Niemann-Pick disease type C.

Niemann-Pick disease type C. Orphanet J Rare Dis (2010) 4.86

Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med (2010) 3.42

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet (2010) 2.08

The natural history of Niemann-Pick disease type C in the UK. J Inherit Metab Dis (2006) 1.87

Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid. J Lipid Res (2009) 1.87

Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional study. Neurology (2010) 1.78

Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options. Eur J Neurol (2009) 1.76

Early steps in steroidogenesis: intracellular cholesterol trafficking. J Lipid Res (2011) 1.71

Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease. FEBS J (2008) 1.68

Cholesterol trafficking is required for mTOR activation in endothelial cells. Proc Natl Acad Sci U S A (2010) 1.53

Late endosomal cholesterol accumulation leads to impaired intra-endosomal trafficking. PLoS One (2007) 1.50

2-hydroxypropyl-beta-cyclodextrin raises hearing threshold in normal cats and in cats with Niemann-Pick type C disease. Pediatr Res (2010) 1.46

Elevated endosomal cholesterol levels in Niemann-Pick cells inhibit rab4 and perturb membrane recycling. Mol Biol Cell (2004) 1.40

Cohort study of neurocognitive functioning and adaptive behaviour in children and adolescents with Niemann-Pick Disease type C1. Dev Med Child Neurol (2015) 1.38

Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis (2013) 1.38

Clues to neuro-degeneration in Niemann-Pick type C disease from global gene expression profiling. PLoS One (2006) 1.37

Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding. Proc Natl Acad Sci U S A (2011) 1.35

Cholesterol-dependent balance between evoked and spontaneous synaptic vesicle recycling. J Physiol (2006) 1.35

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone. J Cell Mol Med (2008) 1.33

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators. Orphanet J Rare Dis (2013) 1.33

Dysregulation of cholesterol balance in the brain: contribution to neurodegenerative diseases. Dis Model Mech (2012) 1.31

δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders. J Biol Chem (2012) 1.23

New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat. Ther Clin Risk Manag (2009) 1.23

Multi-system disorders of glycosphingolipid and ganglioside metabolism. J Lipid Res (2010) 1.22

Normalization of cholesterol homeostasis by 2-hydroxypropyl-β-cyclodextrin in neurons and glia from Niemann-Pick C1 (NPC1)-deficient mice. J Biol Chem (2012) 1.22

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. Orphanet J Rare Dis (2012) 1.21

Niemann-Pick Type C disease and Alzheimer's disease: the APP-endosome connection fattens up. Am J Pathol (2004) 1.20

Complex lipid trafficking in Niemann-Pick disease type C. J Inherit Metab Dis (2014) 1.20

Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease. Curr Top Med Chem (2014) 1.19

Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration. Hum Mol Genet (2009) 1.18

Oxidative stress in Niemann-Pick disease, type C. Mol Genet Metab (2010) 1.18

Chemical screen to reduce sterol accumulation in Niemann-Pick C disease cells identifies novel lysosomal acid lipase inhibitors. Biochim Biophys Acta (2009) 1.16

Internalization of modified lipids by CD36 and SR-A leads to hepatic inflammation and lysosomal cholesterol storage in Kupffer cells. PLoS One (2012) 1.16

Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease. Sci Transl Med (2015) 1.14

Niemann-Pick C1 functions independently of Niemann-Pick C2 in the initial stage of retrograde transport of membrane-impermeable lysosomal cargo. J Biol Chem (2009) 1.14

Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C disease. Hum Mol Genet (2012) 1.14

Clinical, electrophysiological, and serum biochemical measures of progressive neurological and hepatic dysfunction in feline Niemann-Pick type C disease. Pediatr Res (2008) 1.13

Increased activity and altered subcellular distribution of lysosomal enzymes determine neuronal vulnerability in Niemann-Pick type C1-deficient mice. Am J Pathol (2009) 1.12

Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1. Hum Mol Genet (2012) 1.10

Attenuation of the lysosomal death pathway by lysosomal cholesterol accumulation. Am J Pathol (2011) 1.10

A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations. Hum Mol Genet (2011) 1.10

The pathogenesis of Niemann-Pick type C disease: a role for autophagy? Expert Rev Mol Med (2008) 1.10

Mutations of a Drosophila NPC1 gene confer sterol and ecdysone metabolic defects. Genetics (2005) 1.09

Metabolomic analyses of plasma reveals new insights into asphyxia and resuscitation in pigs. PLoS One (2010) 1.08

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling. J Lipid Res (2013) 1.07

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C. Orphanet J Rare Dis (2015) 1.05

Neuronal loss of Drosophila NPC1a causes cholesterol aggregation and age-progressive neurodegeneration. J Neurosci (2008) 1.04

Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data. J Inherit Metab Dis (2006) 1.01

Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. PLoS One (2012) 1.00

Lipid sorting and multivesicular endosome biogenesis. Cold Spring Harb Perspect Biol (2013) 0.98

Genetic connections between neurological disorders and cholesterol metabolism. J Lipid Res (2010) 0.98

Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil. J Inherit Metab Dis (2008) 0.98

Early etiology of Alzheimer's disease: tipping the balance toward autophagy or endosomal dysfunction? Acta Neuropathol (2015) 0.97

Genetic and laboratory diagnostic approach in Niemann Pick disease type C. J Neurol (2014) 0.97

Role for LAMP-2 in endosomal cholesterol transport. J Cell Mol Med (2011) 0.97

Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin. J Lipid Res (2014) 0.96

In vivo antisense oligonucleotide reduction of NPC1 expression as a novel mouse model for Niemann Pick type C- associated liver disease. Hepatology (2008) 0.96

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study. Orphanet J Rare Dis (2015) 0.94

Filovirus receptor NPC1 contributes to species-specific patterns of ebolavirus susceptibility in bats. Elife (2015) 0.93

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations. Neurogenetics (2009) 0.92

Inhibition of cholesterol recycling impairs cellular PrP(Sc) propagation. Cell Mol Life Sci (2009) 0.92

Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1. J Inherit Metab Dis (2013) 0.91

Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in zebrafish. J Lipid Res (2011) 0.90

Successful allogeneic bone marrow transplant for Niemann-Pick disease type C2 is likely to be associated with a severe 'graft versus substrate' effect. J Inherit Metab Dis (2010) 0.90

Drosophila melanogaster as a model organism of brain diseases. Int J Mol Sci (2009) 0.90

Development and validation of sensitive LC-MS/MS assays for quantification of HP-β-CD in human plasma and CSF. J Lipid Res (2014) 0.90

Role of cathepsin D in U18666A-induced neuronal cell death: potential implication in Niemann-Pick type C disease pathogenesis. J Biol Chem (2012) 0.89

Niemann-Pick type C disease in a 68-year-old patient. J Neurol Neurosurg Psychiatry (2006) 0.89

TNF-{alpha} plays a role in hepatocyte apoptosis in Niemann-Pick type C liver disease. J Lipid Res (2008) 0.89

Bone-marrow-derived mesenchymal stem cells promote proliferation and neuronal differentiation of Niemann-Pick type C mouse neural stem cells by upregulation and secretion of CCL2. Hum Gene Ther (2013) 0.88

Development of a Rab9 transgenic mouse and its ability to increase the lifespan of a murine model of Niemann-Pick type C disease. Am J Pathol (2008) 0.88

A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin. Orphanet J Rare Dis (2013) 0.88

Lysosomal-specific cholesterol reduction by biocleavable polyrotaxanes for ameliorating Niemann-Pick type C disease. Sci Rep (2014) 0.88

Ryanodine receptor antagonists adapt NPC1 proteostasis to ameliorate lipid storage in Niemann-Pick type C disease fibroblasts. Hum Mol Genet (2012) 0.85

Misdiagnosis of Niemann-Pick disease type C as Gaucher disease. J Inherit Metab Dis (2010) 0.85

Electrodiagnostic testing and histopathologic changes confirm peripheral nervous system myelin abnormalities in the feline model of niemann-pick disease type C. J Neuropathol Exp Neurol (2013) 0.85

Metals and cholesterol: two sides of the same coin in Alzheimer's disease pathology. Front Aging Neurosci (2014) 0.85

Cholesterol pathways affected by small molecules that decrease sterol levels in Niemann-Pick type C mutant cells. PLoS One (2010) 0.85

Miglustat treatment may reduce cerebrospinal fluid levels of the axonal degeneration marker tau in niemann-pick type C. JIMD Rep (2011) 0.84

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening. EBioMedicine (2015) 0.84

Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database. BMC Neurol (2015) 0.84

β-Cyclodextrin-threaded biocleavable polyrotaxanes ameliorate impaired autophagic flux in Niemann-Pick type C disease. J Biol Chem (2015) 0.84

Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult. Front Neurol (2017) 0.84

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders. PLoS One (2013) 0.83

CUP-1 is a novel protein involved in dietary cholesterol uptake in Caenorhabditis elegans. PLoS One (2012) 0.83

Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann-Pick C1. Mol Genet Metab (2015) 0.83

Somatic cell plasticity and Niemann-Pick type C2 protein: fibroblast activation. J Biol Chem (2010) 0.82

Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report. J Med Case Rep (2012) 0.82

Auditory phenotype of Niemann-Pick disease, type C1. Ear Hear (2013) 0.82

Cholinergic abnormalities, endosomal alterations and up-regulation of nerve growth factor signaling in Niemann-Pick type C disease. Mol Neurodegener (2012) 0.82

Visualization of cholesterol deposits in lysosomes of Niemann-Pick type C fibroblasts using recombinant perfringolysin O. Orphanet J Rare Dis (2014) 0.81

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1. Orphanet J Rare Dis (2014) 0.81

In vivo assessment of neurodegeneration in Niemann-Pick type C mice by quantitative T2 mapping and diffusion tensor imaging. J Magn Reson Imaging (2011) 0.81

Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat. J Neurol (2016) 0.80

Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C. J Inherit Metab Dis (2009) 0.80

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease. Ther Adv Neurol Disord (2016) 0.80

Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients. Orphanet J Rare Dis (2014) 0.80

Psychiatric manifestations of treatable hereditary metabolic disorders in adults. Ann Gen Psychiatry (2014) 0.80

Sphingolipids and mitochondrial function in budding yeast. Biochim Biophys Acta (2014) 0.79

Pathological roles of the VEGF/SphK pathway in Niemann-Pick type C neurons. Nat Commun (2014) 0.79

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. Hum Genet (1999) 1.23

Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2. Clin Genet (2007) 1.18

Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. Hum Genet (2001) 1.10

Non-neuronopathic Gaucher disease due to saposin C deficiency. Clin Genet (2007) 1.01

Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts. J Med Genet (2000) 0.98

Niemann-Pick type C disease in a 68-year-old patient. J Neurol Neurosurg Psychiatry (2006) 0.89

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. Clin Genet (1998) 0.86

Processing of iduronate 2-sulphatase in human fibroblasts. Biochem J (1995) 0.83

[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2]. Arch Pediatr (2005) 0.80

Types I and III Gaucher disease in Poland: incidence of the most common mutations and phenotypic manifestations. Eur J Hum Genet (1996) 0.79

[Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene]. Arch Pediatr (2012) 0.77

Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy. Eur J Med Genet (2012) 0.76

[Long QT syndrome in children: analysis of the Lyon series]. Arch Mal Coeur Vaiss (2006) 0.75

[Fabry disease among hypertrophic cardiomyopathy of genetic origin]. Rev Med Interne (2010) 0.75