|
Niemann-Pick Disease, Type C1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Niemann-Pick C1 (NPC1) disease is a rare genetic disorder triggered by mutations in NPC1, a multi-spanning transmembrane protein that is trafficked through the exocytic pathway to late endosomes (LE) and lysosomes (Ly) (LE/Ly) to globally manage cholesterol homeostasis.
|
31509197 |
2020 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Niemann-Pick disease, type C1 (NPC1) is a rare neurodegenerative lysosomal storage disease with a wide spectrum of clinical manifestation.
|
31668555 |
2020 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Niemann-Pick disease type C1 (NPC1) is a rare, neurodegenerative cholesterol storage disorder.
|
30172462 |
2019 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Niemann-Pick disease, type C1 (NPC1) is a rare, autosomal recessive, lipid storage disorder caused by mutations in <i>NPC1</i>.
|
30870990 |
2019 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Niemann-Pick Disease Type C1 (NPC1) is a rare hereditary neurodegenerative disease belonging to the family of lysosomal storage disorders.
|
31847086 |
2019 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Niemann-Pick disease, type C1 (NPC1) is a fatal, autosomal recessive, neurodegenerative disorder caused by mutations in the NPC1 gene.
|
30888112 |
2019 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the current study, we performed matrix-assisted laser desorption/ionization-mass spectrometry imaging (MALDI-MSI) to evaluate lipid changes during disease progression (asymptomatic to symptomatic time points) in Niemann-Pick disease, type C1 (NPC1), a cerebellar neurodegenerative, lipid storage disorder.
|
31254056 |
2019 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this review, we focus on Niemann-Pick disease type C1 (NPC1), which is a rare lipid-storage disorder.
|
31500175 |
2019 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Niemann-Pick disease, type C1 (NPC1) is a neurodegenerative condition that arises from mutations of NPC1 and is often diagnosed in children.
|
31187454 |
2019 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Niemann-Pick disease, type C1 (NPC1) is a fatal, autosomal recessive, neurodegenerative disorder caused by mutations in the NPC1 gene.
|
31394590 |
2019 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Niemann-Pick disease type C1 (NPC1) is a fatal, neurodegenerative, cholesterol storage disorder.
|
31201291 |
2019 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we found that AST induced cholesterol accumulation in the lysosome by binding to the sterol-sensing domain of Niemann-Pick disease, type C1 (NPC1), a lysosomal surface protein responsible for cholesterol transport.
|
30123067 |
2018 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Niemann-Pick disease type C1 (NPC1) is a rare autosomal recessive lysosomal storage disease primarily caused by mutations in <i>NPC1</i> NPC1 is characterized by abnormal accumulation of unesterified cholesterol and glycolipids in late endosomes and lysosomes.
|
30135069 |
2018 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
Biomarker
|
disease |
BEFREE |
The Npc1<sup>nmf164</sup> allele of Npc1 provides a mouse model for Niemann-Pick disease type C1 (NPC1), a genetic disease known to have a widely variable phenotype.
|
29223359 |
2018 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Niemann-Pick type C1 (NPC1) disease is a lysosomal storage disorder caused by mutation of Npc1 or Npc2 gene, resulting in various progressive pathological features.
|
29956298 |
2018 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Niemann-Pick Type C1 (NPC1) disease is a fatal neurovisceral disorder caused by dysfunction of NPC1 protein, which plays a role in intracellular cholesterol trafficking.
|
30249300 |
2018 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.
|
30119649 |
2018 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Olfactory impairment is one of the earliest symptoms in neurodegenerative disorders that has also been documented in Niemann-Pick disease type C1 (NPC1).
|
30424529 |
2018 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
NPC1 loss-of-function mutations in humans cause NPC1 disease, a rare autosomal-recessive lipid-storage disorder characterized by progressive and lethal neurodegeneration, as well as liver and lung failure, due to cholesterol infiltration.
|
29325023 |
2018 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We identified CD22 as a marker of dysregulated microglia in Npc1 mutant mice and subsequently demonstrated that elevated cerebrospinal fluid levels of CD22 in NPC1 patients responds to HPβCD administration.
|
29617956 |
2018 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Niemann-Pick disease, type C1 (NPC1) is an inborn error of metabolism that results in endolysosomal accumulation of unesterified cholesterol.
|
30392741 |
2018 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
Biomarker
|
disease |
BEFREE |
The feline model of Niemann-Pick disease, type C1 (NPC1) recapitulates the clinical, neuropathological, and biochemical abnormalities present in children with NPC1.
|
29346563 |
2018 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Niemann-Pick-disease type C1 (NPC1) is an autosomal-recessive cholesterol-storage disorder.
|
29587349 |
2018 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Niemann-Pick disease type C1 (NPC1) is a neurodegenerative, lysosomal storage disorder characterized by accumulation of unesterified cholesterol and sphingolipids in the endo-lysosomal system.
|
30266834 |
2018 |
|
Niemann-Pick Disease, Type C1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.
|
29197565 |
2018 |