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ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
Alkanderi S, Molinari E, Shaheen R, Elmaghloob Y, Stephen LA, Sammut V, Ramsbottom SA, Srivastava S, Cairns G, Edwards N, Rice SJ, Ewida N, Alhashem A, White K, Miles CG, Steel DH, Alkuraya FS, Ismail S, Sayer JA. Alkanderi S, et al. Among authors: stephen la. Am J Hum Genet. 2018 Oct 4;103(4):612-620. doi: 10.1016/j.ajhg.2018.08.015. Epub 2018 Sep 27. Am J Hum Genet. 2018. PMID: 30269812 Free PMC article.
Maintaining protein composition in cilia.
Stephen LA, Elmaghloob Y, Ismail S. Stephen LA, et al. Biol Chem. 2017 Dec 20;399(1):1-11. doi: 10.1515/hsz-2017-0168. Biol Chem. 2017. PMID: 28850540 Review.
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
Stephen LA, Tawamie H, Davis GM, Tebbe L, Nürnberg P, Nürnberg G, Thiele H, Thoenes M, Boltshauser E, Uebe S, Rompel O, Reis A, Ekici AB, McTeir L, Fraser AM, Hall EA, Mill P, Daudet N, Cross C, Wolfrum U, Jamra RA, Davey MG, Bolz HJ. Stephen LA, et al. Elife. 2015 Sep 19;4:e08077. doi: 10.7554/eLife.08077. Elife. 2015. PMID: 26386247 Free PMC article.
The role of miR-29 family in disease.
Horita M, Farquharson C, Stephen LA. Horita M, et al. Among authors: stephen la. J Cell Biochem. 2021 Jul;122(7):696-715. doi: 10.1002/jcb.29896. Epub 2021 Feb 2. J Cell Biochem. 2021. PMID: 33529442 Free PMC article. Review.
21 results