Detalhe da pesquisa
1.
Control of CD1d-restricted antigen presentation and inflammation by sphingomyelin.
Nat Immunol
; 20(12): 1644-1655, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31636468
2.
Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.
Cell
; 165(6): 1467-1478, 2016 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27238017
3.
NPC1 plays a role in the trafficking of specific cargo to melanosomes.
J Biol Chem
; 299(8): 105024, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37423302
4.
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1.
J Inherit Metab Dis
; 47(2): 317-326, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38131230
5.
Overview of clinical, molecular, and therapeutic features of Niemann-Pick disease (types A, B, and C): Focus on therapeutic approaches.
Cell Biochem Funct
; 42(4): e4028, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38715125
6.
Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease.
Mol Genet Metab
; 139(1): 107563, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37086570
7.
SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Hereditas
; 160(1): 11, 2023 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36907956
8.
Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis.
Int J Mol Sci
; 24(16)2023 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628828
9.
Modulation of Dietary Choline Uptake in a Mouse Model of Acid Sphingomyelinase Deficiency.
Int J Mol Sci
; 24(11)2023 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37298714
10.
mRNA Treatment Rescues Niemann-Pick Disease Type C1 in Patient Fibroblasts.
Mol Pharm
; 19(11): 3987-3999, 2022 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36125338
11.
Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency.
BMC Gastroenterol
; 22(1): 227, 2022 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35534800
12.
Bidirectional Control between Cholesterol Shuttle and Purine Signal at the Central Nervous System.
Int J Mol Sci
; 23(15)2022 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35955821
13.
Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies.
Int J Mol Sci
; 23(18)2022 Sep 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36142486
14.
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
Hum Mutat
; 42(10): 1336-1350, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34273913
15.
In Silico Analysis of the Molecular-Level Impact of SMPD1 Variants on Niemann-Pick Disease Severity.
Int J Mol Sci
; 22(9)2021 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33925997
16.
Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy.
Mol Genet Metab
; 131(1-2): 116-123, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32616389
17.
Existence and distribution of Niemann-Pick type 2C (NPC2) in prawn reproductive tract and its putative role as a cholesterol modulator during sperm transit in the vas deferens.
Cell Tissue Res
; 382(2): 381-390, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32556727
18.
Homozygous pArg610del Mutation Unusually Associated With Severe Delay of Growth in 2 Acid Sphingomyelinase Deficiency-affected Sibs.
J Pediatr Hematol Oncol
; 42(6): e499-e502, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30870388
19.
Development of a Diagnostic Screening Strategy for Niemann-Pick Diseases Based on Simultaneous Liquid Chromatography-Tandem Mass Spectrometry Analyses of N-Palmitoyl-O-phosphocholine-serine and Sphingosylphosphorylcholine.
Biol Pharm Bull
; 43(9): 1398-1406, 2020 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32581190
20.
Feline Niemann-Pick Disease With a Novel Mutation of SMPD1 Gene.
Vet Pathol
; 57(4): 559-564, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32347185