Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis

By Sergeev Y.V.   Caruso R.C.   Meltzer M.R.   Smaoui N.   MacDonald I.M.   Sieving P.A.  

Human Molecular Genetics, Vol. 19, Iss. 7, 2010-04 ,pp. : 1302-1313

Oxford University Press

Access to resources Recommend Favorite

The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis

By Friedrich Ulrike   Stöhr Heidi   Hilfinger Daniela   Loenhardt Thomas   Schachner Melitta   Langmann Thomas   Weber Bernhard H.F.  

Human Molecular Genetics, Vol. 20, Iss. 6, 2011-03 ,pp. : 1132-1142

Oxford University Press

Access to resources Recommend Favorite

Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis

By Wang T.  

Human Molecular Genetics, Vol. 11, Iss. 24, 2002-09 ,pp. : 3097-3105

Oxford University Press

Access to resources Recommend Favorite

Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri–Rb1 cells

By Grayson Celene   Reid SilviaN.M.  

Human Molecular Genetics, Vol. 9, Iss. 12, 2000-07 ,pp. : 1873-1879

Oxford University Press

Access to resources Recommend Favorite

Mutations in the RPGR gene cause X-linked cone dystrophy

By Yang Z.  

Human Molecular Genetics, Vol. 11, Iss. 5, 2002-03 ,pp. : 605-611

Oxford University Press

Access to resources Recommend Favorite