|
Niemann-Pick Disease, Type C
|
|
0.740 |
GeneticVariation
|
BEFREE |
We assessed mutant protein folding using computer-based molecular dynamics (MD) simulations and molecular docking of the three most common <i>NPC1</i> mutations, all of which result in changes in a cysteine-rich luminal loop region of the protein: a) I1061T is the most commonly detected variant in patients with NP-C worldwide; b) P1007A is the second most common variant, frequently detected in Portuguese, British and German patients; c) G992W occurs most often in patients of Acadian descent.
|
31506030 |
2019 |
|
Niemann-Pick Disease, Type C1
|
|
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 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.
|
27238017 |
2016 |
|
Niemann-Pick Disease, Type C1
|
|
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 |
|
Niemann-Pick Disease, Type C1
|
|
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 |
|
Niemann-Pick Disease, Type C1
|
|
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 |
|
Niemann-Pick Disease, Type C1
|
|
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 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
CausalMutation
|
CLINVAR |
Cerebellar ataxia, vertical supranuclear gaze palsy, sensorineural deafness, epilepsy, dementia, and hallucinations in an adolescent male.
|
25149939 |
2014 |
|
Maturation defect
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we show that several oxysterols and their derivatives act as pharmacological chaperones; binding of these compounds to I1061T NPC1 corrects the localization/maturation defect of the mutant protein.
|
23521797 |
2013 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.
|
22572546 |
2012 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.
|
22572546 |
2012 |
|
Niemann-Pick Disease, Type C
|
|
0.740 |
GeneticVariation
|
BEFREE |
Some HDAC inhibitors lead to a dramatic correction in the NPC phenotype in cells with either one or two copies of the NPC1(I1061T) mutation, and for several of the inhibitors, correction is associated with increased expression of NPC1 protein.
|
21436030 |
2011 |
|
Nasopharyngeal carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Some HDAC inhibitors lead to a dramatic correction in the NPC phenotype in cells with either one or two copies of the NPC1(I1061T) mutation, and for several of the inhibitors, correction is associated with increased expression of NPC1 protein.
|
21436030 |
2011 |
|
Niemann-Pick Disease, Type C1
|
|
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 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
CausalMutation
|
CLINVAR |
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.
|
19744920 |
2010 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Niemann-Pick disease type C.
|
20525256 |
2010 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.
|
19744920 |
2010 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Niemann-Pick disease type C.
|
20525256 |
2010 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.
|
19744920 |
2010 |
|
Niemann-Pick Disease, Type C1
|
|
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 |
|
Niemann-Pick Disease, Type C
|
|
0.740 |
CausalMutation
|
CLINVAR |
Our findings provide the first description of an endoplasmic reticulum trafficking defect as a mechanism for human NPC disease, shedding light on the mechanism by which the NPC1(I1061T) mutation causes disease and suggesting novel approaches to treat NPC disease caused by the NPC1(I1061T) mutation.
|
18216017 |
2008 |
|
Niemann-Pick Disease, Type C1
|
|
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 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?
|
16802107 |
2006 |
|
Niemann-Pick Disease, Type C1
|
|
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 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
|
16098014 |
2005 |