Detalhe da pesquisa
1.
Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses.
Acta Neuropathol
; 147(1): 46, 2024 02 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411740
2.
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
3.
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
4.
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
5.
Sensitive quantification of α-glucans in mouse tissues, cell cultures, and human cerebrospinal fluid.
J Biol Chem
; 295(43): 14698-14709, 2020 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32817315
6.
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
7.
Circadian Stress Regimes Affect the Circadian Clock and Cause Jasmonic Acid-Dependent Cell Death in Cytokinin-Deficient Arabidopsis Plants.
Plant Cell
; 28(7): 1616-39, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27354555
8.
Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan.
Int J Mol Sci
; 18(8)2017 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28800070
9.
A novel protective function for cytokinin in the light stress response is mediated by the Arabidopsis histidine kinase2 and Arabidopsis histidine kinase3 receptors.
Plant Physiol
; 164(3): 1470-83, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24424319
10.
Targeting Gys1 with AAV-SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models.
Neurotherapeutics
; 18(2): 1414-1425, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33830476
11.
MYORG is associated with recessive primary familial brain calcification.
Ann Clin Transl Neurol
; 6(1): 106-113, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30656188
12.
Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases.
Cell Rep
; 27(5): 1334-1344.e6, 2019 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31042462
13.
Lafora disease - from pathogenesis to treatment strategies.
Nat Rev Neurol
; 14(10): 606-617, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30143794
14.
Novel Stress in Plants by Altering the Photoperiod.
Trends Plant Sci
; 22(11): 913-916, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28970000