|
rs80358259
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Here we expanded the analysis to cell lines carrying the prevalent mutation c.3182T>C and the novel mutation c.1180T>C, as well as to the determination of GM2 and GM3 gangliosides in NPC1 patient-specific iPSC-derived neurons and glia cells.
|
27923633 |
2017 |
|
rs80358259
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.
|
27238017 |
2016 |
|
rs80358259
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Toward this goal, we have generated an induced pluripotent stem cell line from a subject homozygous for the most frequent NPC1 mutation (p.I1061T) and subsequently created a stable line of neural stem cells (NSCs).
|
25637190 |
2015 |
|
rs80358259
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Toward this goal, we have generated an induced pluripotent stem cell line from a subject homozygous for the most frequent NPC1 mutation (p.I1061T) and subsequently created a stable line of neural stem cells (NSCs).
|
25637190 |
2015 |
|
rs80358259
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Compared with the Npc1(-/-) mouse, this Npc1(tm(I1061T)Dso) model displays a less severe, delayed form of NPC1 disease with respect to weight loss, decreased motor coordination, Purkinje cell death, lipid storage, and premature death.
|
26019327 |
2015 |
|
rs80358259
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Compared with the Npc1(-/-) mouse, this Npc1(tm(I1061T)Dso) model displays a less severe, delayed form of NPC1 disease with respect to weight loss, decreased motor coordination, Purkinje cell death, lipid storage, and premature death.
|
26019327 |
2015 |
|
rs80358259
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Cerebellar ataxia, vertical supranuclear gaze palsy, sensorineural deafness, epilepsy, dementia, and hallucinations in an adolescent male.
|
25149939 |
2014 |
|
rs80358259
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.
|
20521171 |
2010 |
|
rs80358259
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.
|
19744920 |
2010 |
|
rs80358259
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding.
|
18216017 |
2008 |
|
rs80358259
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.
|
16126423 |
2006 |
|
rs80358259
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?
|
16802107 |
2006 |
|
rs80358259
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.
|
16126423 |
2006 |
|
rs80358259
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
|
16098014 |
2005 |
|
rs80358259
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
|
16098014 |
2005 |
|
rs80358259
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.
|
15774455 |
2005 |
|
rs80358259
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease.
|
12554680 |
2003 |
|
rs80358259
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
|
12955717 |
2003 |
|
rs80358259
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.
|
12401890 |
2002 |
|
rs80358259
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
|
11754101 |
2002 |
|
rs80358259
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease.
|
12408188 |
2002 |
|
rs80358259
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.
|
11545687 |
2002 |
|
rs80358259
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.
|
11479732 |
2001 |
|
rs80358259
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
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.
|
11333381 |
2001 |
|
rs80358259
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
|
11349231 |
2001 |