer JA
Hum Mol Genet; 2017 Dec; 26(23):4657-4667. PubMed ID: 28973549
[TBL] [Abstract][Full Text] [Related]
13. Multiple ciliary localization signals control INPP5E ciliary targeting.
Cilleros-Rodriguez D; Martin-Morales R; Barbeito P; Deb Roy A; Loukil A; Sierra-Rodero B; Herranz G; Pampliega O; Redrejo-Rodriguez M; Goetz SC; Izquierdo M; Inoue T; Garcia-Gonzalo FR
Elife; 2022 Sep; 11():. PubMed ID: 36063381
[TBL] [Abstract][Full Text] [Related]
14. Smoothened and ARL13B are critical in mouse for superior cerebellar peduncle targeting.
Suciu SK; Long AB; Caspary T
Genetics; 2021 Aug; 218(4):. PubMed ID: 34132778
[TBL] [Abstract][Full Text] [Related]
15. Mice with a conditional deletion of Talpid3 (KIAA0586) - a model for Joubert syndrome.
Bashford AL; Subramanian V
J Pathol; 2019 Aug; 248(4):396-408. PubMed ID: 30924151
[TBL] [Abstract][Full Text] [Related]
16. Primary Cilia and Brain Wiring, Connecting the Dots.
Song Q; Gleeson JG
Dev Cell; 2019 Dec; 51(6):661-663. PubMed ID: 31951539
[TBL] [Abstract][Full Text] [Related]
17. Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome.
Shi X; Garcia G; Van De Weghe JC; McGorty R; Pazour GJ; Doherty D; Huang B; Reiter JF
Nat Cell Biol; 2017 Oct; 19(10):1178-1188. PubMed ID: 28846093
[TBL] [Abstract][Full Text] [Related]
18. INPP5E interacts with AURKA, linking phosphoinositide signaling to primary cilium stability.
Plotnikova OV; Seo S; Cottle DL; Conduit S; Hakim S; Dyson JM; Mitchell CA; Smyth IM
J Cell Sci; 2015 Jan; 128(2):364-72. PubMed ID: 25395580
[TBL] [Abstract][Full Text] [Related]
19. Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2.
Lo CH; Liu Z; Chen S; Lin F; Berneshawi AR; Yu CQ; Koo EB; Kowal TJ; Ning K; Hu Y; Wang WJ; Liao YJ; Sun Y
J Clin Invest; 2024 Jul; 134(13):. PubMed ID: 38949024
[TBL] [Abstract][Full Text] [Related]
20. Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Epting D; Senaratne LDS; Ott E; Holmgren A; Sumathipala D; Larsen SM; Wallmeier J; Bracht D; Frikstad KM; Crowley S; Sikiric A; Barøy T; Käsmann-Kellner B; Decker E; Decker C; Bachmann N; Patzke S; Phelps IG; Katsanis N; Giles R; Schmidts M; Zucknick M; Lienkamp SS; Omran H; Davis EE; Doherty D; Strømme P; Frengen E; Bergmann C; Misceo D
Hum Mutat; 2020 Dec; 41(12):2179-2194. PubMed ID: 33131181
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
