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The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.
Tuz K, Hsiao YC, Juárez O, Shi B, Harmon EY, Phelps IG, Lennartz MR, Glass IA, Doherty D, Ferland RJ. Tuz K, et al. Among authors: ferland rj. J Biol Chem. 2013 May 10;288(19):13676-94. doi: 10.1074/jbc.M112.420786. Epub 2013 Mar 26. J Biol Chem. 2013. PMID: 23532844 Free PMC article.
Trafficking in and to the primary cilium.
Hsiao YC, Tuz K, Ferland RJ. Hsiao YC, et al. Among authors: ferland rj. Cilia. 2012 Apr 25;1(1):4. doi: 10.1186/2046-2530-1-4. Cilia. 2012. PMID: 23351793 Free PMC article.
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia.
Ferland RJ, Batiz LF, Neal J, Lian G, Bundock E, Lu J, Hsiao YC, Diamond R, Mei D, Banham AH, Brown PJ, Vanderburg CR, Joseph J, Hecht JL, Folkerth R, Guerrini R, Walsh CA, Rodriguez EM, Sheen VL. Ferland RJ, et al. Hum Mol Genet. 2009 Feb 1;18(3):497-516. doi: 10.1093/hmg/ddn377. Epub 2008 Nov 7. Hum Mol Genet. 2009. PMID: 18996916 Free PMC article.
61 results