Published in PLoS One on November 03, 2011
Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin. J Lipid Res (2014) 0.96
Niemann-pick C1 is essential for ebolavirus replication and pathogenesis in vivo. MBio (2015) 0.93
Hepatic entrapment of esterified cholesterol drives continual expansion of whole body sterol pool in lysosomal acid lipase-deficient mice. Am J Physiol Gastrointest Liver Physiol (2014) 0.84
Systemic administration of 2-hydroxypropyl-β-cyclodextrin to symptomatic Npc1-deficient mice slows cholesterol sequestration in the major organs and improves liver function. Clin Exp Pharmacol Physiol (2014) 0.80
Characterization of Niemann-Pick Type C2 protein expression in multiple cancers using a novel NPC2 monoclonal antibody. PLoS One (2013) 0.79
Ontogenic changes in lung cholesterol metabolism, lipid content, and histology in mice with Niemann-Pick type C disease. Biochim Biophys Acta (2013) 0.79
Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells. Hum Mol Genet (2016) 0.76
A simple method for the isolation and purification of total lipides from animal tissues. J Biol Chem (1957) 173.99
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science (1997) 6.66
Identification of HE1 as the second gene of Niemann-Pick C disease. Science (2000) 5.08
Niemann-Pick disease type C. Orphanet J Rare Dis (2010) 4.86
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol (2007) 3.94
Molecular targets in pulmonary fibrosis: the myofibroblast in focus. Chest (2007) 3.16
Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. PLoS One (2009) 2.90
Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse. Proc Natl Acad Sci U S A (2009) 2.88
NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes. Proc Natl Acad Sci U S A (2008) 2.81
Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science (1968) 2.40
The adult form of Niemann-Pick disease type C. Brain (2006) 2.33
Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport. Proc Natl Acad Sci U S A (2004) 2.32
Critical role for glycosphingolipids in Niemann-Pick disease type C. Curr Biol (2001) 2.22
Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease. Proc Natl Acad Sci U S A (2003) 2.21
Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII. Proc Natl Acad Sci U S A (2005) 2.11
Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations. J Neuropathol Exp Neurol (2001) 2.01
Developmentally regulated mannose 6-phosphate receptor-mediated transport of a lysosomal enzyme across the blood-brain barrier. Proc Natl Acad Sci U S A (2004) 1.97
Endocytosis of beta-cyclodextrins is responsible for cholesterol reduction in Niemann-Pick type C mutant cells. Proc Natl Acad Sci U S A (2010) 1.89
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
Structural basis of sterol binding by NPC2, a lysosomal protein deficient in Niemann-Pick type C2 disease. J Biol Chem (2007) 1.83
Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis. Mol Ther (2008) 1.82
Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature. Neurochem Res (1999) 1.66
Weekly cyclodextrin administration normalizes cholesterol metabolism in nearly every organ of the Niemann-Pick type C1 mouse and markedly prolongs life. Pediatr Res (2010) 1.59
Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking. Biochim Biophys Acta (2009) 1.54
Cholesterol accumulation and liver cell death in mice with Niemann-Pick type C disease. Hepatology (2005) 1.48
Treatment of lysosomal storage disorders : progress with enzyme replacement therapy. Drugs (2007) 1.47
Long-term miglustat therapy in children with Niemann-Pick disease type C. J Child Neurol (2009) 1.46
Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J Inherit Metab Dis (2004) 1.45
Therapy for lysosomal storage disorders. IUBMB Life (2010) 1.30
Cholesterol is sequestered in the brains of mice with Niemann-Pick type C disease but turnover is increased. J Neuropathol Exp Neurol (2000) 1.29
The Niemann-Pick type C2 protein loads isoglobotrihexosylceramide onto CD1d molecules and contributes to the thymic selection of NKT cells. J Exp Med (2007) 1.29
Clinical spectrum of Niemann-Pick disease type C. Neurology (1989) 1.27
Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis. Clin Genet (2009) 1.24
Epinephrine enhances lysosomal enzyme delivery across the blood brain barrier by up-regulation of the mannose 6-phosphate receptor. Proc Natl Acad Sci U S A (2007) 1.18
Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration. Hum Mol Genet (2009) 1.18
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2. Clin Genet (2007) 1.18
Defective cholesterol trafficking in Niemann-Pick C-deficient cells. FEBS Lett (2010) 1.16
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
Mannose 6-phosphate receptor-mediated transport of sulfamidase across the blood-brain barrier in the newborn mouse. Mol Ther (2008) 1.14
Molecular cloning and characterization of HE1, a major secretory protein of the human epididymis. Biol Reprod (1996) 1.11
Cerebrovascular permeability to azo dyes and plasma proteins in rodents of different ages. Neuropathol Appl Neurobiol (1993) 1.09
Convection perfusion of glucocerebrosidase for neuronopathic Gaucher's disease. Ann Neurol (2005) 1.08
Interendothelial junctional changes underlie the developmental 'tightening' of the blood-brain barrier. Brain Res (1987) 1.06
Current enzyme replacement therapy for the treatment of lysosomal storage diseases. Pediatr Ann (2009) 1.05
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat. Am J Med Genet A (2011) 1.05
Primary structure of EPV20, a secretory glycoprotein containing a previously uncharacterized type of domain. Eur J Biochem (1997) 1.01
NPC2 is expressed in human and murine liver and secreted into bile: potential implications for body cholesterol homeostasis. Hepatology (2006) 0.97
Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue. Med Sci Monit (2008) 0.95
Allopregnanolone treatment delays cholesterol accumulation and reduces autophagic/lysosomal dysfunction and inflammation in Npc1-/- mouse brain. Brain Res (2009) 0.92
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
Immune response to enzyme replacement therapy: 4-sulfatase epitope reactivity of plasma antibodies from MPS VI cats. Mol Genet Metab (1999) 0.89
Recovery from liver disease in a Niemann-Pick type C mouse model. J Lipid Res (2010) 0.85
NPC2 regulates biliary cholesterol secretion via stimulation of ABCG5/G8-mediated cholesterol transport. Gastroenterology (2011) 0.84
Somatic cell plasticity and Niemann-pick type C2 protein: adipocyte differentiation and function. J Biol Chem (2010) 0.83
Somatic cell plasticity and Niemann-Pick type C2 protein: fibroblast activation. J Biol Chem (2010) 0.82
Involvement of Niemann-Pick type C2 protein in hematopoiesis regulation. Stem Cells (2006) 0.80
[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2]. Arch Pediatr (2005) 0.80
A novel role for Niemann-Pick disease type 2C protein in papillae formation. PLoS One (2011) 0.79
Bronchioalveolar lavage with perfluorochemical liquid during conventional ventilation. Pediatr Crit Care Med (2007) 0.79
An important role for type III interferon (IFN-lambda/IL-28) in TLR-induced antiviral activity. J Immunol (2008) 3.75
Brain cholesterol: long secret life behind a barrier. Arterioscler Thromb Vasc Biol (2004) 2.57
Differential tension between secondary and primary mitral chordae in an acute in-vivo porcine model. J Heart Valve Dis (2002) 2.01
Microglia protect neurons against ischemia by synthesis of tumor necrosis factor. J Neurosci (2009) 1.97
Interleukin-1beta and tumor necrosis factor-alpha are expressed by different subsets of microglia and macrophages after ischemic stroke in mice. J Neuroinflammation (2008) 1.92
The liver X receptor-{beta} is essential for maintaining cholesterol homeostasis in the testis. Endocrinology (2005) 1.69
Amelioration of long-term renal changes in obese type 2 diabetic mice by a neutralizing vascular endothelial growth factor antibody. Diabetes (2002) 1.67
Crossing the barrier: net flux of 27-hydroxycholesterol into the human brain. J Lipid Res (2005) 1.60
Oxysterols and neurodegenerative diseases. Mol Aspects Med (2009) 1.42
A physical mechanism for coupling bone resorption and formation in adult human bone. Am J Pathol (2008) 1.40
Positron emission tomography (PET) imaging with [11C]-labeled erlotinib: a micro-PET study on mice with lung tumor xenografts. Cancer Res (2009) 1.39
Resolution of psoriasis upon blockade of IL-15 biological activity in a xenograft mouse model. J Clin Invest (2003) 1.37
The effect of chemical modification and nanoparticle formulation on stability and biodistribution of siRNA in mice. Mol Ther (2009) 1.35
Regulation by SREBP-2 defines a potential link between isoprenoid and adenosylcobalamin metabolism. Biochem Biophys Res Commun (2007) 1.29
Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene. Acta Neuropathol (2009) 1.23
Saddle-shaped mitral valve annuloplasty rings improve leaflet coaptation geometry. J Thorac Cardiovasc Surg (2011) 1.18
Dlk1/FA1 is a novel endocrine regulator of bone and fat mass and its serum level is modulated by growth hormone. Endocrinology (2007) 1.16
Side chain oxidized oxysterols in cerebrospinal fluid and the integrity of blood-brain and blood-cerebrospinal fluid barriers. J Lipid Res (2003) 1.16
Validation of sick leave measures: self-reported sick leave and sickness benefit data from a Danish national register compared to multiple workplace-registered sick leave spells in a Danish municipality. BMC Public Health (2012) 1.11
Studies on the transcriptional regulation of cholesterol 24-hydroxylase (CYP46A1): marked insensitivity toward different regulatory axes. J Biol Chem (2005) 1.10
A simple method for deriving functional MSCs and applied for osteogenesis in 3D scaffolds. Sci Rep (2013) 1.07
Reactive microgliosis engages distinct responses by microglial subpopulations after minor central nervous system injury. J Neurosci Res (2005) 1.01
Metabolic markers obtained by microdialysis can detect secondary intestinal ischemia: an experimental study of ischemia in porcine intestinal segments. World J Surg (2010) 1.01
Genetic connections between neurological disorders and cholesterol metabolism. J Lipid Res (2010) 0.98
Mannan-binding lectin deficiency modulates the humoral immune response dependent on the genetic environment. Immunology (2009) 0.97
Oxysterols in human circulation: which role do they have? Curr Opin Lipidol (2002) 0.96
Studies on the cholesterol-free mouse: strong activation of LXR-regulated hepatic genes when replacing cholesterol with desmosterol. Arterioscler Thromb Vasc Biol (2007) 0.96
Differences in origin of reactive microglia in bone marrow chimeric mouse and rat after transient global ischemia. J Neuropathol Exp Neurol (2011) 0.96
Identification and characterization of GFAPkappa, a novel glial fibrillary acidic protein isoform. Glia (2007) 0.93
On the mechanism of cerebral accumulation of cholestanol in patients with cerebrotendinous xanthomatosis. J Lipid Res (2007) 0.93
Oxysterols and Parkinson's disease: evidence that levels of 24S-hydroxycholesterol in cerebrospinal fluid correlates with the duration of the disease. Neurosci Lett (2013) 0.92
Population control of resident and immigrant microglia by mitosis and apoptosis. Am J Pathol (2007) 0.92
Mitral ring annuloplasty relieves tension of the secondary but not primary chordae tendineae in the anterior mitral leaflet. J Thorac Cardiovasc Surg (2010) 0.91
Genomics of the future: identification of quantitative trait loci in the mouse. Genome Res (2005) 0.91
Naked siLNA-mediated gene silencing of lung bronchoepithelium EGFP expression after intravenous administration. Oligonucleotides (2009) 0.91
Reduction of choroidal neovascularization in mice by adeno-associated virus-delivered anti-vascular endothelial growth factor short hairpin RNA. J Gene Med (2012) 0.90
Acute hyperinsulinemia restrains endotoxin-induced systemic inflammatory response: an experimental study in a porcine model. Anesthesiology (2004) 0.89
Inter -and intraobserver variation of ultrasonographic cartilage thickness assessments in small and large joints in healthy children. Pediatr Rheumatol Online J (2009) 0.89
ErbB1 and prostate cancer: ErbB1 activity is essential for androgen-induced proliferation and protection from the apoptotic effects of LY294002. Prostate (2003) 0.88
The response to oestrogen deprivation of the cartilage collagen degradation marker, CTX-II, is unique compared with other markers of collagen turnover. Arthritis Res Ther (2009) 0.87
Transcriptional regulation of cholesterol 24-hydroxylase by histone deacetylase inhibitors. Biochem Biophys Res Commun (2008) 0.85
Postural balance in low back pain patients: Intra-session reliability of center of pressure on a portable force platform and of the one leg stand test. Gait Posture (2011) 0.85
Spatio-temporal regulation of ADAR editing during development in porcine neural tissues. RNA Biol (2012) 0.84
A functional polymorphism in the HMGCR promoter affects transcriptional activity but not the risk for Alzheimer disease in Swedish populations. Brain Res (2010) 0.84
Efficacy of transgene expression in porcine skin as a function of electrode choice. Bioelectrochemistry (2011) 0.83
Adeno-associated virus-delivered polycistronic microRNA-clusters for knockdown of vascular endothelial growth factor in vivo. J Gene Med (2012) 0.83
Topical application of valrubicin has a beneficial effect on developing skin tumors. Carcinogenesis (2010) 0.82
Neutrophils and platelets accumulate in the heart, lungs, and kidneys after cardiopulmonary bypass in neonatal pigs. Crit Care Med (2002) 0.82
Superior fixation of pegged trabecular metal over screw-fixed pegged porous titanium fiber mesh: a randomized clinical RSA study on cementless tibial components. Acta Orthop (2011) 0.82
Knee flexion influences periprosthetic BMD measurement in the tibia. Suggestions for a reproducible clinical scan protocol. Acta Orthop (2010) 0.82
Protection and Systemic Translocation of siRNA Following Oral Administration of Chitosan/siRNA Nanoparticles. Mol Ther Nucleic Acids (2013) 0.82
Type of hematological malignancy is crucial for the return to work prognosis: a register-based cohort study. J Cancer Surviv (2013) 0.82
Minimal engraftment of human CD34+ cells mobilized from healthy donors in the infarcted heart of athymic nude rats. Stem Cells Dev (2009) 0.81
Transformation of human mesenchymal stem cells in radiation carcinogenesis: long-term effect of ionizing radiation. Regen Med (2008) 0.81
Peritoneal macrophages mediated delivery of chitosan/siRNA nanoparticle to the lesion site in a murine radiation-induced fibrosis model. Acta Oncol (2012) 0.81
Normalization of growth in hypophysectomized mice using hydrodynamic transfer of the human growth hormone gene. Am J Physiol Endocrinol Metab (2003) 0.81
Postural balance in low back pain patients: criterion-related validity of centre of pressure assessed on a portable force platform. Eur Spine J (2011) 0.81
Expression of short-chain acyl-CoA dehydrogenase (SCAD) proteins in the liver of SCAD deficient mice after hydrodynamic gene transfer. Mol Genet Metab (2003) 0.80
The involvement of growth hormone (GH), insulin-like growth factors (IGFs) and vascular endothelial growth factor (VEGF) in diabetic kidney disease. Curr Pharm Des (2004) 0.80
Cell surface detachment of pregnancy-associated plasma protein-A requires the formation of intermolecular proteinase-inhibitor disulfide bonds and glycosaminoglycan covalently bound to the inhibitor. J Biol Chem (2006) 0.80
Valrubicin in a topical formulation treats psoriasis in a xenograft transplantation model. J Invest Dermatol (2009) 0.79
Are environmental characteristics in the municipal eldercare, more closely associated with frequent short sick leave spells among employees than with total sick leave: a cross-sectional study. BMC Public Health (2013) 0.79
Spatial distribution of transgenic protein after gene electrotransfer to porcine muscle. Hum Gene Ther Methods (2013) 0.79
Characterization and expression analysis in the developing embryonic brain of the porcine FET family: FUS, EWS, and TAF15. Gene (2011) 0.78
Sestamibi single photon emission computed tomography immediately after primary percutaneous coronary intervention identifies patients at risk for large infarcts. Am Heart J (2006) 0.78
Timing of Toll-like receptor 9 agonist administration in pneumococcal vaccination impacts both humoral and cellular immune responses as well as nasopharyngeal colonization in mice. Infect Immun (2012) 0.78
The inflammatory response in blood and in remote organs following acute kidney injury. APMIS (2013) 0.78
Differential effects on kidney and liver growth of a non-viral hGH-expression vector in hypophysectomized mice. Growth Horm IGF Res (2007) 0.78
Object recognition as a measure of memory in 1-2 years old transgenic minipigs carrying the APPsw mutation for Alzheimer's disease. Transgenic Res (2012) 0.78
Aromatic l-amino acid decarboxylase expression profiling and isoform detection in the developing porcine brain. Brain Res (2009) 0.77
Sick leave patterns as predictors of disability pension or long-term sick leave: a 6.75-year follow-up study in municipal eldercare workers. BMJ Open (2014) 0.77
Analysis of polyethylene wear in plain radiographs. Acta Orthop (2009) 0.77
Bi-lateral changes to hippocampal cholesterol levels during epileptogenesis and in chronic epilepsy following focal-onset status epilepticus in mice. Brain Res (2012) 0.77
Hypercholesterolemia in pregnant mice does not affect atherosclerosis in adult offspring. Atherosclerosis (2003) 0.76
Effect of renal and non-renal ischemia/reperfusion on cell-mediated immunity in organs and plasma. APMIS (2010) 0.75
Oral anticoagulation therapy in children: successfully controlled by self-management. Heart Surg Forum (2004) 0.75
[Rare form of Creutzfeldt-Jakob disease]. Ugeskr Laeger (2010) 0.75
Immediate placement and provisionalization of single-tooth implants involving a definitive individual abutment: a clinical and radiographic retrospective study. Clin Oral Implants Res (2012) 0.75
Apical myocardial stunning in a large size porcine model assessed by strain and strain rate echocardiography. Echocardiography (2007) 0.75
Specific recognition of the C-terminal end of A beta 42 by a high affinity monoclonal antibody. Mol Immunol (2009) 0.75