Detalhe da pesquisa
1.
Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism.
J Inherit Metab Dis
; 46(5): 931-942, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37309295
2.
The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis.
J Inherit Metab Dis
; 44(6): 1419-1433, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34564857
3.
Deletion of 2-aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1.
J Inherit Metab Dis
; 43(6): 1154-1164, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32567100
4.
Potentiators exert distinct effects on human, murine, and Xenopus CFTR.
Am J Physiol Lung Cell Mol Physiol
; 311(2): L192-207, 2016 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27288484
5.
Junctional abnormalities in human airway epithelial cells expressing F508del CFTR.
Am J Physiol Lung Cell Mol Physiol
; 309(5): L475-87, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26115671
6.
Plasma Lysosphingolipid Biomarker Measurement by Liquid Chromatography Tandem Mass Spectrometry.
Methods Mol Biol
; 2546: 271-284, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36127597
7.
A mitochondrial long-chain fatty acid oxidation defect leads to transfer RNA uncharging and activation of the integrated stress response in the mouse heart.
Cardiovasc Res
; 118(16): 3198-3210, 2022 12 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35388887
8.
Inhibition and Crystal Structure of the Human DHTKD1-Thiamin Diphosphate Complex.
ACS Chem Biol
; 15(8): 2041-2047, 2020 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32633484
9.
VX-770-mediated potentiation of numerous human CFTR disease mutants is influenced by phosphorylation level.
Sci Rep
; 9(1): 13460, 2019 09 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31530897
10.
An Ancient CFTR Ortholog Informs Molecular Evolution in ABC Transporters.
Dev Cell
; 51(4): 421-430.e3, 2019 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31679858
11.
Inflammation and ER stress downregulate BDH2 expression and dysregulate intracellular iron in macrophages.
J Immunol Res
; 2014: 140728, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25762501
12.
CRIP1a switches cannabinoid receptor agonist/antagonist-mediated protection from glutamate excitotoxicity.
Neurosci Lett
; 503(3): 224-8, 2011 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21896317