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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Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

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Human Molecular Genetics, Vol. 7, Iss. 7, 1998-07 ,pp. : 1185-1192

Oxford University Press

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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

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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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Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP)

By Ducamp Sarah   Schneider-Yin Xiaoye   de Rooij Felix   Clayton Jerome   Fratz Erica J.   Rudd Alice   Ostapowicz George   Varigos George   Lefebvre Thibaud   Deybach Jean-Charles   Gouya Laurent   Wilson Paul   Ferreira Gloria C.   Minder Elisabeth I.   Puy Hervé  

Human Molecular Genetics, Vol. 22, Iss. 7, 2013-04 ,pp. : 1280-1288

Oxford University Press

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