Detalhe da pesquisa
1.
AAV-mediated gene therapy for sialidosis.
Mol Ther
; 2024 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38796704
2.
Distinct functions of dimeric and monomeric scaffold protein Alix in regulating F-actin assembly and loading of exosomal cargo.
J Biol Chem
; 298(10): 102425, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36030822
3.
GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis.
Mol Cell
; 36(3): 500-11, 2009 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-19917257
4.
Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosis.
Biochim Biophys Acta
; 1832(10): 1784-92, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23770387
5.
Neuraminidase 1 regulates the cellular state of microglia by modulating the sialylation of Trem2.
bioRxiv
; 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38826426
6.
Altered GM1 catabolism affects NMDAR-mediated Ca2+ signaling at ER-PM junctions and increases synaptic spine formation in a GM1-gangliosidosis model.
Cell Rep
; 43(5): 114117, 2024 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38630590
7.
Preclinical dose-finding study with a liver-tropic, recombinant AAV-2/8 vector in the mouse model of galactosialidosis.
Mol Ther
; 20(2): 267-74, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22008912
8.
AAV-mediated gene therapy for Sialidosis.
bioRxiv
; 2023 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38014061
9.
Mitochondrial proteostasis mediated by CRL5 Ozz and Alix maintains skeletal muscle function.
bioRxiv
; 2023 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37503076
10.
Altered GM1 catabolism affects NMDAR-mediated Ca 2+ signaling at ER-PM junctions and increases synaptic spine formation.
bioRxiv
; 2023 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37503265
11.
Preclinical Enzyme Replacement Therapy with a Recombinant ß-Galactosidase-Lectin Fusion for CNS Delivery and Treatment of GM1-Gangliosidosis.
Cells
; 11(16)2022 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36010656
12.
Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue.
Biochim Biophys Acta
; 1802(7-8): 659-72, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20388541
13.
Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept.
Mol Ther Methods Clin Dev
; 20: 191-203, 2021 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33426146
14.
AAV-mediated gene therapy for galactosialidosis: A long-term safety and efficacy study.
Mol Ther Methods Clin Dev
; 23: 644-658, 2021 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34901309
15.
Excessive exosome release is the pathogenic pathway linking a lysosomal deficiency to generalized fibrosis.
Sci Adv
; 5(7): eaav3270, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31328155
16.
Alix-mediated assembly of the actomyosin-tight junction polarity complex preserves epithelial polarity and epithelial barrier.
Nat Commun
; 7: 11876, 2016 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27336173
17.
Regulated lysosomal exocytosis mediates cancer progression.
Sci Adv
; 1(11): e1500603, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26824057
18.
Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-ß secretion via deregulated lysosomal exocytosis.
Nat Commun
; 4: 2734, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24225533