Detalhe da pesquisa
1.
NPC1 regulates the distribution of phosphatidylinositol 4-kinases at Golgi and lysosomal membranes.
EMBO J
; 40(13): e105990, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34019311
2.
Selective Aster inhibitors distinguish vesicular and nonvesicular sterol transport mechanisms.
Proc Natl Acad Sci U S A
; 118(2)2021 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33376205
3.
IP3R-driven increases in mitochondrial Ca2+ promote neuronal death in NPC disease.
Proc Natl Acad Sci U S A
; 118(40)2021 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34580197
4.
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
J Inherit Metab Dis
; 46(2): 326-334, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36719165
5.
Fatty acid synthesis configures the plasma membrane for inflammation in diabetes.
Nature
; 539(7628): 294-298, 2016 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27806377
6.
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
7.
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
8.
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
9.
HSP90 inhibitors reduce cholesterol storage in Niemann-Pick type C1 mutant fibroblasts.
J Lipid Res
; 62: 100114, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34481829
10.
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
11.
Monitoring the itinerary of lysosomal cholesterol in Niemann-Pick Type C1-deficient cells after cyclodextrin treatment.
J Lipid Res
; 61(3): 403-412, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31988149
12.
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
13.
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
14.
A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson's disease.
Neurobiol Dis
; 134: 104647, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31669751
15.
High-content screen for modifiers of Niemann-Pick type C disease in patient cells.
Hum Mol Genet
; 27(12): 2101-2112, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659804
16.
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
17.
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
18.
Synthesis and characterization of diazirine alkyne probes for the study of intracellular cholesterol trafficking.
J Lipid Res
; 60(3): 707-716, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30617147
19.
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
20.
Long-range function of secreted small nucleolar RNAs that direct 2'-O-methylation.
J Biol Chem
; 293(34): 13284-13296, 2018 08 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29980600