Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann–Pick Disease, Type C1 by Niamh X. Cawley, Anna T. Lyons, Daniel Abebe, Christopher A. Wassif, Forbes D. Porter

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

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Complex N-Linked Glycosylation: A Potential Modifier of Niemann–Pick Disease, Type C1 Pathology by Niamh X. Cawley, Anna T. Lyons, Daniel Abebe, Rachel Luke, Julia Yerger, Rebecca Telese, Christopher A. Wassif, Joan E. Bailey-Wilson, Forbes D. Porter

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Single Cell Transcriptome Analysis of Niemann–Pick Disease, Type C1 Cerebella by Antony Cougnoux, Julia C. Yerger, Mason Fellmeth, Jenny Serra-Vinardell, Kyle Martin, Fatemeh Navid, James Iben, Christopher A. Wassif, Niamh X. Cawley, Forbes D. Porter

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

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

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

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

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

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

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

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

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

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