Detalhe da pesquisa
1.
Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy.
Int J Mol Sci
; 24(5)2023 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36901983
2.
Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease.
Biochem J
; 477(2): 359-380, 2020 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31899485
3.
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
Int J Mol Sci
; 21(3)2020 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32023956
4.
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase.
BMC Bioinformatics
; 19(Suppl 15): 433, 2018 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30497360
5.
The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.
Int J Mol Sci
; 19(8)2018 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30061496
6.
E-Learning for Rare Diseases: An Example Using Fabry Disease.
Int J Mol Sci
; 18(10)2017 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28946642
7.
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.
Int J Mol Sci
; 17(12)2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27916943
8.
Reactive Species in Progeroid Syndromes and Aging-Related Processes.
Antioxid Redox Signal
; 37(1-3): 208-228, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34428933
9.
Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease.
Stem Cell Res
; 43: 101708, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32028086
10.
Generation of the Niemann-Pick type C2 patient-derived iPSC line AKOSi001-A.
Stem Cell Res
; 41: 101606, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31669975
11.
A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG.
PLoS One
; 12(12): e0189629, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29261720
12.
Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease.
PLoS One
; 11(10): e0165463, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27788225