The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells

By Kirschman Lindsay T.   Kolandaivelu Saravanan   Frederick Jeanne M.   Dang Loan   Goldberg Andrew F.X.   Baehr Wolfgang   Ramamurthy Visvanathan  

Human Molecular Genetics, Vol. 19, Iss. 6, 2010-03 ,pp. : 1076-1087

Oxford University Press

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The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina

By Spuy J.v.d.   Chapple J.P.   Clark B.J.   Luthert P.J.   Sethi C.S.   Cheetham M.E.  

Human Molecular Genetics, Vol. 11, Iss. 7, 2002-04 ,pp. : 823-831

Oxford University Press

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Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis

By Lu Xinrong   Guruju Mallikarjuna   Oswald John   Ferreira Paulo A.  

Human Molecular Genetics, Vol. 14, Iss. 10, 2005-05 ,pp. : 1327-1340

Oxford University Press

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Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein

By van Wijk Erwin   Kersten Ferry F.J.   Kartono Aileen   Mans Dorus A.   Brandwijk Kim   Letteboer Stef J.F.   Peters Theo A.   Mrker Tina   Yan Xiumin   Cremers Cor W.R.J.   Cremers Frans P.M.   Wolfrum Uwe   Roepman Ronald   Kremer Hannie  

Human Molecular Genetics, Vol. 18, Iss. 1, 2009-01 ,pp. : 51-64

Oxford University Press

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Cone and rod photoreceptor transplantation in models of the childhood retinopathy Leber congenital amaurosis using flow-sorted Crx-positive donor cells

By Lakowski J.   Baron M.   Bainbridge J.   Barber A.C.   Pearson R.A.   Ali R.R.   Sowden J.C.  

Human Molecular Genetics, Vol. 19, Iss. 23, 2010-12 ,pp. : 4545-4559

Oxford University Press

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