Detalhe da pesquisa
1.
Drug Repurposing in Rare Diseases: An Integrative Study of Drug Screening and Transcriptomic Analysis in Nephropathic Cystinosis.
Int J Mol Sci
; 22(23)2021 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34884638
2.
Detection of iron deficiency in children with Down syndrome.
Genet Med
; 22(2): 317-325, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31417190
3.
Intrinsic Bone Defects in Cystinotic Mice.
Am J Pathol
; 189(5): 1053-1064, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30794806
4.
Targeting oxidative stress improves disease outcomes in a rat model of acquired epilepsy.
Brain
; 142(7): e39, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31145451
5.
Glutathione transferase P silencing promotes neuronal differentiation of retinal R28 cells.
J Cell Physiol
; 234(9): 15885-15897, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30741416
6.
Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich's ataxia.
Hum Mol Genet
; 25(19): 4288-4301, 2016 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27516386
7.
Targeting oxidative stress improves disease outcomes in a rat model of acquired epilepsy.
Brain
; 140(7): 1885-1899, 2017 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575153
8.
Cystinosin-LKG rescues cystine accumulation and decreases apoptosis rate in cystinotic proximal tubular epithelial cells.
Pediatr Res
; 81(1-1): 113-119, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27656773
9.
Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic Targets for Friedreich's Ataxia.
Int J Mol Sci
; 18(10)2017 Oct 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29057804
10.
Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells.
Kidney Int
; 89(4): 862-73, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26994576
11.
Altered mTOR signalling in nephropathic cystinosis.
J Inherit Metab Dis
; 39(3): 457-464, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26909499
12.
High concentrations of H2O2 trigger hypertrophic cascade and phosphatase and tensin homologue (PTEN) glutathionylation in H9c2 cardiomyocytes.
Exp Mol Pathol
; 100(1): 199-206, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26772165
13.
Reverse-phase high-performance liquid chromatography for the simultaneous determination of sildenafil and N-desmethyl sildenafil in plasma of children.
Biomed Chromatogr
; 30(12): 2070-2073, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27215176
14.
Response to Zhang et al.
Genet Med
; 22(3): 662, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31712672
15.
The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans.
J Inherit Metab Dis
; 38(5): 969-79, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25585586
16.
Influence of dialysis techniques and alternate vitamin supplementation on homocysteine levels in patients with known MTHFR genotypes.
Clin Exp Nephrol
; 19(1): 140-5, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24652221
17.
Implications for chronic toxicity of benzo[a]pyrene in sea bream cultured hepatocytes: Cytotoxicity, inflammation, and cancerogenesis.
Environ Toxicol
; 30(9): 1045-62, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24610634
18.
Gender-related effects on urine L-cystine metastability.
Amino Acids
; 46(2): 415-27, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24327171
19.
Glutathione metabolism in cobalamin deficiency type C (cblC).
J Inherit Metab Dis
; 37(1): 125-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23568438
20.
Plasma levels of homocysteine and cysteine increased in pediatric NAFLD and strongly correlated with severity of liver damage.
Int J Mol Sci
; 15(11): 21202-14, 2014 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25407526