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

Access to resources Recommend Favorite

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis

By Dieterich Klaus   Quijano-Roy Susana   Monnier Nicole   Zhou Jie   Fauré Julien   Smirnow Daniela Avila   Carlier Robert   Laroche Cécile   Marcorelles Pascale   Mercier Sandra   Mégarbané André   Odent Sylvie   Romero Norma   Sternberg Damien   Marty Isabelle   Estournet Brigitte   Jouk Pierre-Simon   Melki Judith   Lunardi Joël  

Human Molecular Genetics, Vol. 22, Iss. 8, 2013-04 ,pp. : 1483-1492

Oxford University Press

Access to resources Recommend Favorite

RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis

By Won Jungyeon   Gifford Elaine   Smith Richard S.   Yi Haiqing   Ferreira Paulo A.   Hicks Wanda L.   Li Tiansen   Naggert Jrgen K.   Nishina Patsy M.  

Human Molecular Genetics, Vol. 18, Iss. 22, 2009-11 ,pp. : 4329-4339

Oxford University Press

Access to resources Recommend Favorite

The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase

By Coene Karlien L.M.   Mans Dorus A.   Boldt Karsten   Gloeckner C. Johannes   van Reeuwijk Jeroen   Bolat Emine   Roosing Susanne   Letteboer Stef J.F.   Peters Theo A.   Cremers Frans P.M.   Ueffing Marius   Roepman Ronald  

Human Molecular Genetics, Vol. 20, Iss. 18, 2011-09 ,pp. : 3592-3605

Oxford University Press

Access to resources Recommend Favorite

Deletion of 15q11.2(BP1‐BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 9, 2015-09 ,pp. : 2098-2102

John Wiley & Sons Inc

Access to resources Recommend Favorite