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Correction: Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1.
- Published in:
- 2018
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- Publication type:
- Correction Notice
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
- Published in:
- FEBS Letters, 2016, v. 590, n. 11, p. 1651, doi. 10.1002/1873-3468.12196
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- Publication type:
- Article
FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts.
- Published in:
- FASEB Journal, 2017, v. 31, n. 4, p. 1719, doi. 10.1096/fj.201601041R
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- Publication type:
- Article
Oxidative phosphorylation in creatine transporter deficiency.
- Published in:
- NMR in Biomedicine, 2021, v. 34, n. 1, p. 1, doi. 10.1002/nbm.4419
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- Publication type:
- Article
Differential Proteomics Reveals miR-155 as a Novel Indicator of Liver and Spleen Pathology in the Symptomatic Niemann-Pick Disease, Type C1 Mouse Model.
- Published in:
- Molecules, 2019, v. 24, n. 5, p. 994, doi. 10.3390/molecules24050994
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- Publication type:
- Article
Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-021-01580-8
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- Publication type:
- 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
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- 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
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- 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
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- Publication type:
- Article
Activation of Rho GTPases in Smith–Lemli–Opitz syndrome: pathophysiological and clinical implications.
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- Human Molecular Genetics, 2010, v. 19, n. 7, p. 1347, doi. 10.1093/hmg/ddq011
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- Publication type:
- Article
Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith–Lemli–Opitz syndrome.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3806, doi. 10.1093/hmg/ddn278
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- Publication type:
- Article
HEM dysplasia and ichthyosis are likely laminopathies and not due to 3β-hydroxysterol Δ14-reductase deficiency.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 10, p. 1176, doi. 10.1093/hmg/ddm065
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- Publication type:
- Article
Development and characterization of a hypomorphic Smith–Lemli–Opitz syndrome mouse model and efficacy of simvastatin therapy.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 6, p. 839, doi. 10.1093/hmg/ddl003
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- 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
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- 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
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- Publication type:
- Article
Complex N-Linked Glycosylation: A Potential Modifier of Niemann–Pick Disease, Type C1 Pathology.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 9, p. 5082, doi. 10.3390/ijms23095082
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- Publication type:
- Article
Single Cell Transcriptome Analysis of Niemann–Pick Disease, Type C1 Cerebella.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 15, p. 5368, doi. 10.3390/ijms21155368
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- Publication type:
- Article
Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann–Pick Disease, Type C1.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 7, p. 2430, doi. 10.3390/ijms21072430
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- Publication type:
- Article
Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 1, p. 292, doi. 10.3390/ijms21010292
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- Publication type:
- Article
A differential proteomics study of cerebrospinal fluid from individuals with Niemann‐Pick disease, Type C1.
- Published in:
- Proteomics, 2023, v. 23, n. 11, p. 1, doi. 10.1002/pmic.202200378
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- Publication type:
- Article
Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 5, p. 535, doi. 10.1038/ejhg.2008.10
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- Publication type:
- Article
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis.
- Published in:
- Nature Genetics, 2003, v. 33, n. 4, p. 508, doi. 10.1038/ng1134
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- Publication type:
- Article
Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 8, p. 4217, doi. 10.3390/ijms25084217
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- Publication type:
- Article
Síndrome de Smith-Lemli-Opitz y trastorno del espectro autista.
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- American Journal of Psychiatry - Edición Española, 2008, v. 11, n. 2, p. 87
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- Publication type:
- Article
Modeling SARS-CoV-2 and influenza infections and antiviral treatments in human lung epithelial tissue equivalents.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03753-7
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- Publication type:
- Article
Disruption of Dhcr7 and Insig1/2 in cholesterol metabolism causes defects in bone formation and homeostasis through primary cilium formation.
- Published in:
- Bone Research, 2020, v. 8, n. 1, p. 1, doi. 10.1038/s41413-019-0078-3
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- Publication type:
- Article
Intracellular sphingosine releases calcium from lysosomes.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.10616
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- Publication type:
- Article
Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1.
- Published in:
- Biomarker Research, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40364-023-00448-x
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- Publication type:
- Article
Glycerophosphoinositol is Elevated in Blood Samples From CLN3 Δex7-8 pigs, Cln3 Δex7-8 Mice, and CLN3-Affected Individuals.
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- Biomarker Insights, 2022, v. 17, p. 1, doi. 10.1177/11772719221107765
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- Publication type:
- Article
Glycerophosphoinositol is Elevated in Blood Samples From CLN3<sup>Δex7-8</sup> pigs, Cln<sup>3Δex7-8</sup> Mice, and CLN3-Affected Individuals.
- Published in:
- Biomarker Insights, 2022, v. 17, p. 1, doi. 10.1177/11772719221107765
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- Publication type:
- Article
Increased cerebrospinal fluid amyloid β levels in Niemann-Pick disease patients: Implications for Alzheimer's disease
- Published in:
- 2010
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- Publication type:
- Abstract
Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann- Pick disease type C.
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- European Journal of Immunology, 2012, v. 42, n. 7, p. 1886, doi. 10.1002/eji.201141821
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- Publication type:
- Article
Quantitative Proteomic Analysis of Niemann-Pick Disease, Type C1 Cerebellum Identifies Protein Biomarkers and Provides Pathological Insight.
- Published in:
- PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0047845
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- Publication type:
- Article
Warburg Effect's Manifestation in Aggressive Pheochromocytomas and Paragangliomas: Insights from a Mouse Cell Model Applied to Human Tumor Tissue.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0040949
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- Publication type:
- Article
Swallowing characterization of adult-onset Niemann-Pick, type C1 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03241-7
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- 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
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- Publication type:
- Article
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
- Published in:
- 2020
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- Publication type:
- journal 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
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- 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
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0274-1
- By:
- Publication type:
- Article
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Cholesterol Biosynthesis and Trafficking in Cortisol-Producing Lesions of the Adrenal Cortex.
- Published in:
- 2015
- By:
- Publication type:
- journal 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
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- Publication type:
- Article
Cholesterol precursors and facial clefting.
- Published in:
- 2006
- 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
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- Publication type:
- Article
Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 1013, doi. 10.1002/jimd.12366
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- Publication type:
- Article
Mechanistic convergence and shared therapeutic targets in Niemann‐Pick disease.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 574, doi. 10.1002/jimd.12191
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- Publication type:
- Article
Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IV.
- Published in:
- EMBO Reports, 2016, v. 17, n. 2, p. 266, doi. 10.15252/embr.201541542
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- Publication type:
- Article
Association of Miglustat With Swallowing Outcomes in Niemann-Pick Disease, Type C1.
- Published in:
- JAMA Neurology, 2020, v. 77, n. 12, p. 1564, doi. 10.1001/jamaneurol.2020.3241
- By:
- Publication type:
- Article
Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1.
- Published in:
- PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0175478
- By:
- Publication type:
- Article