Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann–Pick Disease, Type C1

por Cawley, Niamh X., Lyons, Anna T., Abebe, Daniel, Wassif, Christopher A., Porter, Forbes D.
Publicado 2020

Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness

por Kovarova, Martina, Wassif, Christopher A., Odom, Sandra, Liao, Katherine, Porter, Forbes D., Rivera, Juan
Publicado 2006

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

por Pergande, Melissa R., Cougnoux, Antony, Rathnayake, Rathnayake A. C., Porter, Forbes D., Cologna, Stephanie M.
Publicado 2019

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

por Yergey, Alfred L., Blank, Paul S., Cologna, Stephanie M., Backlund, Peter S., Porter, Forbes D., Darling, Allan J.
Publicado 2017

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

por Yergey, Alfred L., Blank, Paul S., Cologna, Stephanie M., Backlund, Peter S., Porter, Forbes D., Darling, Allan J.
Publicado 2018

Disruption of Dhcr7 and Insig1/2 in cholesterol metabolism causes defects in bone formation and homeostasis through primary cilium formation

por Suzuki, Akiko, Ogata, Kenichi, Yoshioka, Hiroki, Shim, Junbo, Wassif, Christopher A., Porter, Forbes D., Iwata, Junichi
Publicado 2020

SAT-350 Comparative Proteomic Analysis of Various Forms of Bilateral Adrenocortical Hyperplasia

por Berthon, Annabel, Cologna, Stephanie M., Blank, Paul S., Hannah-Shmouni, Fady, Galetaki, Despoina, Porter, Forbes D, Stratakis, Constantine
Publicado 2019

Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology

por Cawley, Niamh X., Sojka, Caitlin, Cougnoux, Antony, Lyons, Anna T., Nicoli, Elena‐Raluca, Wassif, Christopher A., Porter, Forbes D.
Publicado 2020

Intracellular sphingosine releases calcium from lysosomes

por Höglinger, Doris, Haberkant, Per, Aguilera-Romero, Auxiliadora, Riezman, Howard, Porter, Forbes D, Platt, Frances M, Galione, Antony, Schultz, Carsten
Publicado 2015

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

por Li, Rong, Pradhan, Manisha, Xu, Miao, Roeder, Amanda, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Porter, Forbes D., Zheng, Wei
Publicado 2020

Phenotype assessment for neurodegenerative murine models with ataxia and application to Niemann–Pick disease, type C1

por Yerger, Julia, Cougnoux, Antony C., Abbott, Craig B., Luke, Rachel, Clark, Tannia S., Cawley, Niamh X., Porter, Forbes D., Davidson, Cristin D.
Publicado 2022

Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK

por Dai, Sheng, Dulcey, Andrés E., Hu, Xin, Wassif, Christopher A., Porter, Forbes D., Austin, Christopher P., Ory, Daniel S., Marugan, Juan, Zheng, Wei
Publicado 2017

Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process

por Wang, Chao, Scott, Samantha M., Subramanian, Kanagaraj, Loguercio, Salvatore, Zhao, Pei, Hutt, Darren M., Farhat, Nicole Y., Porter, Forbes D., Balch, William E.
Publicado 2019

Complex N-Linked Glycosylation: A Potential Modifier of Niemann–Pick Disease, Type C1 Pathology

por Cawley, Niamh X., Lyons, Anna T., Abebe, Daniel, Luke, Rachel, Yerger, Julia, Telese, Rebecca, Wassif, Christopher A., Bailey-Wilson, Joan E., Porter, Forbes D.
Publicado 2022

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

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

Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease

por Walkley, Steven U., Davidson, Cristin D., Jacoby, Jonathan, Marella, Philip D., Ottinger, Elizabeth A., Austin, Christopher P., Porter, Forbes D., Vite, Charles H., Ory, Daniel S.
Publicado 2016

A Placebo-Controlled Trial of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome

por Wassif, Christopher A., Kratz, Lisa, Sparks, Susan E., Wheeler, Courtney, Bianconi, Simona, Gropman, Andrea, Calis, Karim A., Kelley, Richard I., Tierney, Elaine, Porter, Forbes D.
Publicado 2016

Single Cell Transcriptome Analysis of Niemann–Pick Disease, Type C1 Cerebella

por Cougnoux, Antony, Yerger, Julia C., Fellmeth, Mason, Serra-Vinardell, Jenny, Martin, Kyle, Navid, Fatemeh, Iben, James, Wassif, Christopher A., Cawley, Niamh X., Porter, Forbes D.
Publicado 2020

Neurofilament Light Chain Levels Correlate with Clinical Measures in CLN3 Disease

por Dang Do, An N., Sinaii, Ninet, Masvekar, Ruturaj R., Baker, Eva H., Thurm, Audrey E., Soldatos, Ariane G., Bianconi, Simona E., Bielekova, Bibiana, Porter, Forbes D.
Publicado 2020

Inhibition of HMG CoA reductase reveals an unexpected role for cholesterol during PGC migration in the mouse

por Ding, Jiaxi, Jiang, DeChen, Kurczy, Michael, Nalepka, Jennifer, Dudley, Brian, Merkel, Erin I, Porter, Forbes D, Ewing, Andrew G, Winograd, Nicholas, Burgess, James, Molyneaux, Kathleen
Publicado 2008