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Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, Leventer RJ, Topçu M, Cansu A, Jagadeesh S, Done S, Ishak GE, Glass IA, Shendure J, Neuhauss SC, Haldeman-Englert CR, Doherty D, Ferland RJ. Tuz K, et al. Among authors: neuhauss sc. Am J Hum Genet. 2014 Jan 2;94(1):62-72. doi: 10.1016/j.ajhg.2013.11.019. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360808 Free PMC article.
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. Bachmann-Gagescu R, et al. Among authors: neuhauss sc. PLoS Genet. 2015 Oct 20;11(10):e1005575. doi: 10.1371/journal.pgen.1005575. eCollection 2015 Oct. PLoS Genet. 2015. PMID: 26485645 Free PMC article.
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D. Van De Weghe JC, et al. Am J Hum Genet. 2017 Jul 6;101(1):23-36. doi: 10.1016/j.ajhg.2017.05.010. Epub 2017 Jun 15. Am J Hum Genet. 2017. PMID: 28625504 Free PMC article.
Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors.
Ojeda Naharros I, Gesemann M, Mateos JM, Barmettler G, Forbes A, Ziegler U, Neuhauss SCF, Bachmann-Gagescu R. Ojeda Naharros I, et al. PLoS Genet. 2017 Dec 27;13(12):e1007150. doi: 10.1371/journal.pgen.1007150. eCollection 2017 Dec. PLoS Genet. 2017. PMID: 29281629 Free PMC article.
The photoreceptor cilium and its diseases.
Bachmann-Gagescu R, Neuhauss SC. Bachmann-Gagescu R, et al. Among authors: neuhauss sc. Curr Opin Genet Dev. 2019 Jun;56:22-33. doi: 10.1016/j.gde.2019.05.004. Epub 2019 Jun 28. Curr Opin Genet Dev. 2019. PMID: 31260874 Review.
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.
Latour BL, Van De Weghe JC, Rusterholz TD, Letteboer SJ, Gomez A, Shaheen R, Gesemann M, Karamzade A, Asadollahi M, Barroso-Gil M, Chitre M, Grout ME, van Reeuwijk J, van Beersum SE, Miller CV, Dempsey JC, Morsy H; University of Washington Center for Mendelian Genomics; Bamshad MJ; Genomics England Research Consortium; Nickerson DA, Neuhauss SC, Boldt K, Ueffing M, Keramatipour M, Sayer JA, Alkuraya FS, Bachmann-Gagescu R, Roepman R, Doherty D. Latour BL, et al. Among authors: neuhauss sc. J Clin Invest. 2020 Aug 3;130(8):4423-4439. doi: 10.1172/JCI131656. J Clin Invest. 2020. PMID: 32453716 Free PMC article.
161 results