Found: 44
Select item for more details and to access through your institution.
Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann-Pick disease type C1 mice.
- Published in:
- Life Science Alliance, 2021, v. 4, n. 10, p. 1, doi. 10.26508/lsa.202101040
- By:
- Publication type:
- Article
Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann–Pick C1 (NPC1).
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 6022, doi. 10.1093/hmg/ddu331
- By:
- Publication type:
- Article
Genetic screening for Niemann–Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4349, doi. 10.1093/hmg/ddt284
- By:
- Publication type:
- Article
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann–Pick disease, type C1.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 17, p. 3508, doi. 10.1093/hmg/ddt206
- By:
- Publication type:
- Article
Microarray expression analysis and identification of serum biomarkers for Niemann–Pick disease, type C1.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 16, p. 3632, doi. 10.1093/hmg/dds193
- By:
- Publication type:
- Article
An optical nanoreporter of endolysosomal lipid accumulation reveals enduring effects of diet on hepatic macrophages in vivo.
- Published in:
- Science Translational Medicine, 2018, v. 10, n. 461, p. 1, doi. 10.1126/scitranslmed.aar2680
- By:
- Publication type:
- Article
Development of a bile acid–based newborn screen for Niemann-Pick disease type C.
- Published in:
- Science Translational Medicine, 2016, v. 8, n. 337, p. 1, doi. 10.1126/scitranslmed.aaf2326
- By:
- Publication type:
- Article
Altered transition metal homeostasis in Niemann–Pick disease, type C1.
- Published in:
- Metallomics, 2014, v. 6, n. 3, p. 542, doi. 10.1039/c3mt00308f
- By:
- Publication type:
- Article
Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy ( Krabbe's disease).
- Published in:
- Journal of Neuroscience Research, 2016, v. 94, n. 11, p. 1007, doi. 10.1002/jnr.23838
- By:
- Publication type:
- Article
ApoA-1 in Diabetes: Damaged Goods.
- Published in:
- 2010
- By:
- Publication type:
- Opinion
Circulating ceramide ratios and risk of vascular brain aging and dementia.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 2, p. 160, doi. 10.1002/acn3.50973
- By:
- Publication type:
- Article
Bariatric Surgery-Induced Cardiac and Lipidomic Changes in Obesity-Related Heart Failure with Preserved Ejection Fraction.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.
- Published in:
- Journal of Neuroscience, 2016, v. 38, n. 28, p. 7441, doi. 10.1523/JNEUROSCI.0636-16.2016
- By:
- Publication type:
- Article
A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 21, p. 8091, doi. 10.1523/JNEUROSCI.4173-14.2015
- By:
- Publication type:
- Article
Mechanism-Based Combination Treatment Dramatically Increases Therapeutic Efficacy in Murine Globoid Cell Leukodystrophy.
- Published in:
- Journal of Neuroscience, 2015, p. 6495, doi. 10.1523/JNEUROSCI.4199-14.2015
- By:
- Publication type:
- Article
P3‐253: PLASMA CERAMIDES AND RISK OF DEMENTIA.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P1033, doi. 10.1016/j.jalz.2019.06.3284
- By:
- Publication type:
- Article
Loss of SNORA73 reprograms cellular metabolism and protects against steatohepatitis.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25457-y
- By:
- Publication type:
- Article
Neurologic Abnormalities in Mouse Models of the Lysosomal Storage Disorders Mucolipidosis II and Mucolipidosis III γ.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109768
- By:
- Publication type:
- Article
Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression.
- Published in:
- PLoS ONE, 2009, v. 4, n. 9, p. 1, doi. 10.1371/journal.pone.0006951
- By:
- Publication type:
- Article
A HILIC‐MS/MS method for simultaneous quantification of the lysosomal disease markers galactosylsphingosine and glucosylsphingosine in mouse serum.
- Published in:
- Biomedical Chromatography, 2018, v. 32, n. 7, p. 1, doi. 10.1002/bmc.4235
- By:
- Publication type:
- Article
Author Correction: Loss of SNORA73 reprograms cellular metabolism and protects against steatohepatitis.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease.
- Published in:
- Science Translational Medicine, 2015, v. 7, n. 276, p. 1, doi. 10.1126/scitranslmed.3010101
- By:
- Publication type:
- Article
Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease.
- Published in:
- Science Translational Medicine, 2010, v. 2, n. 56, p. 1, doi. 10.1126/scitranslmed.3001417
- By:
- Publication type:
- Article
Fostering collaborative research for rare genetic disease: the example of niemannpick type C disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0540-x
- By:
- Publication type:
- Article
Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease.
- Published in:
- 2016
- By:
- Publication type:
- letter
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-35
- By:
- Publication type:
- Article
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.
- Published in:
- 2013
- By:
- Publication type:
- journal article
A Diet Rich in Medium-Chain Fatty Acids Improves Systolic Function and Alters the Lipidomic Profile in Patients With Type 2 Diabetes: A Pilot Study.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Plasma Sphingolipids Associated with Chronic Obstructive Pulmonary Disease Phenotypes.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2015, v. 191, n. 3, p. 275, doi. 10.1164/rccm.201410-1771OC
- By:
- Publication type:
- Article
A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1.
- Published in:
- BMC Biology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12915-021-01133-x
- By:
- Publication type:
- Article
Krabbe disease successfully treated via monotherapy of intrathecal gene therapy.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Rpl13a small nucleolar RNAs regulate systemic glucose metabolism.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 326, doi. 10.1002/jimd.12595
- By:
- Publication type:
- Article
Low dose chloroquine decreases insulin resistance in human metabolic syndrome but does not reduce carotid intima-media thickness.
- Published in:
- Diabetology & Metabolic Syndrome, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13098-019-0456-4
- By:
- Publication type:
- Article
Analytical Characterization of Methyl-β-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol Accumulation in Niemann-Pick Disease Type C1 Cells.
- Published in:
- Assay & Drug Development Technologies, 2017, v. 15, n. 4, p. 154, doi. 10.1089/adt.2017.774
- By:
- Publication type:
- Article
Analytical Characterization of Methyl-β-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol Accumulation in Niemann-Pick Disease Type C1 Cells.
- Published in:
- Assay & Drug Development Technologies, 2017, v. 15, n. 4, p. 154, doi. 10.1089/adt.2017.774
- By:
- Publication type:
- Article
Ceramide Remodeling and Risk of Cardiovascular Events and Mortality.
- Published in:
- 2018
- By:
- Publication type:
- journal article
High-content screen for modifiers of Niemann-Pick type C disease in patient cells.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2101, doi. 10.1093/hmg/ddy117
- By:
- Publication type:
- Article
Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 16, p. 3588, doi. 10.1093/hmg/ddw204
- By:
- Publication type:
- Article
Genetic and pharmacological evidence implicates cathepsins in Niemann-Pick C cerebellar degeneration.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 7, p. 1434, doi. 10.1093/hmg/ddw025
- By:
- Publication type:
- Article
Characterization of oxysterols by electrospray ionization tandem mass spectrometry after one-step derivatization with dimethylglycine.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2007, v. 21, n. 2, p. 141, doi. 10.1002/rcm.2820
- By:
- Publication type:
- Article
NPC1 regulates the distribution of phosphatidylinositol 4‐kinases at Golgi and lysosomal membranes.
- Published in:
- EMBO Journal, 2021, v. 40, n. 13, p. 1, doi. 10.15252/embj.2020105990
- By:
- Publication type:
- Article