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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Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking

By Hadano Shinji   Benn Susanna C.   Otomo Asako   Sudo Katsuko   Kunita Ryota   Suzuki-Utsunomiya Kyoko   Mizumura Hikaru   Shefner Jeremy M.   Cox Gregory A.   Iwakura Yoichiro   Brown Robert H.   Ikeda Joh-E  

Human Molecular Genetics, Vol. 15, Iss. 2, 2006-01 ,pp. : 233-250

Oxford University Press

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Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits

By Schultheis Patrick J.   Fleming Sheila M.   Clippinger Amy K.   Lewis Jada   Tsunemi Taiji   Giasson Benoit   Dickson Dennis W.   Mazzulli Joseph R.   Bardgett Mark E.   Haik Kristi L.   Ekhator Osunde   Chava Anil Kumar   Howard John   Gannon Matt   Hoffman Elizabeth   Chen Yinhuai   Prasad Vikram   Linn Stephen C.   Tamargo Rafael J.   Westbroek Wendy   Sidransky Ellen   Krainc Dimitri   Shull Gary E.  

Human Molecular Genetics, Vol. 22, Iss. 10, 2013-05 ,pp. : 2067-2082

Oxford University Press

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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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