Results 141 to 150 of about 12,273 (193)

The Effects of Combined Therapy With Metformin and Hydroxypropyl-β-Cyclodextrin in a Mouse Model of Niemann-Pick Disease Type C1. [PDF]

Front Pharmacol, 2021
Du J, Liu X, Zhang Y, Han X, Ma C, Liu Y, Guan L, Qiao L, Lin J.   +8 more
europepmc   +1 more source

Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics. [PDF]

Hum Mol Genet, 2021
Rodriguez-Gil JL, Baxter LL, Watkins-Chow DE, Johnson NL, Davidson CD, Carlson SR, Incao AA, NISC Comparative Sequencing Program, Wallom KL, Farhat NY, Platt FM, Dale RK, Porter FD, Pavan WJ.   +13 more
europepmc   +1 more source

Assessment of FDA-Approved Drugs as a Therapeutic Approach for Niemann-Pick Disease Type C1 Using Patient-Specific iPSC-Based Model Systems. [PDF]

Cells, 2022
Völkner C, Pantoom S, Liedtke M, Lukas J, Hermann A, Frech MJ.   +5 more
europepmc   +1 more source

Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trial. [PDF]

Mol Genet Metab Rep, 2023
Sharma R, Hastings C, Staretz-Chacham O, Raiman J, Paucar M, Spiegel R, Murray B, Hurst B, Liu B, Kjems L, Hrynkow S.   +10 more
europepmc   +1 more source

Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1. [PDF]

Mol Genet Metab
Agrawal N, Bianconi S, Jaeger R, Farhat NY, Alexander DM, Sinaii N, Hadigan C, Berry-Kravis E, Porter FD.   +8 more
europepmc   +1 more source

Gender-Specific Effects of Two Treatment Strategies in a Mouse Model of Niemann-Pick Disease Type C1. [PDF]

Int J Mol Sci, 2021
Holzmann C, Witt M, Rolfs A, Antipova V, Wree A.   +4 more
europepmc   +1 more source

Normalization of hepatic homeostasis in the Npc1nmf164 mouse model of Niemann-Pick type C disease treated with the histone deacetylase inhibitor vorinostat [PDF]

, 2017
al, et, Ory, Daniel S.
core   +1 more source

Serum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1. [PDF]

Genet Med Open
Cawley NX, Zhou R, Mylvara A, Padilla CJ, Alexander D, Farhat N, Alvarez C, Cougnoux A, Berry-Kravis E, Cologna SM, Liu F, Porter FD.   +11 more
europepmc   +1 more source

Comparison of neonatal systemic and intracerebroventricular AAV9 gene therapy delivery demonstrating improved behavioral and phenotypic outcomes in a mouse model of Niemann-Pick disease, type C1. [PDF]

PLoS One
Epstein BE, Soden GM, Incao AA, Mylvara A, Flynn J, Ozsolak F, Pavan WJ.   +6 more
europepmc   +1 more source

Intracellular cholesterol transport proteins: roles in health and disease [PDF]

, 2016
Graham, Annette, Soffientini, Ugo
core   +1 more source