Detalhe da pesquisa
1.
Role of trafficking protein particle complex 2 in medaka development.
Traffic
; 25(1): e12924, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37963679
2.
Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders.
EMBO J
; 41(23): e112402, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36321514
3.
Increased expression or activation of TRPML1 reduces hepatic storage of toxic Z alpha-1 antitrypsin.
Mol Ther
; 31(9): 2651-2661, 2023 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37394797
4.
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.
J Inherit Metab Dis
; 46(2): 335-347, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36433920
5.
Fluoxetine ameliorates mucopolysaccharidosis type IIIA.
Mol Ther
; 30(4): 1432-1450, 2022 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35121108
6.
The Amyloid Inhibitor CLR01 Relieves Autophagy and Ameliorates Neuropathology in a Severe Lysosomal Storage Disease.
Mol Ther
; 28(4): 1167-1176, 2020 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32087148
7.
The Amyloid Inhibitor CLR01 Relieves Autophagy and Ameliorates Neuropathology in a Severe Lysosomal Storage Disease.
Mol Ther
; 30(11): 3499, 2022 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36261045
8.
A Comprehensive Map of CNS Transduction by Eight Recombinant Adeno-associated Virus Serotypes Upon Cerebrospinal Fluid Administration in Pigs.
Mol Ther
; 24(2): 276-286, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26639405
9.
Brain Targeting in MPS-IIIA.
Pediatr Endocrinol Rev
; 13 Suppl 1: 630-8, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27491210
10.
Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders.
EMBO J
; 29(21): 3607-20, 2010 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-20871593
11.
TFEB and TFE3 drive kidney cystogenesis and tumorigenesis.
EMBO Mol Med
; 15(5): e16877, 2023 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36987696
12.
Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder.
Mol Ther
; 19(5): 860-9, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21326216
13.
Retinal Degeneration in MPS-IIIA Mouse Model.
Front Cell Dev Biol
; 8: 132, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32195255
14.
Effects of non-euphoric plant cannabinoids on muscle quality and performance of dystrophic mdx mice.
Br J Pharmacol
; 176(10): 1568-1584, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30074247
15.
Enhancing the Therapeutic Potential of Sulfamidase for the Treatment of Mucopolysaccharidosis IIIA.
Mol Ther Methods Clin Dev
; 15: 333-342, 2019 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31788497
16.
Gene therapy for mucopolysaccharidoses: in vivo and ex vivo approaches.
Ital J Pediatr
; 44(Suppl 2): 130, 2018 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30442177
17.
Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases.
EMBO Mol Med
; 9(1): 112-132, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27881461
18.
Transdermal spinal catheter placement in piglets: Description and validation of the technique.
J Neurosci Methods
; 255: 17-21, 2015 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-26238729
19.
A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA.
EMBO Mol Med
; 5(5): 675-90, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23568409
20.
Disease rescue and increased lifespan in a model of cardiomyopathy and muscular dystrophy by combined AAV treatments.
PLoS One
; 4(3): e5051, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19333401