Detalhe da pesquisa
1.
Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability.
Cell
; 186(22): 4898-4919.e25, 2023 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37827155
2.
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.
Cell
; 137(2): 235-46, 2009 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-19379691
3.
Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.
Brain
; 145(7): 2361-2377, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35084461
4.
An EHBP-1-SID-3-DYN-1 axis promotes membranous tubule fission during endocytic recycling.
PLoS Genet
; 16(5): e1008763, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32384077
5.
An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice.
J Biol Chem
; 296: 100150, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33277363
6.
Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease.
Brain
; 144(10): 2985-2993, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33993268
7.
Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease.
J Neurochem
; 157(6): 1897-1910, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32892347
8.
Transmembrane peptide 4 and 5 of APJ are essential for its heterodimerization with OX1R.
Biochem Biophys Res Commun
; 521(2): 408-413, 2020 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31668922
9.
RAB-10 Promotes EHBP-1 Bridging of Filamentous Actin and Tubular Recycling Endosomes.
PLoS Genet
; 12(6): e1006093, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27272733
10.
A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease.
Biochem J
; 474(20): 3403-3420, 2017 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28827282
11.
2D Lead Dihalides for High-Performance Ultraviolet Photodetectors and their Detection Mechanism Investigation.
Small
; 13(47)2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29106073
12.
Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.
Hum Mutat
; 37(9): 926-32, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27233232
13.
A pre-formulation study of a polymeric solid dispersion of paclitaxel prepared using a quasi-emulsion solvent diffusion method to improve the oral bioavailability in rats.
Drug Dev Ind Pharm
; 42(3): 353-63, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26161937
14.
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.
Mol Genet Genomics
; 290(6): 2163-71, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26003046
15.
PTG protein depletion rescues malin-deficient Lafora disease in mouse.
Ann Neurol
; 75(3): 442-6, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24419970
16.
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.
Acta Neuropathol
; 140(2): 231-235, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451610
17.
Deficiency of a glycogen synthase-associated protein, Epm2aip1, causes decreased glycogen synthesis and hepatic insulin resistance.
J Biol Chem
; 288(48): 34627-37, 2013 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-24142699
18.
PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease.
PLoS Genet
; 7(4): e1002037, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21552327
19.
A Smart Window with Passive Radiative Cooling and Switchable Near-Infrared Light Transmittance via Molecular Engineering.
ACS Appl Mater Interfaces
; 16(19): 25343-25352, 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38711173
20.
Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease.
J Biol Chem
; 287(30): 25650-9, 2012 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22669944