|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Niemann-Pick type C disease (NPC) is a genetically determined neurodegenerative metabolic disease resulting from the mutations in the NPC1 or NPC2 genes.
|
31197681 |
2019 |
|
Niemann-Pick Disease, Type C
|
0.900 |
Biomarker
|
disease |
BEFREE |
Niemann-Pick disease type C (NP-C) is an inherited neurodegenerative disease (1 per 100 000 newborns) caused by NPC proteins impairment that leads to unesterified cholesterol accumulation in late endosomal/lysosomal compartments.
|
31296176 |
2019 |
|
Niemann-Pick Disease, Type C
|
0.900 |
Biomarker
|
disease |
BEFREE |
Two proteins have been linked as the critical components in the molecular mechanisms involved in the Niemann Pick type C (NPC) disease: NPC1, a 140 kDa polytopic membrane-bound protein, and the smaller (132 residues), water-soluble NPC2 protein.
|
30942586 |
2019 |
|
Niemann-Pick Disease, Type C
|
0.900 |
Biomarker
|
disease |
BEFREE |
Statistical methods were used to analyze the correlation between IL-17A expression and the clinicopathological variables of NPC.The NPC patients were followed up.
|
31456038 |
2019 |
|
Niemann-Pick Disease, Type C
|
0.900 |
Biomarker
|
disease |
BEFREE |
We propose a model for sterol integration that clarifies the role of NPC proteins in this essential eukaryotic pathway and that rationalizes mutations in patients with Niemann-Pick disease type C.
|
31543266 |
2019 |
|
Niemann-Pick Disease, Type C
|
0.900 |
Biomarker
|
disease |
BEFREE |
Niemann-Pick type C disease (NPCD) is a neurodegenerative disease associated with increases in cellular cholesterol and glycolipids and most commonly caused by defective NPC1, a late endosomal protein.
|
30872158 |
2019 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Extensive workup for splenomegaly revealed NPC1 mutations consistent with NPC disease.
|
31352388 |
2019 |
|
Niemann-Pick Disease, Type C
|
0.900 |
Biomarker
|
disease |
BEFREE |
2-Hydroxypropyl-β-cyclodextrin (HP-β-CD) is an experimental therapy for Niemann-Pick disease type C (NPC) that reduced neuronal cholesterol and ganglioside storage, reduced Purkinje cell death, and increased lifespan in npc1-/- mice and NPC1 cats.
|
31707730 |
2019 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Niemann Pick Type-C disease (NPC) is an inherited lysosomal storage disease (LSD) caused by pathogenic variants in the Npc1 or Npc2 genes that lead to the accumulation of cholesterol and lipids in lysosomes.
|
31605022 |
2019 |
|
Niemann-Pick Disease, Type C
|
0.900 |
Biomarker
|
disease |
BEFREE |
The highest hydrolysis activity of An-lipase was towards <i>p</i>NPC (C8), followed by <i>p</i>NPB (C4) and <i>p</i>NPA (C2), then <i>p</i>NPL (C12).
|
31168437 |
2019 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene.
|
30820861 |
2019 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Hypomyelination in the central nerves system (CNS) is one of the most obviously pathological features in Niemann-Pick Type C disease (NPC), which is a rare neurodegenerative disorder caused by mutations in the NPC intracellular cholesterol transporter 1 or 2 (Npc1 or Npc2).
|
30866987 |
2019 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
NPC is inherited in an autosomal recessive pattern from mutations in NPC1 or NPC2 genes.The etiology of NPC is poorly defined.
|
31847862 |
2019 |
|
Niemann-Pick Disease, Type C
|
0.900 |
Biomarker
|
disease |
BEFREE |
The accumulation of lipids in the late endosomes and lysosomes of Niemann⁻Pick type C disease (NPCD) cells is a consequence of the dysfunction of one protein (usually NPC1) but induces dysfunction in many proteins.
|
30736449 |
2019 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A mutation in a region of the NPC1 gene commonly altered in NPC patients reduces NPC1 levels at synapses due to enhanced NPC1 protein degradation.
|
31535451 |
2019 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes.
|
30285904 |
2018 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Niemann-Pick disease type C (NP-C) is a rare, progressive neurodegenerative disease caused by mutations in the NPC1 or the NPC2 gene.
|
29871644 |
2018 |
|
Niemann-Pick Disease, Type C
|
0.900 |
Biomarker
|
disease |
BEFREE |
Niemann-Pick type C disease (NP-C) is a fatal neurodegenerative disorder caused by a deficiency of NPC1 gene function, which leads to severe neuroinflammation such as astrogliosis.
|
29397865 |
2018 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Niemann-Pick disease type C (NPC) is a lysosomal storage disorder caused by mutations in either NPC-1 or NPC-2 genes, resulting in abnormal intracellular cholesterol trafficking.
|
30066180 |
2018 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
TCF treatment significantly delayed both neurodegeneration and death in the Npc1 <sup>nmf164</sup> murine model of Niemann-Pick Type C (NPC) disease.
|
29497113 |
2018 |
|
Niemann-Pick Disease, Type C
|
0.900 |
Biomarker
|
disease |
BEFREE |
We assessed the presence of NPC1 and Ptc1 proteins and evaluated the relative distribution and morphology of primary cilia in fibroblasts from five NPC1 patients and controls, and in normal fibroblasts treated with 3-ß-[2-(diethylamino)ethoxy]androst-5-en-17-one (U18666A), a cholesterol transport-inhibiting drug that is widely used to mimic NPC.
|
28332184 |
2018 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We provide detailed investigation of the CLR-NPC1 (NTD) binding process; and propose the mechanism, by which Q92R mutation causes NPC disease.
|
30183109 |
2018 |
|
Niemann-Pick Disease, Type C
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Niemann-Pick Type C (NPC) disease is a rare neurovisceral disorder caused by mutations of either NPC1 or NPC2 gene and characterized by defective intracellular transport of cholesterol and glycosphingolipids, leading to neuron loss and myelin aberration in the central nervous system.
|
29406968 |
2018 |
|
Niemann-Pick Disease, Type C
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Subsequent analyses showed that alexidine specifically increased levels of NPC1 transcript and mature protein in both control and NPC patient cells.
|
29659804 |
2018 |
|
Niemann-Pick Disease, Type C
|
0.900 |
Biomarker
|
disease |
BEFREE |
Do GWAS and studies of heterozygotes for NPC1 and/or NPC2 explain why NPC disease cases are so rare?
|
30209687 |
2018 |