Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann–Pick type C disease

By Blom T.S.  

Human Molecular Genetics, Vol. 12, Iss. 3, 2003-02 ,pp. : 257-272

Oxford University Press

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Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration

By Elrick Matthew J.   Pacheco Chris D.   Yu Ting   Dadgar Nahid   Shakkottai Vikram G.   Ware Christopher   Paulson Henry L.   Lieberman Andrew P.  

Human Molecular Genetics, Vol. 19, Iss. 5, 2010-03 ,pp. : 837-847

Oxford University Press

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A novel mouse model of Niemann–Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations

By Maue Robert A.   Burgess Robert W.   Wang Bing   Wooley Christine M.   Seburn Kevin L.   Vanier Marie T.   Rogers Maximillian A.   Chang Catherine C.   Chang Ta-Yuan   Harris Brent T.   Graber David J.   Penatti Carlos A.A.   Porter Donna M.   Szwergold Benjamin S.   Henderson Leslie P.   Totenhagen John W.   Trouard Theodore P.   Borbon Ivan A.   Erickson Robert P.  

Human Molecular Genetics, Vol. 21, Iss. 4, 2012-02 ,pp. : 730-750

Oxford University Press

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Tau deletion exacerbates the phenotype of NiemannPick type C mice and implicates autophagy in pathogenesis

By Pacheco Chris D.   Elrick Matthew J.   Lieberman Andrew P.  

Human Molecular Genetics, Vol. 18, Iss. 5, 2009-03 ,pp. : 956-965

Oxford University Press

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Impaired proteolysis underlies autophagic dysfunction in Niemann–Pick type C disease

By Elrick Matthew J.   Yu Ting   Chung Chan   Lieberman Andrew P.  

Human Molecular Genetics, Vol. 21, Iss. 22, 2012-11 ,pp. : 4876-4887

Oxford University Press

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