Malformation syndromes caused by disorders of cholesterol synthesis

by Forbes D. Porter, Gail E. Herman
Published 2011-01-01

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

Differential Proteomics Reveals miR-155 as a Novel Indicator of Liver and Spleen Pathology in the Symptomatic Niemann-Pick Disease, Type C1 Mouse Model

by Melissa R. Pergande, Antony Cougnoux, Rathnayake A. C. Rathnayake, Forbes D. Porter, Stephanie M. Cologna
Published 2019-03-01

Correction: Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1.

by Alfred L Yergey, Paul S Blank, Stephanie M Cologna, Peter S Backlund, Forbes D Porter, Allan J Darling
Published 2018-01-01

Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1.

by Alfred L Yergey, Paul S Blank, Stephanie M Cologna, Peter S Backlund, Forbes D Porter, Allan J Darling
Published 2017-01-01

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

Intracellular sphingosine releases calcium from lysosomes

by Doris Höglinger, Per Haberkant, Auxiliadora Aguilera-Romero, Howard Riezman, Forbes D Porter, Frances M Platt, Antony Galione, Carsten Schultz
Published 2015-11-01

An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene

by Rong Li, Manisha Pradhan, Miao Xu, Amanda Roeder, Jeanette Beers, Jizhong Zou, Chengyu Liu, Forbes D. Porter, Wei Zheng
Published 2020-04-01

Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process

by Chao Wang, Samantha M. Scott, Kanagaraj Subramanian, Salvatore Loguercio, Pei Zhao, Darren M. Hutt, Nicole Y. Farhat, Forbes D. Porter, William E. Balch
Published 2019-11-01

A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid

by Rohini Sidhu, Hui Jiang, Nicole Y. Farhat, Nuria Carrillo-Carrasco, Myra Woolery, Elizabeth Ottinger, Forbes D. Porter, Jean E. Schaffer, Daniel S. Ory, Xuntian Jiang
Published 2015-06-01

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

Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1

by Meghann W. Lau, Ryan W. Lee, Robin Miyamoto, Eun Sol Jung, Nicole Yanjanin Farhat, Shoko Yoshida, Susumu Mori, Andrea Gropman, Eva H. Baker, Forbes D. Porter
Published 2016-09-01

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

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling

by Martin Fan, Rohini Sidhu, Hideji Fujiwara, Brett Tortelli, Jessie Zhang, Cristin Davidson, Steven U. Walkley, Jessica H. Bagel, Charles Vite, Nicole M. Yanjanin, Forbes D. Porter, Jean E. Schaffer, Daniel S. Ory
Published 2013-10-01

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

A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1

by Margaret Reynolds, Laura A. Linneman, Sofia Luna, Barbara B. Warner, Yumirle P. Turmelle, Sakil S. Kulkarni, Xuntian Jiang, Geetika Khanna, Marwan Shinawi, Forbes D. Porter, Daniel S. Ory, F. Sessions Cole, Patricia I. Dickson
Published 2021-09-01

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