Search details
1.
AAV-mediated gene therapy for sialidosis.
Mol Ther
; 2024 May 25.
Article
in English
| 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.
Article
in English
| MEDLINE | ID: mdl-36030822
3.
Intermittent enzyme replacement therapy with recombinant human ß-galactosidase prevents neuraminidase 1 deficiency
J Biol Chem
; 295(39): 13556-13569, 2020 09 25.
Article
in English
| MEDLINE | ID: mdl-32727849
4.
Intracerebroventricular enzyme replacement therapy with ß-galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice.
J Biol Chem
; 295(39): 13532-13555, 2020 09 25.
Article
in English
| MEDLINE | ID: mdl-31481471
5.
Skeletal muscle cells derived from mouse skin cultures.
Biochem Biophys Res Commun
; 528(2): 398-403, 2020 07 23.
Article
in English
| MEDLINE | ID: mdl-31926596
6.
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.
Mol Genet Metab
; 129(2): 47-58, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31711734
7.
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.
Article
in English
| MEDLINE | ID: mdl-19917257
8.
Correction: Intermittent enzyme replacement therapy prevents Neu1 deficiency.
J Biol Chem
; 295(46): 15794, 2020 Nov 13.
Article
in English
| MEDLINE | ID: mdl-33188082
9.
Neuraminidase-1 mediates skeletal muscle regeneration.
Biochim Biophys Acta
; 1852(9): 1755-64, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26001931
10.
Sialylation of prion protein controls the rate of prion amplification, the cross-species barrier, the ratio of PrPSc glycoform and prion infectivity.
PLoS Pathog
; 10(9): e1004366, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-25211026
11.
The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy.
Pediatr Endocrinol Rev
; 13 Suppl 1: 663-73, 2016 Jun.
Article
in English
| MEDLINE | ID: mdl-27491214
12.
Bis(monoacylglycero)phosphate: a secondary storage lipid in the gangliosidoses.
J Lipid Res
; 56(5): 1006-13, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25795792
13.
Lysosomal multienzyme complex: pros and cons of working together.
Cell Mol Life Sci
; 71(11): 2017-32, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24337808
14.
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.
Article
in English
| MEDLINE | ID: mdl-23770387
15.
Neuraminidase 1 regulates the cellular state of microglia by modulating the sialylation of Trem2.
bioRxiv
; 2024 May 20.
Article
in English
| MEDLINE | ID: mdl-38826426
16.
Notch receptor-ligand binding facilitates extracellular vesicle-mediated neuron-to-neuron communication.
Cell Rep
; 43(2): 113680, 2024 Feb 27.
Article
in English
| MEDLINE | ID: mdl-38241148
17.
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.
Article
in English
| MEDLINE | ID: mdl-38630590
18.
Alix protein is substrate of Ozz-E3 ligase and modulates actin remodeling in skeletal muscle.
J Biol Chem
; 287(15): 12159-71, 2012 Apr 06.
Article
in English
| MEDLINE | ID: mdl-22334701
19.
Identification and characterization of PlAlix, the Alix homologue from the Mediterranean sea urchin Paracentrotus lividus.
Dev Growth Differ
; 55(2): 237-46, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-23302023
20.
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.
Article
in English
| MEDLINE | ID: mdl-22008912