Detalles de la búsqueda
1.
Effects of 6-O-α-maltosyl-ß cyclodextrin on lipid metabolism in Npc1-deficient Chinese hamster ovary cells.
Mol Genet Metab
; 137(3): 239-248, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36182715
2.
Kv1.5 channel mediates monosodium urate-induced activation of NLRP3 inflammasome in macrophages and arrhythmogenic effects of urate on cardiomyocytes.
Mol Biol Rep
; 49(7): 5939-5952, 2022 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-35368226
3.
Development of a Highly Sensitive and Rapid Liquid Chromatography-Tandem Mass Spectrometric Method Using a Basic Mobile Phase Additive to Determine the Characteristics of the Urinary Metabolites for Niemann-Pick Disease Type C.
Biol Pharm Bull
; 45(9): 1259-1268, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36047194
4.
sp2-Iminosugars targeting human lysosomal ß-hexosaminidase as pharmacological chaperone candidates for late-onset Tay-Sachs disease.
J Enzyme Inhib Med Chem
; 37(1): 1364-1374, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-35575117
5.
Metabolic Alteration Analysis of Steroid Hormones in Niemann-Pick Disease Type C Model Cell Using Liquid Chromatography/Tandem Mass Spectrometry.
Int J Mol Sci
; 23(8)2022 Apr 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-35457276
6.
GBA haploinsufficiency accelerates alpha-synuclein pathology with altered lipid metabolism in a prodromal model of Parkinson's disease.
Hum Mol Genet
; 28(11): 1894-1904, 2019 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30689867
7.
Intracerebroventricular Treatment with 2-Hydroxypropyl-ß-Cyclodextrin Decreased Cerebellar and Hepatic Glycoprotein Nonmetastatic Melanoma Protein B (GPNMB) Expression in Niemann-Pick Disease Type C Model Mice.
Int J Mol Sci
; 22(1)2021 Jan 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33466390
8.
Potential COVID-19 therapeutics from a rare disease: weaponizing lipid dysregulation to combat viral infectivity.
J Lipid Res
; 61(7): 972-982, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32457038
9.
Development of a Diagnostic Screening Strategy for Niemann-Pick Diseases Based on Simultaneous Liquid Chromatography-Tandem Mass Spectrometry Analyses of N-Palmitoyl-O-phosphocholine-serine and Sphingosylphosphorylcholine.
Biol Pharm Bull
; 43(9): 1398-1406, 2020 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32581190
10.
Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex.
Int J Mol Sci
; 21(23)2020 Nov 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-33266180
11.
Differential Effects of 2-Hydroxypropyl-Cyclodextrins on Lipid Accumulation in Npc1-Null Cells.
Int J Mol Sci
; 21(3)2020 Jan 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-32019132
12.
Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C.
Int J Mol Sci
; 20(20)2019 Oct 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31658747
13.
In Vitro and In Vivo Evaluation of 6-O-α-Maltosyl-ß-Cyclodextrin as a Potential Therapeutic Agent Against Niemann-Pick Disease Type C.
Int J Mol Sci
; 20(5)2019 Mar 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30845767
14.
Restoration of mutant hERG stability by inhibition of HDAC6.
J Mol Cell Cardiol
; 115: 158-169, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29355491
15.
Normalization of Hepatic Homeostasis in the Npc1nmf164 Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat.
J Biol Chem
; 292(11): 4395-4410, 2017 03 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-28031458
16.
Probing the Inhibitor versus Chaperone Properties of sp²-Iminosugars towards Human ß-Glucocerebrosidase: A Picomolar Chaperone for Gaucher Disease.
Molecules
; 23(4)2018 04 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-29673163
17.
In vitro evaluation of 2-hydroxyalkylated ß-cyclodextrins as potential therapeutic agents for Niemann-Pick Type C disease.
Mol Genet Metab
; 118(3): 214-219, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27184436
18.
M3 Muscarinic Receptor Signaling Stabilizes a Novel Mutant Human Ether-a-Go-Go-Related Gene Channel Protein via Phosphorylation of Heat Shock Factor 1 in Transfected Cells.
Circ J
; 80(12): 2443-2452, 2016 Nov 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-27803431
19.
E3 ligase CHIP and Hsc70 regulate Kv1.5 protein expression and function in mammalian cells.
J Mol Cell Cardiol
; 86: 138-46, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-26232501
20.
Endoplasmic reticulum-associated degradation of Niemann-Pick C1: evidence for the role of heat shock proteins and identification of lysine residues that accept ubiquitin.
J Biol Chem
; 289(28): 19714-25, 2014 Jul 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-24891511