Detalhe da pesquisa
1.
The role of Niemann-Pick type C2 in zebrafish embryonic development.
Development
; 148(7)2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33722902
2.
Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.
Int J Mol Sci
; 25(8)2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38673803
3.
A differential proteomics study of cerebrospinal fluid from individuals with Niemann-Pick disease, Type C1.
Proteomics
; 23(11): e2200378, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36638187
4.
Cerebrospinal Fluid Protein Biomarker Discovery in CLN3.
J Proteome Res
; 22(7): 2493-2508, 2023 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37338096
5.
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
6.
Complex N-Linked Glycosylation: A Potential Modifier of Niemann-Pick Disease, Type C1 Pathology.
Int J Mol Sci
; 23(9)2022 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563467
7.
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model.
Genet Med
; 23(10): 1864-1872, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34050321
8.
Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1.
Mol Genet Metab
; 134(4): 330-336, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34802899
9.
Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention.
Hum Mol Genet
; 27(12): 2076-2089, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29617956
10.
Toll-like receptor mediated lysozyme expression in Niemann-pick disease, type C1.
Mol Genet Metab
; 131(3): 364-366, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33129690
11.
Acute Statin Administration Reduces Levels of Steroid Hormone Precursors.
Horm Metab Res
; 52(10): 742-746, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040961
12.
Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann-Pick Disease, Type C1.
Int J Mol Sci
; 21(7)2020 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32244519
13.
Single Cell Transcriptome Analysis of Niemann-Pick Disease, Type C1 Cerebella.
Int J Mol Sci
; 21(15)2020 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32731618
14.
Unique molecular signature in mucolipidosis type IV microglia.
J Neuroinflammation
; 16(1): 276, 2019 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883529
15.
Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1.
Int J Mol Sci
; 21(1)2019 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31906248
16.
FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts.
FASEB J
; 31(4): 1719-1730, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28082351
17.
Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IV.
EMBO Rep
; 17(2): 266-78, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26682800
18.
Gastrointestinal Tract Pathology in a BALB/c Niemann-Pick Disease Type C1 Null Mouse Model.
Dig Dis Sci
; 63(4): 870-880, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29357083
19.
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
Genet Med
; 19(3): 297-305, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27513191
20.
Vitamin D levels in Smith-Lemli-Opitz syndrome.
Am J Med Genet A
; 173(10): 2577-2583, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28796426