Detalles de la búsqueda
1.
A maternal-effect Padi6 variant causes nuclear and cytoplasmic abnormalities in oocytes, as well as failure of epigenetic reprogramming and zygotic genome activation in embryos.
Genes Dev
; 38(3-4): 131-150, 2024 Mar 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38453481
2.
Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment.
Int J Mol Sci
; 24(10)2023 May 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-37240412
3.
Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease.
Int J Mol Sci
; 24(2)2023 Jan 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36674610
4.
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy.
J Med Genet
; 58(11): 783-788, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32938693
5.
Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones.
Int J Mol Sci
; 23(9)2022 May 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35563496
6.
Mechanistic Insight into the Mode of Action of Acid ß-Glucosidase Enhancer Ambroxol.
Int J Mol Sci
; 23(7)2022 Mar 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-35408914
7.
Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease.
Biochem J
; 477(2): 359-380, 2020 01 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-31899485
8.
Bioinformatics tools for marine biotechnology: a practical tutorial with a metagenomic approach.
BMC Bioinformatics
; 21(Suppl 10): 348, 2020 Aug 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-32838733
9.
Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations.
Int J Mol Sci
; 21(2)2020 Jan 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-31940970
10.
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
Int J Mol Sci
; 21(3)2020 Jan 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-32023956
11.
D2A sequence of the urokinase receptor induces cell growth through αvß3 integrin and EGFR.
Cell Mol Life Sci
; 75(10): 1889-1907, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29184982
12.
ß-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG.
Int J Mol Sci
; 20(17)2019 Aug 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-31454904
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30497360
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30061496
15.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-27916943
16.
Conformational response to ligand binding in phosphomannomutase2: insights into inborn glycosylation disorder.
J Biol Chem
; 289(50): 34900-10, 2014 Dec 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-25324542
17.
A thermodynamic assay to test pharmacological chaperones for Fabry disease.
Biochim Biophys Acta
; 1840(3): 1214-24, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-24361605
18.
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.
Hum Mol Genet
; 22(3): 544-57, 2013 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-23118352
19.
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.
J Hum Genet
; 60(6): 287-93, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25809938
20.
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.
Hum Mol Genet
; 21(1): 10-25, 2012 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-21920939