Detalhe da pesquisa
1.
Preclinical studies in Krabbe disease: A model for the investigation of novel combination therapies for lysosomal storage diseases.
Mol Ther
; 31(1): 7-23, 2023 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196048
2.
Cell-autonomous expression of the acid hydrolase galactocerebrosidase.
Proc Natl Acad Sci U S A
; 117(16): 9032-9041, 2020 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32253319
3.
Enhanced Efficacy and Increased Long-Term Toxicity of CNS-Directed, AAV-Based Combination Therapy for Krabbe Disease.
Mol Ther
; 29(2): 691-701, 2021 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33388420
4.
Waning efficacy in a long-term AAV-mediated gene therapy study in the murine model of Krabbe disease.
Mol Ther
; 29(5): 1883-1902, 2021 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33508430
5.
Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target.
Proc Natl Acad Sci U S A
; 116(40): 20097-20103, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31527255
6.
Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome.
Mol Genet Metab
; 133(2): 185-192, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33839004
7.
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
8.
A HILIC-MS/MS method for simultaneous quantification of the lysosomal disease markers galactosylsphingosine and glucosylsphingosine in mouse serum.
Biomed Chromatogr
; 32(7): e4235, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29516569
9.
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
J Med Genet
; 53(6): 403-18, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908836
10.
Mechanism-based combination treatment dramatically increases therapeutic efficacy in murine globoid cell leukodystrophy.
J Neurosci
; 35(16): 6495-505, 2015 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-25904800
11.
Treatment for Krabbe's disease: Finding the combination.
J Neurosci Res
; 94(11): 1126-37, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27638598
12.
Hematopoietic Stem cell transplantation and lentiviral vector-based gene therapy for Krabbe's disease: Present convictions and future prospects.
J Neurosci Res
; 94(11): 1152-68, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27638600
13.
Histochemical localization of palmitoyl protein thioesterase-1 activity.
Mol Genet Metab
; 117(2): 210-6, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26597320
14.
An anti-neuroinflammatory that targets dysregulated glia enhances the efficacy of CNS-directed gene therapy in murine infantile neuronal ceroid lipofuscinosis.
J Neurosci
; 34(39): 13077-82, 2014 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-25253854
15.
Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease).
Biochim Biophys Acta
; 1832(11): 1906-9, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23747979
16.
Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe?
Biochem Soc Trans
; 42(5): 1282-5, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25233404
17.
Mucopolysaccharidosis type VII: A powerful experimental system and therapeutic challenge.
Pediatr Endocrinol Rev
; 12 Suppl 1: 159-65, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25345098
18.
GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice.
bioRxiv
; 2024 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585903
19.
Psychosine, the cytotoxic sphingolipid that accumulates in globoid cell leukodystrophy, alters membrane architecture.
J Lipid Res
; 54(12): 3303-11, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24006512
20.
Combination therapies for lysosomal storage disease: is the whole greater than the sum of its parts?
Hum Mol Genet
; 20(R1): R54-60, 2011 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21421999