Detalhe da pesquisa
1.
Harnessing the Power of Purple Sweet Potato Color and Myo-Inositol to Treat Classic Galactosemia.
Int J Mol Sci
; 23(15)2022 Aug 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35955788
2.
Integrated stress response control of granulosa cell translation and proliferation during normal ovarian follicle development.
Mol Hum Reprod
; 27(8)2021 08 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34314477
3.
Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia.
Mol Ther
; 28(1): 304-312, 2020 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31604675
4.
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Mol Genet Metab
; 129(3): 171-176, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31954591
5.
Discovery of Novel Inhibitors Targeting Multi-UDP-hexose Pyrophosphorylases as Anticancer Agents.
Molecules
; 25(3)2020 Feb 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32028604
6.
A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality.
J Inherit Metab Dis
; 42(5): 998-1007, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31077402
7.
Discovery of novel inhibitors of human galactokinase by virtual screening.
J Comput Aided Mol Des
; 33(4): 405-417, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30806949
8.
Effect of genotype on galactose-1-phosphate in classic galactosemia patients.
Mol Genet Metab
; 125(3): 258-265, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30172461
9.
Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency.
J Inherit Metab Dis
; 40(1): 131-137, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27783170
10.
Galactose-1 phosphate uridylyltransferase (GalT) gene: A novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblasts.
Biochem Biophys Res Commun
; 470(1): 205-212, 2016 Jan 29.
Artigo
Inglês
| MEDLINE | ID: mdl-26773505
11.
Structure activity relationships of human galactokinase inhibitors.
Bioorg Med Chem Lett
; 25(3): 721-7, 2015 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25553891
12.
Whole-body galactose oxidation as a robust functional assay to assess the efficacy of gene-based therapies in a mouse model of Galactosemia.
Mol Ther Methods Clin Dev
; 32(1): 101191, 2024 Mar 14.
Artigo
Inglês
| MEDLINE | ID: mdl-38352271
13.
The hypergonadotropic hypogonadism conundrum of classic galactosemia.
Hum Reprod Update
; 29(2): 246-258, 2023 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36512573
14.
AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).
Transl Res
; 257: 1-14, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36709920
15.
Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.
Hum Mutat
; 33(7): 1107-15, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22461411
16.
Formal Synthesis of 4-diphosphocytidyl-2-C-methyl D-erythritol From D-(+)-Arabitol.
Tetrahedron
; 68(43): 8937-8941, 2012 Oct 28.
Artigo
Inglês
| MEDLINE | ID: mdl-23049145
17.
Early postnatal alterations in follicular stress response and survival in a mouse model of Classic Galactosemia.
J Ovarian Res
; 15(1): 122, 2022 Nov 21.
Artigo
Inglês
| MEDLINE | ID: mdl-36414970
18.
Pathophysiology and management of classic galactosemic primary ovarian insufficiency.
Reprod Fertil
; 2(3): R67-R84, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35118398
19.
Fragment Screening Reveals Starting Points for Rational Design of Galactokinase 1 Inhibitors to Treat Classic Galactosemia.
ACS Chem Biol
; 16(4): 586-595, 2021 04 16.
Artigo
Inglês
| MEDLINE | ID: mdl-33724769
20.
Structure-Based Optimization of Small Molecule Human Galactokinase Inhibitors.
J Med Chem
; 64(18): 13551-13571, 2021 09 23.
Artigo
Inglês
| MEDLINE | ID: mdl-34491744