Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.
Scientific Reports
Baxter, Laura L LL; Watkins-Chow, Dawn E DE; Johnson, Nicholas L NL; Farhat, Nicole Y NY; Platt, Frances M FM; Dale, Ryan K RK; Porter, Forbes D FD; Pavan, William J WJ; Rodriguez-Gil, Jorge L JL
Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.
Scientific Reports
Baxter, Laura L LL; Watkins-Chow, Dawn E DE; Johnson, Nicholas L NL; Farhat, Nicole Y NY; Platt, Frances M FM; Dale, Ryan K RK; Porter, Forbes D FD; Pavan, William J WJ; Rodriguez-Gil, Jorge L JL
Unbiased yeast screens identify cellular pathways affected in Niemann-Pick disease type C.
Life Science Alliance
Colaco, Alexandria A; Fernández-Suárez, María E ME; Shepherd, Dawn D; Gal, Lihi L; Bibi, Chen C; Chuartzman, Silvia S; Diot, Alan A; Morten, Karl K; Eden, Emily E; Porter, Forbes D FD; Poulton, Joanna J; Platt, Nick N; Schuldiner, Maya M; Platt, Frances M FM
Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.
Journal Of Inherited Metabolic Disease
Colaco, Alexandria A; Kaya, Ecem E; Adriaenssens, Elias E; Davis, Lianne C LC; Zampieri, Stefania S; Fernández-Suárez, María E ME; Tan, Chong Y CY; Deegan, Patrick B PB; Porter, Forbes D FD; Galione, Antony A; Bembi, Bruno B; Dardis, Andrea A; Platt, Frances M FM
Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.
Nature Communications
Wang, Chao C; Scott, Samantha M SM; Subramanian, Kanagaraj K; Loguercio, Salvatore S; Zhao, Pei P; Hutt, Darren M DM; Farhat, Nicole Y NY; Porter, Forbes D FD; Balch, William E WE
Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells.
Journal Of Lipid Research
Pipalia, Nina H NH; Subramanian, Kanagaraj K; Mao, Shu S; Ralph, Harold H; Hutt, Darren M DM; Scott, Samantha M SM; Balch, William E WE; Maxfield, Frederick R FR
FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts.
Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Newton, Jason J; Hait, Nitai C NC; Maceyka, Michael M; Colaco, Alexandria A; Maczis, Melissa M; Wassif, Christopher A CA; Cougnoux, Antony A; Porter, Forbes D FD; Milstien, Sheldon S; Platt, Nicholas N; Platt, Frances M FM; Spiegel, Sarah S
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
Febs Letters
Mazzacuva, Francesca F; Mills, Philippa P; Mills, Kevin K; Camuzeaux, Stephane S; Gissen, Paul P; Nicoli, Elena-Raluca ER; Wassif, Christopher C; Te Vruchte, Danielle D; Porter, Forbes D FD; Maekawa, Masamitsu M; Mano, Nariyasu N; Iida, Takashi T; Platt, Frances F; Clayton, Peter T PT