-
1دورية أكاديمية
المؤلفون: Rodriguez-Agudo, Daniel, Malacrida, Leonel, Kakiyama, Genta, Sparrer, Tavis, Fortes, Carolina, Maceyka, Michael, Subler, Mark A, Windle, Jolene J, Gratton, Enrico, Pandak, William M, Gil, Gregorio
المصدر: Journal of Lipid Research. 60(6)
مصطلحات موضوعية: Digestive Diseases, Adaptor Proteins, Vesicular Transport, Animals, CHO Cells, Cell Membrane, Cells, Cultured, Cholesterol, Cricetulus, Endoplasmic Reticulum, Female, Homeostasis, Immunoblotting, Lipid Metabolism, Macrophages, Peritoneal, Mice, Mice, Inbred C57BL, Mice, Knockout, Microscopy, Fluorescence, RNA, Messenger, Triglycerides, cholesterol trafficking, macrophages, endoplasmic reticulum, Niemann-Pick C, fluorescence, steroidogenic acute regulatory protein-related lipid transfer proteins, fatty liver, steroidogenic acute regulatory-related lipid transfer domain 5, Biochemistry and Cell Biology, Medical Biochemistry and Metabolomics, Biochemistry & Molecular Biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0f34d6hdTest
-
2دورية أكاديمية
المؤلفون: Justyna Spiewak, Ivan Doykov, Apostolos Papandreou, Jenny Hällqvist, Philippa Mills, Peter T. Clayton, Paul Gissen, Kevin Mills, Wendy E. Heywood
المصدر: International Journal of Molecular Sciences; Volume 24; Issue 12; Pages: 10177
مصطلحات موضوعية: Fabry disease, glycosphingolipid, biomarker, Gaucher disease, mucopolysaccharidoses, Niemann–Pick C disease, dried blood spot
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms241210177Test
-
3دورية أكاديمية
المؤلفون: Rezvan Abtahi, Parvaneh Karimzadeh, Omid Aryani, Diba Akbarzadeh, Shadab Salehpour, Alireza Rezayi, Seyed Hassan Tonekaboni, Reza Zolfaghari Emameh, Massoud Houshmand
المصدر: Hereditas, Vol 159, Iss 1, Pp 1-11 (2022)
مصطلحات موضوعية: Niemann-Pick C, Molecular Study, New Mutation, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1601-5223Test
-
4دورية أكاديمية
المؤلفون: Xuntian Jiang, Daniel S. Ory
المصدر: Exploration of Neuroprotective Therapy, Vol 1, Iss 3, Pp 146-158 (2021)
مصطلحات موضوعية: niemann-pick c, cholesterol, biomarkers, diagnosis, oxysterol, bile acids, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.explorationpub.com/Journals/ent/Article/100412Test; https://doaj.org/toc/2769-6510Test
-
5دورية أكاديمية
المؤلفون: Mark L. Schultz, Maria V. Fawaz, Ruth D. Azaria, Todd C. Hollon, Elaine A. Liu, Thaddeus J. Kunkel, Troy A. Halseth, Kelsey L. Krus, Ran Ming, Emily E. Morin, Hayley S. McLoughlin, David D. Bushart, Henry L. Paulson, Vikram G. Shakkottai, Daniel A. Orringer, Anna S. Schwendeman, Andrew P. Lieberman
المصدر: BMC Medicine, Vol 17, Iss 1, Pp 1-18 (2019)
مصطلحات موضوعية: Niemann–Pick C, NPC1, HDL, SRS, Niemann–Pick A, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12916-019-1423-5Test; https://doaj.org/toc/1741-7015Test
-
6دورية أكاديمية
المؤلفون: Margaret Reynolds, Laura A. Linneman, Sofia Luna, Barbara B. Warner, Yumirle P. Turmelle, Sakil S. Kulkarni, Xuntian Jiang, Geetika Khanna, Marwan Shinawi, Forbes D. Porter, Daniel S. Ory, F. Sessions Cole, Patricia I. Dickson
المصدر: Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100772- (2021)
مصطلحات موضوعية: Niemann Pick C, Clinical trial, 2-hydroxypropyl-β-cyclodextrin (2HPBCD), 3β,5α,6β-trihydroxy-cholan-24-oyl)glycine (TCG), Cyclodextrin, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426921000665Test; https://doaj.org/toc/2214-4269Test
-
7رسالة جامعية
المؤلفون: Peterneva, Ksenia
المساهمون: Platt, Frances M., Lloyd-Evans, Emyr
مصطلحات موضوعية: 615.3, Biochemistry, Cell Biology (see also Plant sciences), Glycobiology, lysosomal, storage, rare disease, calcium, TRP channel, mucolipidosis type IV, Niemann Pick C
-
8دورية أكاديمية
المؤلفون: Daniel Rodriguez-Agudo, Leonel Malacrida, Genta Kakiyama, Tavis Sparrer, Carolina Fortes, Michael Maceyka, Mark A. Subler, Jolene J. Windle, Enrico Gratton, William M. Pandak, Gregorio Gil
المصدر: Journal of Lipid Research, Vol 60, Iss 6, Pp 1087-1098 (2019)
مصطلحات موضوعية: cholesterol trafficking, macrophages, endoplasmic reticulum, Niemann-Pick C, fluorescence, steroidogenic acute regulatory protein-related lipid transfer proteins, Biochemistry, QD415-436
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S0022227520322495Test; https://doaj.org/toc/0022-2275Test
-
9دورية أكاديمية
المؤلفون: Dardis A., Pavan E., Fabris M., Da Riol R. M., Sechi A., Fiumara A., Santoro L., Ormazabal M., Milanic R., Zampieri S., Biasizzo J., Scarpa M.
المساهمون: Dardis, A., Pavan, E., Fabris, M., Da Riol, R. M., Sechi, A., Fiumara, A., Santoro, L., Ormazabal, M., Milanic, R., Zampieri, S., Biasizzo, J., Scarpa, M.
مصطلحات موضوعية: Biomarker, Neurofilament light, Neurological disease, Niemann–Pick C
وصف الملف: STAMPA
العلاقة: volume:10; issue:20; firstpage:4796; journal:JOURNAL OF CLINICAL MEDICINE; http://hdl.handle.net/11390/1213096Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85117178509
-
10دورية أكاديمية
المؤلفون: Argüello, Graciela, Balboa, Elisa, Tapia, Pablo J., Castro, Juan, Yáñez, María José, Mattar, Pamela, Pulgar Tejo, Rodrigo Enrique, Zanlungo, Silvana
المصدر: International Journal of Molecular Sciences
مصطلحات موضوعية: Niemann–Pick C, TFEB, Genistein, Lysosomal storage diseases, Cholesterol, Lysosome clearance
وصف الملف: application/pdf
العلاقة: Int. J. Mol. Sci. 2021, 22, 4220; https://repositorio.uchile.cl/handle/2250/182847Test
الإتاحة: https://doi.org/10.3390/ijms22084220Test
https://repositorio.uchile.cl/handle/2250/182847Test
النص الكامل