Detalhe da pesquisa
1.
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.
Genet Med
; 26(7): 101125, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522068
2.
Loss of Activity-Induced Mitochondrial ATP Production Underlies the Synaptic Defects in a Drosophila Model of ALS.
J Neurosci
; 42(42): 8019-8037, 2022 10 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36261266
3.
Trifluoromethylselenolation and N-acylation of indoles with [Me4N][SeCF3].
Org Biomol Chem
; 19(24): 5368-5376, 2021 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34047751
4.
Oxidative trifluoromethylselenolation of 1,3-dicarbonyls with [Me4N][SeCF3].
Org Biomol Chem
; 18(9): 1769-1779, 2020 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32073107
5.
Correction: the retromer complex is required for rhodopsin recycling and its loss leads to photoreceptor degeneration.
PLoS Biol
; 13(5): e1002170, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26020534
6.
Large-scale identification of chemically induced mutations in Drosophila melanogaster.
Genome Res
; 24(10): 1707-18, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25258387
7.
The retromer complex is required for rhodopsin recycling and its loss leads to photoreceptor degeneration.
PLoS Biol
; 12(4): e1001847, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24781186
8.
A Genetic Screen for Genes That Impact Peroxisomes in Drosophila Identifies Candidate Genes for Human Disease.
G3 (Bethesda)
; 10(1): 69-77, 2020 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31767637
9.
Organic Photoredox-Catalyzed Decarboxylative Trifluoromethylselenolation of Aliphatic Carboxylic Acids with [Me4N][SeCF3].
Org Lett
; 21(24): 10013-10017, 2019 12 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31808702
10.
VAMP associated proteins are required for autophagic and lysosomal degradation by promoting a PtdIns4P-mediated endosomal pathway.
Autophagy
; 15(7): 1214-1233, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30741620
11.
Phospholipase PLA2G6, a Parkinsonism-Associated Gene, Affects Vps26 and Vps35, Retromer Function, and Ceramide Levels, Similar to α-Synuclein Gain.
Cell Metab
; 28(4): 605-618.e6, 2018 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909971
12.
Resolution and evaluation of 3-chlorophenyl-3-hydroxypropionylhydroxamic acid as antivirulence agent with excellent eradication efficacy in Helicobacter pylori infected mice.
Eur J Pharm Sci
; 121: 293-300, 2018 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-29860117
13.
Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.
Dev Cell
; 45(2): 226-244.e8, 2018 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29689197
14.
Loss of Frataxin activates the iron/sphingolipid/PDK1/Mef2 pathway in mammals.
Elife
; 52016 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27901468
15.
Genetic screen for regulators of lymph gland homeostasis and hemocyte maturation in Drosophila.
G3 (Bethesda)
; 2(3): 393-405, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22413093