Detalhe da pesquisa
1.
Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients.
Mol Genet Metab
; 138(2): 107508, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36709532
2.
Fatty acid synthesis configures the plasma membrane for inflammation in diabetes.
Nature
; 539(7628): 294-298, 2016 11 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27806377
3.
A novel gene editing system to treat both Tay-Sachs and Sandhoff diseases.
Gene Ther
; 27(5): 226-236, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31896760
4.
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
Mol Genet Metab
; 131(4): 405-417, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33257258
5.
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
Mol Genet Metab
; 129(4): 292-302, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32033912
6.
N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease.
J Lipid Res
; 60(8): 1410-1424, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31201291
7.
Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.
Mol Genet Metab
; 126(2): 183-187, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30172462
8.
Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B.
Mol Genet Metab
; 126(2): 139-150, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30528226
9.
Intrathecal 2-hydroxypropyl-ß-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.
Lancet
; 390(10104): 1758-1768, 2017 Oct 14.
Artigo
Inglês
| MEDLINE | ID: mdl-28803710
10.
A HILIC-MS/MS method for simultaneous quantification of the lysosomal disease markers galactosylsphingosine and glucosylsphingosine in mouse serum.
Biomed Chromatogr
; 32(7): e4235, 2018 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-29516569
11.
A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.
J Neurosci
; 36(28): 7441-52, 2016 07 13.
Artigo
Inglês
| MEDLINE | ID: mdl-27413154
12.
A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.
J Neurosci
; 35(21): 8091-106, 2015 May 27.
Artigo
Inglês
| MEDLINE | ID: mdl-26019327
13.
Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1).
Hum Mol Genet
; 23(22): 6022-33, 2014 Nov 15.
Artigo
Inglês
| MEDLINE | ID: mdl-24964810
14.
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.
Blood
; 123(1): 51-60, 2014 Jan 02.
Artigo
Inglês
| MEDLINE | ID: mdl-24235134
15.
A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid.
J Lipid Res
; 56(6): 1222-33, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25866316
16.
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1.
Hum Mol Genet
; 22(17): 3508-23, 2013 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-23666527
17.
Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann-Pick C1.
Mol Genet Metab
; 116(1-2): 75-9, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26189084
18.
Development and validation of sensitive LC-MS/MS assays for quantification of HP-ß-CD in human plasma and CSF.
J Lipid Res
; 55(7): 1537-48, 2014 07.
Artigo
Inglês
| MEDLINE | ID: mdl-24868096
19.
Palmitate and lipopolysaccharide trigger synergistic ceramide production in primary macrophages.
J Biol Chem
; 288(5): 2923-32, 2013 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-23250746
20.
Box C/D small nucleolar RNA (snoRNA) U60 regulates intracellular cholesterol trafficking.
J Biol Chem
; 288(50): 35703-13, 2013 Dec 13.
Artigo
Inglês
| MEDLINE | ID: mdl-24174535