Detalhe da pesquisa
1.
A Comparative Biochemical and Pathological Evaluation of Brain Samples from Knock-In Murine Models of Gaucher Disease.
Int J Mol Sci
; 25(3)2024 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38339105
2.
Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients.
Mol Genet Metab
; 138(2): 107508, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36709532
3.
Simple nutrients bypass the requirement for HLH-30 in coupling lysosomal nutrient sensing to survival.
PLoS Biol
; 17(5): e3000245, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31086360
4.
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
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.
A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1.
BMC Biol
; 19(1): 218, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34592985
7.
4ß-Hydroxycholesterol is a prolipogenic factor that promotes SREBP1c expression and activity through the liver X receptor.
J Lipid Res
; 62: 100051, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33631213
8.
Natural history of Tay-Sachs disease in sheep.
Mol Genet Metab
; 134(1-2): 164-174, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34456134
9.
Cerebrospinal fluid and serum glycosphingolipid biomarkers in canine globoid cell leukodystrophy (Krabbe Disease).
Mol Cell Neurosci
; 102: 103451, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794880
10.
Alterations in plasma triglycerides and ceramides: links with cardiac function in humans with type 2 diabetes.
J Lipid Res
; 61(7): 1065-1074, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32393551
11.
A novel gene editing system to treat both Tay-Sachs and Sandhoff diseases.
Gene Ther
; 27(5): 226-236, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31896760
12.
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
Mol Genet Metab
; 131(4): 405-417, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33257258
13.
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
Mol Genet Metab
; 129(4): 292-302, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32033912
14.
N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease.
J Lipid Res
; 60(8): 1410-1424, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31201291
15.
Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B.
Mol Genet Metab
; 126(2): 139-150, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30528226
16.
Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.
Mol Genet Metab
; 126(2): 183-187, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30172462
17.
Pazopanib plus cetuximab in recurrent or metastatic head and neck squamous cell carcinoma: an open-label, phase 1b and expansion study.
Lancet Oncol
; 19(8): 1082-1093, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30001987
18.
Intrathecal 2-hydroxypropyl-ß-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.
Lancet
; 390(10104): 1758-1768, 2017 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28803710
19.
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
20.
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