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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Rescue of neurodegeneration in Niemann–Pick C mice by a prion-promoter-driven Npc1 cDNA transgene

By Loftus S.K.  

Human Molecular Genetics, Vol. 11, Iss. 24, 2002-09 ,pp. : 3107-3114

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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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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