Niemann-Pick type C disease: mutations associated with severe and mild cellular cholesterol trafficking alterations

By Ribeiro Isaura   Marcão Ana   Amaral Olga   Sá Miranda Maria   Vanier Marie   Millat Gilles  

Human Genetics, Vol. 109, Iss. 1, 2001-07 ,pp. : 24-32

Springer Publishing Company

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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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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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Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann–Pick C disease mouse

By Liu Yujing   Wu Yun-Ping  

Human Molecular Genetics, Vol. 9, Iss. 7, 2000-04 ,pp. : 1087-1092

Oxford University Press

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