| 1 |
34886684 | Wnt5a Promotes Lysosomal Cholesterol Egress and Protects Against Atherosclerosis. | 2022 Jan 21 |
4 |
| 2 |
35086560 | Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations. | 2022 Jan 27 |
1 |
| 3 |
35159316 | Impact of Organelle Transport Deficits on Mitophagy and Autophagy in Niemann-Pick Disease Type C. | 2022 Feb 1 |
1 |
| 4 |
35370195 | [Inclusion Solves Insolubility -Translational Research Cycle from Bedside to Bench and Bench to Bedside for Drug Development Targeting Niemann-Pick Disease Type C]. | 2022 |
2 |
| 5 |
32880929 | Molecular dynamics study with mutation shows that N-terminal domain structural re-orientation in Niemann-Pick type C1 is required for proper alignment of cholesterol transport. | 2021 Mar |
7 |
| 6 |
33191681 | Cat-NPC2, a Newly Identified Allergen, With High Cross-Reactivity to Can f 7. | 2021 Jan |
1 |
| 7 |
33422548 | Niemann Pick C2 protein enables cholesterol transfer from endo-lysosomes to the plasma membrane for efflux by shedding of extracellular vesicles. | 2021 Mar |
3 |
| 8 |
33445799 | Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1. | 2021 Jan 12 |
1 |
| 9 |
33903617 | Quantitative imaging of membrane contact sites for sterol transfer between endo-lysosomes and mitochondria in living cells. | 2021 Apr 26 |
2 |
| 10 |
33924575 | Pathophysiological In Vitro Profile of Neuronal Differentiated Cells Derived from Niemann-Pick Disease Type C2 Patient-Specific iPSCs Carrying the NPC2 Mutations c.58G>T/c.140G>T. | 2021 Apr 13 |
4 |
| 11 |
34113546 | A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1. | 2021 Sep |
1 |
| 12 |
34138521 | Hepatocellular carcinoma as a complication of Niemann-Pick disease type C1. | 2021 Oct |
1 |
| 13 |
34377675 | A neuropathological cell model derived from Niemann-Pick disease type C patient-specific iPSCs shows disruption of the p62/SQSTM1-KEAP1-NRF2 Axis and impaired formation of neuronal networks. | 2021 Sep |
1 |
| 14 |
34445279 | Secretory NPC2 Protein-Mediated Free Cholesterol Levels Were Correlated with the Sorafenib Response in Hepatocellular Carcinoma. | 2021 Aug 9 |
4 |
| 15 |
34592985 | A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1. | 2021 Oct 1 |
2 |
| 16 |
34810067 | Comprehensive-targeted lipidomic analysis in Niemann-Pick C disease. | 2021 Dec |
1 |
| 17 |
31521631 | Binding and intracellular transport of 25-hydroxycholesterol by Niemann-Pick C2 protein. | 2020 Feb 1 |
4 |
| 18 |
31711697 | Relative content of Niemann-Pick C2 protein (NPC2) in seminal plasma, but not that of spermadhesin AQN-1, is related to boar sperm cryotolerance. | 2020 Mar 15 |
1 |
| 19 |
32060698 | New variants in Spanish Niemann-Pick type c disease patients. | 2020 Mar |
1 |
| 20 |
32114296 | An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene. | 2020 Apr |
3 |
| 21 |
32387451 | Pre-mRNA splicing defects and RNA binding protein involvement in Niemann Pick type C disease. | 2020 Jul 20 |
2 |
| 22 |
32413315 | Cholesterol Handling in Lysosomes and Beyond. | 2020 Jun |
1 |
| 23 |
32457374 | 2-Hydroxypropyl-gamma-cyclodextrin overcomes NPC1 deficiency by enhancing lysosome-ER association and autophagy. | 2020 May 26 |
1 |
| 24 |
32544384 | Structural Basis of Low-pH-Dependent Lysosomal Cholesterol Egress by NPC1 and NPC2. | 2020 Jul 9 |
4 |
| 25 |
32898135 | A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS. | 2020 |
1 |
| 26 |
33021976 | Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain. | 2020 Oct |
1 |
| 27 |
33257258 | Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1. | 2020 Dec |
1 |
| 28 |
33360098 | Generation of an iPSC line (AKOSi004-A) from fibroblasts of a female adult NPC1 patient, carrying the compound heterozygous mutation p.Val1023Serfs*15/p.Gly992Arg and of an iPSC line (AKOSi005-A) from a female adult control individual. | 2020 Dec 15 |
1 |
| 29 |
30710017 | NPC intracellular cholesterol transporter 1 (NPC1)-mediated cholesterol export from lysosomes. | 2019 Feb 1 |
1 |
| 30 |
30790261 | Purification and Characterization of Human Niemann-Pick C1 Protein. | 2019 |
3 |
| 31 |
30942586 | Computational Tools Unravel Putative Sterol Binding Sites in the Lysosomal NPC1 Protein. | 2019 May 28 |
1 |
| 32 |
31098815 | Insights into the Molecular Mechanisms of Cholesterol Binding to the NPC1 and NPC2 Proteins. | 2019 |
4 |
| 33 |
31159921 | Sterol transfer by atypical cholesterol-binding NPC2 proteins in coral-algal symbiosis. | 2019 Jun 4 |
1 |
| 34 |
31535581 | Drugs used in the treatment of bipolar disorder and their effects on cholesterol biosynthesis - A possible therapeutic mechanism. | 2019 Dec |
1 |
| 35 |
31580258 | Intracellular cholesterol trafficking is dependent upon NPC2 interaction with lysobisphosphatidic acid. | 2019 Oct 3 |
4 |
| 36 |
31843136 | The characteristics and biological significance of NPC2: Mutation and disease. | 2019 Oct - Dec |
2 |
| 37 |
29483961 | The prognostic value of Niemann-Pick C1-like protein 1 and Niemann-Pick disease type C2 in hepatocellular carcinoma. | 2018 |
2 |
| 38 |
29580834 | Niemann-Pick C2 protein regulates sterol transport between plasma membrane and late endosomes in human fibroblasts. | 2018 Jul |
1 |
| 39 |
29874879 | Niemann-Pick Type C2 Protein Regulates Free Cholesterol Accumulation and Influences Hepatic Stellate Cell Proliferation and Mitochondrial Respiration Function. | 2018 Jun 5 |
7 |
| 40 |
30066180 | Pulmonary involvement in Niemann-Pick C type 1. | 2018 Nov |
1 |
| 41 |
30181526 | Simulations of NPC1(NTD):NPC2 Protein Complex Reveal Cholesterol Transfer Pathways. | 2018 Sep 4 |
5 |
| 42 |
30282967 | Hydroxypropyl-beta and -gamma cyclodextrins rescue cholesterol accumulation in Niemann-Pick C1 mutant cell via lysosome-associated membrane protein 1. | 2018 Oct 3 |
1 |
| 43 |
27940359 | The new obesity-associated protein, neuronal growth regulator 1 (NEGR1), is implicated in Niemann-Pick disease Type C (NPC2)-mediated cholesterol trafficking. | 2017 Jan 22 |
2 |
| 44 |
28082351 | FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts. | 2017 Apr |
1 |
| 45 |
28191915 | Routes and mechanisms of post-endosomal cholesterol trafficking: A story that never ends. | 2017 Apr |
1 |
| 46 |
28205170 | Transport Assays for Sterol-Binding Proteins: Stopped-Flow Fluorescence Methods for Investigating Intracellular Cholesterol Transport Mechanisms of NPC2 Protein. | 2017 |
1 |
| 47 |
28784760 | 3.3 Å structure of Niemann-Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport. | 2017 Aug 22 |
2 |
| 48 |
28883878 | The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran. | 2017 Summer |
1 |
| 49 |
29084218 | Concerted regulation of npc2 binding to endosomal/lysosomal membranes by bis(monoacylglycero)phosphate and sphingomyelin. | 2017 Oct |
5 |
| 50 |
27130825 | Plant transcriptomes reveal hidden guests. | 2016 Jun 3 |
1 |