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

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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

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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

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IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis

By Bahi N.  

Human Molecular Genetics, Vol. 12, Iss. 12, 2003-06 ,pp. : 1415-1425

Oxford University Press

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ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy

By Senechal Kristen R.  

Human Molecular Genetics, Vol. 14, Iss. 12, 2005-06 ,pp. : 1613-1620

Oxford University Press

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