Found: 64
Select item for more details and to access through your institution.
Chemoenzymatic Synthesis of a Phosphorylated Glycoprotein.
- Published in:
- Angewandte Chemie, 2016, v. 128, n. 16, p. 5142, doi. 10.1002/ange.201600817
- By:
- Publication type:
- Article
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Autophagy Induction and Autophagosome Clearance in Neurons: Relationship to Autophagic Pathology in Alzheimer's Disease.
- Published in:
- Journal of Neuroscience, 2008, v. 28, n. 27, p. 6926, doi. 10.1523/JNEUROSCI.0800-08.2008
- By:
- Publication type:
- Article
Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides.
- Published in:
- FASEB Journal, 2017, v. 31, n. 8, p. 3467, doi. 10.1096/fj.201601299R
- By:
- 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
- By:
- Publication type:
- Article
Immune dysfunction in Niemann-Pick disease type C.
- Published in:
- Journal of Neurochemistry, 2016, v. 136, p. 74, doi. 10.1111/jnc.13138
- By:
- Publication type:
- Article
Restricted ketogenic diet enhances the therapeutic action of N-butyldeoxynojirimycin towards brain GM2 accumulation in adult Sandhoff disease mice.
- Published in:
- Journal of Neurochemistry, 2010, v. 113, n. 6, p. 1525, doi. 10.1111/j.1471-4159.2010.06733.x
- By:
- Publication type:
- Article
The sensitivity of murine spermiogenesis to miglustat is a quantitative trait: a pharmacogenetic study.
- Published in:
- Reproductive Biology & Endocrinology, 2007, v. 5, p. 1, doi. 10.1186/1477-7827-5-1
- By:
- Publication type:
- Article
GM1 ganglioside-independent intoxication by Cholera toxin.
- Published in:
- PLoS Pathogens, 2018, v. 14, n. 2, p. 1, doi. 10.1371/journal.ppat.1006862
- By:
- Publication type:
- Article
TLR9-mediated dendritic cell activation uncovers mammalian ganglioside species with specific ceramide backbones that activate invariant natural killer T cells.
- Published in:
- PLoS Biology, 2019, v. 17, n. 3, p. 1, doi. 10.1371/journal.pbio.3000169
- By:
- Publication type:
- Article
Heat shock protein–based therapy as a potential candidate for treating the sphingolipidoses.
- Published in:
- Science Translational Medicine, 2016, v. 8, n. 355, p. 1, doi. 10.1126/scitranslmed.aad9823
- By:
- Publication type:
- Article
Correction: Molecular basis for a new bovine model of Niemann-Pick type C disease.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
Front Cover: Synthesis and Study of Multifunctional Cyclodextrin–Deferasirox Hybrids (ChemMedChem 16/2019).
- Published in:
- ChemMedChem, 2019, v. 14, n. 16, p. 1466, doi. 10.1002/cmdc.201900454
- By:
- Publication type:
- Article
Synthesis and Study of Multifunctional Cyclodextrin–Deferasirox Hybrids.
- Published in:
- ChemMedChem, 2019, v. 14, n. 16, p. 1484, doi. 10.1002/cmdc.201900454
- By:
- Publication type:
- Article
The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann–Pick disease type C.
- Published in:
- Biochemical Society Transactions, 2023, v. 51, n. 5, p. 1777, doi. 10.1042/BST20220711
- By:
- Publication type:
- Article
A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 4915, doi. 10.3390/ijms24054915
- By:
- Publication type:
- Article
Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 7, p. 2533, doi. 10.3390/ijms21072533
- By:
- Publication type:
- Article
Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 2, p. 625, doi. 10.3390/ijms19020625
- By:
- Publication type:
- Article
Glycosphingolipid synthesis requires FAPP2 transfer of glucosylceramide.
- Published in:
- Nature, 2007, v. 449, n. 7158, p. 62, doi. 10.1038/nature06097
- By:
- Publication type:
- Article
Upregulating β-hexosaminidase activity in rodents prevents α-synuclein lipid associations and protects dopaminergic neurons from α-synuclein-mediated neurotoxicity.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-01004-6
- By:
- Publication type:
- Article
Miglustat: A Viewpoint by Frances M. Platt and Terry D. Butters.
- Published in:
- Drugs, 2003, v. 63, n. 22, p. 2425
- By:
- Publication type:
- Article
Combined Anti-inflammatory and Neuroprotective Treatments Have the Potential to Impact Disease Phenotypes in Cln3 <sup>−/−</sup> Mice.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00963
- By:
- Publication type:
- Article
Chemoenzymatic Synthesis of a Phosphorylated Glycoprotein.
- Published in:
- Angewandte Chemie International Edition, 2016, v. 55, n. 16, p. 5058, doi. 10.1002/anie.201600817
- By:
- Publication type:
- Article
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.
- Published in:
- Nature Genetics, 2004, v. 36, n. 11, p. 1225, doi. 10.1038/ng1460
- By:
- Publication type:
- Article
N -butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis.
- Published in:
- Journal of Neurochemistry, 2004, v. 89, n. 3, p. 645, doi. 10.1046/j.1471-4159.2004.02381.x
- By:
- Publication type:
- Article
Inhibition of Glycosphingolipid Biosynthesis Does Not Impair Growth or Morphogenesis of the Postimplantation Mouse Embryo.
- Published in:
- Journal of Neurochemistry, 1998, v. 70, n. 2, p. 871, doi. 10.1046/j.1471-4159.1998.70020871.x
- By:
- Publication type:
- Article
Cholera intoxication of human enteroids reveals interplay between decoy and functional glycoconjugate ligands.
- Published in:
- Glycobiology, 2023, v. 33, n. 10, p. 801, doi. 10.1093/glycob/cwad069
- By:
- Publication type:
- Article
Intracellular sphingosine releases calcium from lysosomes.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.10616
- By:
- Publication type:
- Article
GM1 Gangliosidosis—A Mini-Review.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.734878
- By:
- Publication type:
- Article
The Yeast P5 Type ATPase, Spf1, Regulates Manganese Transport into the Endoplasmic Reticulum.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0085519
- By:
- Publication type:
- Article
Neural Stem Cell Transplantation Benefits a Monogenic Neurometabolic Disorder During the Symptomatic Phase of Disease.
- Published in:
- Stem Cells, 2009, v. 27, n. 9, p. 2362, doi. 10.1002/stem.163
- By:
- Publication type:
- Article
Sphingolipid lysosomal storage disorders.
- Published in:
- Nature, 2014, v. 510, n. 7503, p. 68, doi. 10.1038/nature13476
- By:
- Publication type:
- Article
Vesicular and non-vesicular transport feed distinct glycosylation pathways in the Golgi.
- Published in:
- Nature, 2013, v. 501, n. 7465, p. 116, doi. 10.1038/nature12423
- By:
- Publication type:
- Article
Lipids on Trial: The Search for the Offending Metabolite in Niemann-Pick type C Disease.
- Published in:
- Traffic, 2010, v. 11, n. 4, p. 419, doi. 10.1111/j.1600-0854.2010.01032.x
- By:
- Publication type:
- Article
A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency.
- Published in:
- Scientific Reports, 2017, p. 41408, doi. 10.1038/srep41408
- By:
- Publication type:
- Article
Inhibition of the Niemann-Pick C1 protein is a conserved feature of multiple strains of pathogenic mycobacteria.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32553-0
- By:
- Publication type:
- Article
Molecular basis for a new bovine model of Niemann-Pick type C disease.
- Published in:
- PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0238697
- By:
- Publication type:
- Article
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
Invariant NKT cells reduce the immunosuppressive activity of influenza A virus-induced myeloid-derived suppressor cells in mice and humans.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Mechanistic convergence and shared therapeutic targets in Niemann‐Pick disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 574, doi. 10.1002/jimd.12191
- By:
- Publication type:
- Article
Glycosphingolipid metabolism and its role in ageing and Parkinson's disease.
- Published in:
- Glycoconjugate Journal, 2022, v. 39, n. 1, p. 39, doi. 10.1007/s10719-021-10023-x
- By:
- Publication type:
- Article
Drug‐induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann–Pick type C cells and mice.
- Published in:
- EMBO Reports, 2019, v. 20, n. 7, p. N.PAG, doi. 10.15252/embr.201847055
- By:
- Publication type:
- Article
CD1d presentation of glycolipids.
- Published in:
- Immunology & Cell Biology, 2008, v. 86, n. 7, p. 588, doi. 10.1038/icb.2008.42
- By:
- Publication type:
- Article
Acetylation turns leucine into a drug by membrane transporter switching.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-95255-5
- By:
- Publication type:
- Article
Substrate reduction therapy.
- Published in:
- Acta Paediatrica, 2008, p. 88, doi. 10.1111/j.1651-2227.2008.00656.x
- By:
- Publication type:
- Article
Correction to: Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson's disease.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson's disease.
- Published in:
- Molecular Neurodegeneration, 2019, v. 14, n. 1, p. N.PAG, doi. 10.1186/s13024-019-0339-z
- By:
- Publication type:
- Article
Defective platelet function in Niemann‐Pick disease type C1.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 46, doi. 10.1002/jmd2.12148
- By:
- Publication type:
- Article
Silencing the porcine iGb3s gene does not affect Gal α3Gal levels or measures of anticipated pig-to-human and pig-to-primate acute rejection.
- Published in:
- Xenotransplantation, 2016, v. 23, n. 2, p. 106, doi. 10.1111/xen.12217
- By:
- Publication type:
- Article