High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets von Wassif, Christopher A., Cross, Joanna L., Iben, James, Sanchez-Pulido, Luis, Cougnoux, Antony, Platt, Frances M., Ory, Daniel S., Ponting, Chris P., Bailey-Wilson, Joan E., Biesecker, Leslie G., Porter, Forbes D.

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Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention von Cougnoux, Antony, Drummond, Rebecca A, Collar, Amanda L, Iben, James R, Salman, Alexander, Westgarth, Harrison, Wassif, Christopher A, Cawley, Niamh X, Farhat, Nicole Y, Ozato, Keiko, Lionakis, Michail S, Porter, Forbes D

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Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology von Cawley, Niamh X, Sojka, Caitlin, Cougnoux, Antony, Lyons, Anna T, Nicoli, Elena-Raluca, Wassif, Christopher A, Porter, Forbes D

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Cerebrospinal Fluid Protein Biomarker Discovery in CLN3 von Dang Do, An N., Sleat, David E., Campbell, Kiersten, Johnson, Nicholas L., Zheng, Haiyan, Wassif, Christopher A., Dale, Ryan K., Porter, Forbes D.

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A differential proteomics study of cerebrospinal fluid from individuals with Niemann‐Pick disease, Type C1 von Li, Wenping, Pergande, Melissa R., Crutchfield, Christopher A., Searle, Brian C., Backlund, Peter S., Picache, Jaqueline A., Burkert, Kathryn, Yanjanin‐Farhat, Nicole M., Blank, Paul S., Toth, Cynthia L., Wassif, Christopher A., Porter, Forbes D., Cologna, Stephanie M.

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FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann‐Pick type C mutant fibroblasts von Newton, Jason, Hait, Nitai C., Maceyka, Michael, Colaco, Alexandria, Maczis, Melissa, Wassif, Christopher A., Cougnoux, Antony, Porter, Forbes D., Milstien, Sheldon, Platt, Nicholas, Platt, Frances M., Spiegel, Sarah

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Six induced pluripotent stem cell lines from fibroblasts of individuals with CLN3-related conditions von Dwojak, Ewelina, O’Mard, Danielle, Zou, Jizhong, Wassif, Christopher A., Burkett, Sandra, Eckhaus, Michael, Rueda Faucz, Fabio, Padilla, Cameron, Villasmil, Rafael, Zheng, Wei, Dang Do, An N.

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A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1 von Prabhu, Anika V, Kang, Insung, De Pace, Raffaella, Wassif, Christopher A, Fujiwara, Hideji, Kell, Pamela, Jiang, Xuntian, Ory, Daniel S, Bonifacino, Juan S, Ward, Michael E, Porter, Forbes D

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Microarray expression analysis and identification of serum biomarkers for Niemann―Pick disease, type C1 von CLUZEAU, Celine V. M, WATKINS-CHOW, Dawn E, PAVAN, William J, PORTER, Forbes D, RAO FU, BORATE, Bhavesh, YANJANIN, Nicole, DAIL, Michelle K, DAVIDSON, Cristin D, WALKLEY, Steven U, ORY, Daniel S, WASSIF, Christopher A

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Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds von Tseng, Wei-Chia, Loeb, Hannah E, Pei, Wuhong, Tsai-Morris, Chon-Hwa, Xu, Lisha, Cluzeau, Celine V, Wassif, Christopher A, Feldman, Benjamin, Burgess, Shawn M, Pavan, William J, Porter, Forbes D

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Unique molecular signature in mucolipidosis type IV microglia von Cougnoux, Antony, Drummond, Rebecca A, Fellmeth, Mason, Navid, Fatemeh, Collar, Amanda L, Iben, James, Kulkarni, Ashok B, Pickel, James, Schiffmann, Raphael, Wassif, Christopher A, Cawley, Niamh X, Lionakis, Michail S, Porter, Forbes D

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NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls von Probert, Fay, Ruiz-Rodado, Victor, Vruchte, Danielle te, Nicoli, Elena-Raluca, Claridge, Tim D. W., Wassif, Christopher A., Farhat, Nicole, Porter, Forbes D., Platt, Frances M., Grootveld, Martin

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Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits von Tierney, Elaine, Remaley, Alan T., Thurm, Audrey, Jager, Leah R., Wassif, Christopher A., Kratz, Lisa E., Bailey-Wilson, Joan E., Bukelis, Irena, Sarphare, Geeta, Jung, Eun Sol, Brand, Boudewien, Noah, Kelly K., Porter, Forbes D.

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Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight von Cologna, Stephanie M, Jiang, Xiao-Sheng, Backlund, Peter S, Cluzeau, Celine V M, Dail, Michelle K, Yanjanin, Nicole M, Siebel, Stephan, Toth, Cynthia L, Jun, Hyun-sik, Wassif, Christopher A, Yergey, Alfred L, Porter, Forbes D

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Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease von Nicoli, Elena-Raluca, Al Eisa, Nada, Cluzeau, Celine V M, Wassif, Christopher A, Gray, James, Burkert, Kathryn R, Smith, David A, Morris, Lauren, Cologna, Stephanie M, Peer, Cody J, Sissung, Tristan M, Uscatu, Constantin-Daniel, Figg, William D, Pavan, William J, Vite, Charles H, Porter, Forbes D, Platt, Frances M

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Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1 von Campbell, Kiersten, Cawley, Niamh X, Luke, Rachel, Scott, Katelin E J, Johnson, Nicholas, Farhat, Nicole Y, Alexander, Derek, Wassif, Christopher A, Li, Wenping, Cologna, Stephanie M, Berry-Kravis, Elizabeth, Do, An Dang, Dale, Ryan K, Porter, Forbes D

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Cholesterol Biosynthesis and Trafficking in Cortisol-Producing Lesions of the Adrenal Cortex von London, Edra, Wassif, Christopher A, Horvath, Anelia, Tatsi, Christina, Angelousi, Anna, Karageorgiadis, Alexander S, Porter, Forbes D, Stratakis, Constantine A

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Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1 von Fu, Rao, Wassif, Christopher A, Yanjanin, Nicole M, Watkins-Chow, Dawn E, Baxter, Laura L, Incao, Art, Liscum, Laura, Sidhu, Rohini, Firnkes, Sally, Graham, Mark, Ory, Daniel S, Porter, Forbes D, Pavan, William J

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Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency von Rahhal, Samar, Farmer, Cristan, Thurm, Audrey, Wassif, Christopher A., Cawley, Niamh X., Perreault, John, Dang Do, An, Bianconi, Simona, Hannah-Shmouni, Fady, Guthrie, Whitney, Cubit, Laura S., Miller, Judith S., Sutton, V. Reid, Koeberl, Dwight, Porter, Forbes D.

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Corrigendum to “Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency” von Rahhal, Samar, Farmer, Cristan, Thurm, Audrey, Wassif, Christopher A., Cawley, Niamh X., Perreault, John, Dang Do, An, Bianconi, Simona, Hannah-Shmouni, Fady, Guthrie, Whitney, Cubit, Laura S., Miller, Judith S., Sutton, V. Reid, Koeberl, Dwight, Porter, Forbes D.

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