|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Most cases of NPC disease are associated with inactivating mutations of the NPC1 gene.
|
29897878 |
2018 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Niemann-Pick disease Type C (NP-C) is a rare, autosomal recessive lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes.
|
28808920 |
2017 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here we report the clinical and pathological findings from a 9-year-old female patient with the late infantile form of NPC due to NPC1 gene mutation.
|
28387450 |
2017 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The large majority of NPC disease is caused by mutations in NPC1, a large polytopic membrane protein that functions in late endosomes.
|
28193631 |
2017 |
|
Niemann-Pick Disease, Type C
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Because neurodegeneration is the main clinical feature of NPC disease, and FTY720 accumulates in the CNS and has several advantages over available histone deacetylase inhibitors now in clinical trials, our work provides a potential opportunity for treatment of this incurable disease.-Newton, J., Hait, N. C., Maceyka, M., Colaco, A., Maczis, M., Wassif, C. A., Cougnoux, A., Porter, F. D., Milstien, S., Platt, N., Platt, F. M., Spiegel, S. FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts.
|
28082351 |
2017 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Indeed, free cholesterol was retained in NPC1-containing vesicles, which is a hallmark of NPC.
|
28262793 |
2017 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In total across Periods 1 and 2, 10/236 (4%) patients had a confirmed diagnosis o NP-C based on gene sequencing (5/118 [4.2%] in each Period): all of these patients had two causal NPC1 mutations.
|
28222799 |
2017 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations' origin was investigated through selected exonic NPC1 polymorphisms encountered more frequently in a group of 37 Greek patients with clinical suspicion of NPC disease and in a group of 90 healthy Greek individuals, by the use of Haplore software.
|
28472934 |
2017 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Niemann-Pick disease type C (NPC) is an autosomal recessive lipid storage disorder, and the majority of cases are caused by mutations in the NPC1 gene.
|
28628327 |
2017 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Niemann-Pick disease type C (NPC) is a rare neurovisceral disease caused mainly by mutations in the NPC1 gene.
|
28167839 |
2017 |
|
Niemann-Pick Disease, Type C
|
0.900 |
Biomarker
|
disease |
MGD |
New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease.
|
28167839 |
2017 |
|
Niemann-Pick Disease, Type C
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
There was a significant reverse correlation between Cks1 and p27<sup>kip1</sup> protein expression in NPC (r = -0.189, P < 0.05).In addition, Kaplan-Meier survival curve showed that there was a significant tendency of shorter overall survival (OS) in NPC patients with Cks1 positive expression compared to negative ones, especially in patients with lymph node metastasis (P < 0.001, respectively).
|
28061788 |
2017 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Despite recent reports of the NPC1 structure depicting its overall architecture, the function of its C-terminal luminal domain (CTD) remains poorly understood even though 45% of NPC disease-causing mutations are in this domain.
|
28784760 |
2017 |
|
Niemann-Pick Disease, Type C
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
The reduced activity of P450 enzymes may be the result of bile acid deficiency/imbalance in Npc1-/- mice, as bile acid treatment significantly rescued P450 enzyme activity in Npc1-/- mice and has the potential to be an adjunctive therapy for NPC disease patients.
|
27019000 |
2016 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We report the case of a male Mexican patient with "variant" filipin staining and a juvenile form of NP-C attributed to compound heterozygosity for two previously reported pathogenic variants of NPC1: c.[1042C>T];[2780C>T] or p.[Arg348*];[Ala927Val].
|
27549128 |
2016 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The observation that Npc1 and Cstb deletion genetically interact to potently enhance the degenerative phenotype of the NPC cerebellum provides strong support for the notion that lysosomal membrane permeabilization contributes to cerebellar degeneration in NPC disease.
|
26908626 |
2016 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Niemann-Pick disease type C (NP-C) is a neurovisceral lysosomal cholesterol trafficking and lipid storage disorder caused by mutations in one of the two genes, NPC1 or NPC2.
|
27339554 |
2016 |
|
Niemann-Pick Disease, Type C
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
|
26981555 |
2016 |
|
Niemann-Pick Disease, Type C
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Our findings propose TMEM97 inhibition as a novel strategy to increase residual NPC1 levels in cells and a potential therapeutic target for NP-C.
|
27378690 |
2016 |
|
Niemann-Pick Disease, Type C
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Lysosomal Storage Disorders in Egyptian Children.
|
26830282 |
2016 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This Bulgarian NP-C cohort showed wide variability in terms of NPC1 mutations and predominant forms of neurological involvement.
|
26910362 |
2016 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Null mutations of the Niemann-Pick type C1 (NPC1) gene cause NPC disease, a lysosomal storage disorder characterized by cholesterol accumulation in late endosomes (LE) and lysosomes (Ly).
|
26283546 |
2015 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NPC1 protein are implicated in 95% of patients with NPC disease.
|
25873482 |
2015 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Our study showed that type A is the most prevalent in our population (100% of healthy controls, 96.9% of aHSCT patients, 90.8% of HNSCC patients, and 94.9% of NPC patients) and that type B was significantly associated with NPC (P = 0.019; RR = 8.90).
|
25879824 |
2015 |
|
Niemann-Pick Disease, Type C
|
0.900 |
Biomarker
|
disease |
BEFREE |
In this study, we evaluated the effective dosage of HPBCD in NPC model (Npc1(-/-)) mice, and determined serum HPBCD concentrations.
|
26027824 |
2015 |