Detalhe da pesquisa
1.
Molecular mechanism underlying impaired hepatic autophagy in glycogen storage disease type Ib.
Hum Mol Genet
; 32(2): 262-275, 2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35961004
2.
CRISPR/Cas9-based double-strand oligonucleotide insertion strategy corrects metabolic abnormalities in murine glycogen storage disease type-Ia.
J Inherit Metab Dis
; 46(6): 1147-1158, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467014
3.
The signaling pathways implicated in impairment of hepatic autophagy in glycogen storage disease type Ia.
Hum Mol Genet
; 29(5): 834-844, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31961433
4.
Correction of metabolic abnormalities in a mouse model of glycogen storage disease type Ia by CRISPR/Cas9-based gene editing.
Mol Ther
; 29(4): 1602-1610, 2021 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33359667
5.
Activation of tumor-promoting pathways implicated in hepatocellular adenoma/carcinoma, a long-term complication of glycogen storage disease type Ia.
Biochem Biophys Res Commun
; 522(1): 1-7, 2020 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31735334
6.
Gene therapy using a novel G6PC-S298C variant enhances the long-term efficacy for treating glycogen storage disease type Ia.
Biochem Biophys Res Commun
; 527(3): 824-830, 2020 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32430177
7.
Downregulation of SIRT1 signaling underlies hepatic autophagy impairment in glycogen storage disease type Ia.
PLoS Genet
; 13(5): e1006819, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28558013
8.
Downregulation of pathways implicated in liver inflammation and tumorigenesis of glycogen storage disease type Ia mice receiving gene therapy.
Hum Mol Genet
; 26(10): 1890-1899, 2017 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334808
9.
Liver-directed gene therapy for murine glycogen storage disease type Ib.
Hum Mol Genet
; 26(22): 4395-4405, 2017 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973635
10.
An evolutionary approach to optimizing glucose-6-phosphatase-α enzymatic activity for gene therapy of glycogen storage disease type Ia.
J Inherit Metab Dis
; 42(3): 470-479, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30714174
11.
Gene therapy prevents hepatic tumor initiation in murine glycogen storage disease type Ia at the tumor-developing stage.
J Inherit Metab Dis
; 42(3): 459-469, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30637773
12.
Hepatic glucose-6-phosphatase-α deficiency leads to metabolic reprogramming in glycogen storage disease type Ia.
Biochem Biophys Res Commun
; 498(4): 925-931, 2018 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29545180
13.
Molecular biology and gene therapy for glycogen storage disease type Ib.
J Inherit Metab Dis
; 41(6): 1007-1014, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29663270
14.
Sirtuin signaling controls mitochondrial function in glycogen storage disease type Ia.
J Inherit Metab Dis
; 2018 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29740774
15.
Mice expressing reduced levels of hepatic glucose-6-phosphatase-α activity do not develop age-related insulin resistance or obesity.
Hum Mol Genet
; 24(18): 5115-25, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26089201
16.
Glycogen storage disease type Ia mice with less than 2% of normal hepatic glucose-6-phosphatase-α activity restored are at risk of developing hepatic tumors.
Mol Genet Metab
; 120(3): 229-234, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28096054
17.
Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib.
Blood
; 123(18): 2843-53, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24565827
18.
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes.
J Inherit Metab Dis
; 38(3): 511-9, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25288127
19.
Glucose-6-phosphatase-ß, implicated in a congenital neutropenia syndrome, is essential for macrophage energy homeostasis and functionality.
Blood
; 119(17): 4047-55, 2012 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22246029
20.
The SLC37 family of sugar-phosphate/phosphate exchangers.
Curr Top Membr
; 73: 357-82, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24745989