Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice

By Sun Ying   Zamzow Matt   Ran Huimin   Zhang Wujuan   Quinn Brian   Barnes Sonya   Witte David P.   Setchell Kenneth D.R.   Williams Michael T.   Vorhees Charles V.   Grabowski Gregory A.  

Human Molecular Genetics, Vol. 22, Iss. 12, 2013-06 ,pp. : 2435-2450

Oxford University Press

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Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits

By Sun Ying   Liou Benjamin   Ran Huimin   Skelton Matthew R.   Williams Michael T.   Vorhees Charles V.   Kitatani Kazuyuki   Hannun Yusuf A.   Witte David P.   Xu You-Hai   Grabowski Gregory A.  

Human Molecular Genetics, Vol. 19, Iss. 6, 2010-03 ,pp. : 1088-1097

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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Recombinant human acid α-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice

By Bijvoet A.G.A.  

Human Molecular Genetics, Vol. 7, Iss. 11, 1998-11 ,pp. : 1815-1824

Oxford University Press

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Enzyme therapy for lysosomal acid lipase deficiency in the mouse

By Schiavi S.   Levine M.   Du H.   Mishra J.   Heur M.   Grabowski G.A.  

Human Molecular Genetics, Vol. 10, Iss. 16, 2001-08 ,pp. : 1639-1648

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