Results 131 to 140 of about 16,701 (225)

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

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

The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein.

American Journal of Pathology, 2005
M. Harada, T. Kawaguchi, Hiroto Kumemura, K. Terada, H. Ninomiya, E. Taniguchi, S. Hanada, Shinji Baba, M. Maeyama, H. Koga, T. Ueno, K. Furuta, T. Suganuma, T. Sugiyama, M. Sata   +14 more
semanticscholar   +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

Modulation of glutamate metabolism in Niemann-pick disease type C1 mice. [PDF]

Mol Genet Metab Rep
Cougnoux A, Alvarez CS, Maria AG, Hernandez E, Cawley NX, Davidson CD, Porter FD.   +6 more
europepmc   +1 more source

Effects of lipid-lowering drugs on epilepsy and its subtypes: A drug-target Mendelian randomization study. [PDF]

Medicine (Baltimore)
Wang Y, Huang S.
europepmc   +1 more source

Causal effects of lipid-lowering drug targets on psychiatric disorders: A drug-target Mendelian randomization study. [PDF]

J Int Med Res
Wang Y, Liu X, Huang S.
europepmc   +1 more source

A murine Niemann-Pick C1 I1061T knock-In model recapitulates the pathological features of the most prevalent human disease allele [PDF]

, 2015
Chacko, Anita, Chen, Zhouji, et al,, Fujiwara, Hideji, Ory, Daniel S, Praggastis, Maria, Schaffer, Jean E, Sidhu, Rohini, Tortelli, Brett, Zhang, Jessie   +9 more
core   +2 more sources

Early Diagnosis of Nieman-Pick Disease Type C and Rapid Response of Gelastic Cataplexy to Treatment With N-Acetyl-L-Leucine: A Case Report. [PDF]

Am J Case Rep
Rojnueangnit K, Puttamanee S, Intarakhao S, Khusiwilai K.   +3 more
europepmc   +1 more source

Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathway [version 1; referees: 2 approved, 2 approved with reservations] [PDF]

, 2016
et al,, Ory, Daniel S
core   +1 more source

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease [PDF]

, 2018
et al,, Jiang, Xuntian, Ory, Daniel S
core   +1 more source