Detalhe da pesquisa
1.
Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients.
Mol Genet Metab
; 138(2): 107508, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36709532
2.
Glycosphingolipid metabolism and its role in ageing and Parkinson's disease.
Glycoconj J
; 39(1): 39-53, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34757540
3.
AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease.
Hum Mol Genet
; 27(17): 3079-3098, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29878115
4.
Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis.
Int J Mol Sci
; 19(2)2018 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29470438
5.
Amyotrophic lateral sclerosis and denervation alter sphingolipids and up-regulate glucosylceramide synthase.
Hum Mol Genet
; 24(25): 7390-405, 2015 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-26483191
6.
AdipoQ-a simple, open-source software to quantify adipocyte morphology and function in tissues and in vitro.
Mol Biol Cell
; 33(12): br22, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947507
7.
Sphingolipids controlling ciliary and microvillar function.
FEBS Lett
; 594(22): 3652-3667, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32415987
8.
Correction to: Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson's disease.
Mol Neurodegener
; 15(1): 6, 2020 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31937358
9.
Upregulating ß-hexosaminidase activity in rodents prevents α-synuclein lipid associations and protects dopaminergic neurons from α-synuclein-mediated neurotoxicity.
Acta Neuropathol Commun
; 8(1): 127, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32762772
10.
Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1.
Dis Model Mech
; 13(3)2020 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31996359
11.
Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson's disease.
Mol Neurodegener
; 14(1): 40, 2019 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31703585
12.
Glycosphingolipid levels and glucocerebrosidase activity are altered in normal aging of the mouse brain.
Neurobiol Aging
; 67: 189-200, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29735433
13.
Fetal gene therapy for neurodegenerative disease of infants.
Nat Med
; 24(9): 1317-1323, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30013199
14.
Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C.
Wellcome Open Res
; 2: 76, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29062912
15.
N-Butyl-l-deoxynojirimycin (l-NBDNJ): Synthesis of an Allosteric Enhancer of α-Glucosidase Activity for the Treatment of Pompe Disease.
J Med Chem
; 60(23): 9462-9469, 2017 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29112434
16.
Inhibition of ß-Glucocerebrosidase Activity Preserves Motor Unit Integrity in a Mouse Model of Amyotrophic Lateral Sclerosis.
Sci Rep
; 7(1): 5235, 2017 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28701774