Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and -hydroxy ceramide accumulation, and altered prosaposin trafficking

By Sun Ying   Witte David P.   Zamzow Matt   Ran Huimin   Quinn Brian   Matsuda Junko   Grabowski Gregory A.  

Human Molecular Genetics, Vol. 16, Iss. 8, 2007-04 ,pp. : 957-971

Oxford University Press

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Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting

By Vaccaro Anna M.   Motta Marialetizia   Tatti Massimo   Scarpa Susanna   Masuelli Laura   Bhat Meenakshi   Vanier Marie T.   Tylki-Szymanska Anna   Salvioli Rosa  

Human Molecular Genetics, Vol. 19, Iss. 15, 2010-08 ,pp. : 2987-2997

Oxford University Press

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Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice

By Sun Ying   Witte David P.   Ran Huimin   Zamzow Matt   Barnes Sonya   Cheng Hua   Han Xianlin   Williams Michael T.   Skelton Matthew R.   Vorhees Charles V.   Grabowski Gregory A.  

Human Molecular Genetics, Vol. 17, Iss. 15, 2008-08 ,pp. : 2345-2356

Oxford University Press

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ITCH regulates degradation of mutant glucocerebrosidase: implications to Gaucher disease

By Maor Gali   Filocamo Mirella   Horowitz Mia  

Human Molecular Genetics, Vol. 22, Iss. 7, 2013-04 ,pp. : 1316-1327

Oxford University Press

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Specific saposin C deficiency: CNS impairment and acid -glucosidase effects in the mouse

By Sun Ying   Ran Huimin   Zamzow Matt   Kitatani Kazuyuki   Skelton Matthew R.   Williams Michael T.   Vorhees Charles V.   Witte David P.   Hannun Yusuf A.   Grabowski Gregory A.  

Human Molecular Genetics, Vol. 19, Iss. 4, 2010-02 ,pp. : 634-647

Oxford University Press

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