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
Published 2020-03-01

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
Published 2020-01-01

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
Published 2020-07-01

Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1

by Kyle B. Martin, Ian M. Williams, Celine V. Cluzeau, Antony Cougnoux, Ryan K. Dale, James R. Iben, Niamh X. Cawley, Christopher A. Wassif, Forbes D. Porter
Published 2019-12-01

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
Published 2021-10-01

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
Published 2017-07-01

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
Published 2018-09-01

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
Published 2019-12-01

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
Published 2021-09-01

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
Published 2012-01-01

Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease.

by Elena-Raluca Nicoli, Nada Al Eisa, Celine V M Cluzeau, Christopher A Wassif, James Gray, Kathryn R Burkert, David A Smith, Lauren Morris, Stephanie M Cologna, Cody J Peer, Tristan M Sissung, Constantin-Daniel Uscatu, William D Figg, William J Pavan, Charles H Vite, Forbes D Porter, Frances M Platt
Published 2016-01-01