Detalhe da pesquisa
1.
Comparison of different promoters to improve AAV vector-mediated gene therapy for neuronopathic Gaucher disease.
Hum Mol Genet
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38757200
2.
Tralesinidase Alfa Enzyme Replacement Therapy Prevents Disease Manifestations in a Canine Model of Mucopolysaccharidosis Type IIIB.
J Pharmacol Exp Ther
; 382(3): 277-286, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35717448
3.
Synergistic effects of treating the spinal cord and brain in CLN1 disease.
Proc Natl Acad Sci U S A
; 114(29): E5920-E5929, 2017 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28673981
4.
Towards a new understanding of NCL pathogenesis.
Biochim Biophys Acta
; 1852(10 Pt B): 2256-61, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26026924
5.
Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis.
Mol Genet Metab
; 116(1-2): 98-105, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25982063
6.
Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis.
Brain
; 136(Pt 4): 1083-101, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23485853
7.
GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice.
bioRxiv
; 2024 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585903
8.
Neuronal deletion of the circadian clock gene Bmal1 induces cell-autonomous dopaminergic neurodegeneration.
JCI Insight
; 9(2)2024 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38032732
9.
Progress toward Fulfilling the Potential of Immunomodulation in Childhood Neurodegeneration?
Mol Ther
; 25(8): 1743-1745, 2017 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28625570
10.
Gene therapy ameliorates spontaneous seizures associated with cortical neuron loss in a Cln2R207X mouse model.
J Clin Invest
; 133(12)2023 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37104037
11.
Top-down and bottom-up propagation of disease in the neuronal ceroid lipofuscinoses.
Front Neurol
; 13: 1061363, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36438942
12.
Glial Dysfunction and Its Contribution to the Pathogenesis of the Neuronal Ceroid Lipofuscinoses.
Front Neurol
; 13: 886567, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35444603
13.
Effects of chronic cannabidiol in a mouse model of naturally occurring neuroinflammation, neurodegeneration, and spontaneous seizures.
Sci Rep
; 12(1): 11286, 2022 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35789177
14.
Cross-species efficacy of enzyme replacement therapy for CLN1 disease in mice and sheep.
J Clin Invest
; 132(20)2022 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36040802
15.
Substrate reduction therapy for Krabbe disease and metachromatic leukodystrophy using a novel ceramide galactosyltransferase inhibitor.
Sci Rep
; 11(1): 14486, 2021 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34262084
16.
Intracranial delivery of AAV9 gene therapy partially prevents retinal degeneration and visual deficits in CLN6-Batten disease mice.
Mol Ther Methods Clin Dev
; 20: 497-507, 2021 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33665223
17.
Pathomechanisms in the neuronal ceroid lipofuscinoses.
Biochim Biophys Acta Mol Basis Dis
; 1866(9): 165570, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31678162
18.
Comparative proteomic profiling reveals mechanisms for early spinal cord vulnerability in CLN1 disease.
Sci Rep
; 10(1): 15157, 2020 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32938982
19.
mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases.
Nat Commun
; 8: 14338, 2017 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28165011
20.
Corrigendum: mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases.
Nat Commun
; 8: 15793, 2017 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28607479