Detalhe da pesquisa
1.
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Genet Med
; 24(11): 2399-2407, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083289
2.
Fluorometric coupled enzyme assay for N-sulfotransferase activity of N-deacetylase/N-sulfotransferase (NDST).
Glycobiology
; 31(9): 1093-1101, 2021 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34080004
3.
Transcutaneous electrical nerve stimulation as a novel method of remote preconditioning: in vitro validation in an animal model and first human observations.
Basic Res Cardiol
; 109(3): 406, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24604614
4.
Synthesis of 1,5-dideoxy-1,5-iminoribitol C-glycosides through a nitrone-olefin cycloaddition domino strategy: identification of pharmacological chaperones of mutant human lysosomal ß-galactosidase.
J Org Chem
; 79(10): 4398-404, 2014 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-24735108
5.
Remote cardioprotection by transfer of coronary effluent from ischemic preconditioned rabbit heart preserves mitochondrial integrity and function via adenosine receptor activation.
Cardiovasc Drugs Ther
; 28(1): 7-17, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24018748
6.
Interaction of δ and κ opioid receptors with adenosine A1 receptors mediates cardioprotection by remote ischemic preconditioning.
J Mol Cell Cardiol
; 60: 142-50, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23608604
7.
Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells.
Sci Rep
; 13(1): 22392, 2023 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38104212
8.
Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants.
Glycobiology
; 22(4): 492-503, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22061999
9.
Remote cardioprotection by direct peripheral nerve stimulation and topical capsaicin is mediated by circulating humoral factors.
Basic Res Cardiol
; 107(2): 241, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22231674
10.
Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant ß-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant.
Mol Genet Metab
; 106(3): 323-9, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22592100
11.
Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy.
Mol Genet Metab
; 107(1-2): 203-12, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22784478
12.
An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants).
Mol Genet Metab
; 102(1): 6-12, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20926324
13.
Remote preconditioning provides potent cardioprotection via PI3K/Akt activation and is associated with nuclear accumulation of ß-catenin.
Clin Sci (Lond)
; 120(10): 451-62, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21143191
14.
A sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysates.
Glycobiology
; 20(3): 356-65, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19917668
15.
Pretreatment with the nitric oxide donor SNAP or nerve transection blocks humoral preconditioning by remote limb ischemia or intra-arterial adenosine.
Am J Physiol Heart Circ Physiol
; 299(5): H1598-603, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20802131
16.
Fluorous iminoalditols: a new family of glycosidase inhibitors and pharmacological chaperones.
Chembiochem
; 11(14): 2026-33, 2010 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-20715263
17.
Synthesis of lipophilic 1-deoxygalactonojirimycin derivatives as D-galactosidase inhibitors.
Beilstein J Org Chem
; 6: 21, 2010 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20502610
18.
Transient limb ischaemia remotely preconditions through a humoral mechanism acting directly on the myocardium: evidence suggesting cross-species protection.
Clin Sci (Lond)
; 117(5): 191-200, 2009 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-19175358
19.
Isofagomine induced stabilization of glucocerebrosidase.
Chembiochem
; 9(16): 2643-9, 2008 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-18932186
20.
Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.
Chembiochem
; 9(16): 2650-62, 2008 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-18972510