Genetic and physical interaction between the NPHP5 and NPHP6 gene products

By Schfer Tobias   Ptz Michael   Lienkamp Soeren   Ganner Athina   Bergbreiter Astrid   Ramachandran Haribaskar   Gieloff Verena   Gerner Martin   Mattonet Christian   Czarnecki Peter G.   Sayer John A.   Otto Edgar A.   Hildebrandt Friedhelm   Kramer-Zucker Albrecht   Walz Gerd  

Human Molecular Genetics, Vol. 18, Iss. 21, 2009-11 ,pp. : 4226-4226

Oxford University Press

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Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

By Cideciyan Artur V.   Rachel Rivka A.   Aleman Tomas S.   Swider Malgorzata   Schwartz Sharon B.   Sumaroka Alexander   Roman Alejandro J.   Stone Edwin M.   Jacobson Samuel G.   Swaroop Anand  

Human Molecular Genetics, Vol. 20, Iss. 7, 2011-04 ,pp. : 1411-1423

Oxford University Press

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Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis

By Barbelanne Marine   Song Jenny   Ahmadzai Mustafa   Tsang William Y.  

Human Molecular Genetics, Vol. 22, Iss. 12, 2013-06 ,pp. : 2482-2494

Oxford University Press

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In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

By Chang Bo   Khanna Hemant   Jimeno David   He Shirley   Lillo Concepcion   Parapuram Sunil K.   Cheng Hong   Scott Alison   Hurd Ron E.   Sayer John A.   Otto Edgar A.   Attanasio Massimo   O'Toole John F.   Jin Genglin   Shou Chengchao   Hildebrandt Friedhelm   Williams David S.   Heckenlively John R.   Swaroop Anand  

Human Molecular Genetics, Vol. 15, Iss. 11, 2006-06 ,pp. : 1847-1857

Oxford University Press

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Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

By Sampson J.  

Human Molecular Genetics, Vol. 7, Iss. 6, 1998-06 ,pp. : 1053-1057

Oxford University Press

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