| 1 |
31506030 | Molecular dynamics simulations reveal structural differences among wild-type NPC1 protein and its mutant forms. | 2020 Aug |
1 |
| 2 |
32354745 | Correction of Niemann-Pick type C1 trafficking and activity with the histone deacetylase inhibitor valproic acid. | 2020 Jun 5 |
1 |
| 3 |
23711246 | Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case. | 2014 Feb |
1 |
| 4 |
22048958 | A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations. | 2012 Feb 15 |
1 |
| 5 |
18216017 | Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding. | 2008 Mar 28 |
1 |
| 6 |
15774455 | Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C. | 2005 Apr |
3 |
| 7 |
12955717 | Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. | 2003 Oct |
1 |
| 8 |
11333381 | Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop. | 2001 Jun |
2 |
| 9 |
11349231 | Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. | 2001 Jun |
2 |
| 10 |
10942596 | Determinants of NPC1 expression and action: key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop. | 2000 Aug 25 |
6 |
| 11 |
10521290 | Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. | 1999 Nov |
3 |