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المؤلفون: Daphne E.C. Boer, Maria J. Ferraz, Rianne Meijer, Kimberley C. Zwiers, Mina Mirzaian, Jonathan C. P. Roos, Johannes M. F. G. Aerts, Navraj S. Pannu, Marc D. Hazeu, Herman S. Overkleeft, Rolf G. Boot, André R. A. Marques, Marta Artola, Roelof Ottenhoff, Merel V. Baks, Timothy M. Cox
المساهمون: Medical Biochemistry, ACS - Atherosclerosis & ischemic syndromes, ACS - Diabetes & metabolism, Amsterdam Gastroenterology Endocrinology Metabolism
المصدر: Journal of Lipid Research, 62. ELSEVIER
Journal of Lipid Research
Journal of Lipid Research, Vol 62, Iss, Pp 100018-(2021)
Journal of lipid research, 62:RA120001043. American Society for Biochemistry and Molecular Biology Inc.مصطلحات موضوعية: 0301 basic medicine, glycolipids, cerebrosides, Gaucher disease, 030204 cardiovascular system & hematology, Biochemistry, law.invention, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, law, UDP-Glc, uridine diphosphate glucose, 4-MU-β-Glc, 4-methylumbelliferyl-β-D-glucose, GCS, glucosylceramide synthase, chemistry.chemical_classification, GlcChol, 1-O-cholesteryl-β-D-glucoside, ATP synthase, biology, GD, Gaucher disease, Uridine diphosphate glucose, Recombinant DNA, Glucosylceramidase, GalChol, galactosylated cholesterol, Research Article, NPC, Niemann-Pick type C disease, Ceramide, 4-MU-β-Xyl, 4-methylumbelliferyl-β-D-xylose, GlcCer, glucosylceramide, inborn errors of metabolism, QD415-436, GalCer, galactosylceramide, NBD C6- ceramide, 6-((N-(7-Nitrobenz-2-Oxa-1,3-Diazol-4-yl)amino)hexanoyl)sphingosine, 03 medical and health sciences, Glycolipid, PDB, Protein Data Bank, UPLC, ultra performance liquid chromatography, CBE, conduritol-β-epoxide (L-1,2-anhydro-myo-inositol), ceramides, GBA, β-glucocerebrosidase, UDP-Xyl, uridine diphosphate xylose, rhGBA, recombinant human GBA, Cell Biology, Metabolism, XylChol, 1-O-cholesteryl-β-D-xylose, 030104 developmental biology, Enzyme, chemistry, XYLOSYLATION, 25-NBD-cholesterol, 25-[N-[(7-nitro-2-1,3-benzoxadiazol-4-yl) methyl] amino]-27-norcholesterol, biology.protein, metabolism, Glucocerebrosidase, XylCer, xylosylceramide
وصف الملف: application/pdf
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المساهمون: Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), French Ministery of educationInstitut National de la Sante et de la Recherche Medicale (Inserm)European CommissionSFD (Societe Francophone du Diabete)AE 2016VML (Vaincre les Maladies Lysosomales)AO2018-6
المصدر: Biochimie
Biochimie, Elsevier, 2020, 179, pp.247-256. ⟨10.1016/j.biochi.2020.10.018⟩مصطلحات موضوعية: 0301 basic medicine, COVID-19, coronavirus disease-19, viruses, [SDV]Life Sciences [q-bio], CoV, coronavirus, MERS, Middle East Respiratory Syndrome, Endocytic cycle, CAD, cationic amphiphilic drug, MVE, multivesicular endosome, medicine.disease_cause, Biochemistry, Homeostasis, BMP, bis(monoacylglycero)phosphate [also known as lysobisphosphatidic acid (LBPA)], LE/Lys, late endosome/lysosome, Late endosome, ComputingMilieux_MISCELLANEOUS, Coronavirus, Chemistry, ILV, intraluminal vesicle, MCS, membrane contact sites, General Medicine, Endocytosis, 3. Good health, Cell biology, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Monoglycerides, NPC, Niemann Pick type C, OSBP, oxysterol binding protein, extracellular vesicles, bis(monoacylglycero)phosphate, VSV, vesicular stomatitis virus, Endosome, CME, clathrin-mediated endocytosis, ACE2, angiotensin-converting enzyme 2, Article, 03 medical and health sciences, ESCRT, endosomal sorting complexes required for transport, oxysterol-binding protein (OSBP)-related proteins ORP, diC22:6-BMP, di-docosahexaenoyl BMP, medicine, Humans, SARS, severe acute respiratory syndrome, Niemann Pick type C disease NPC, OSBP, Unsaturated fatty acid, LSD, lysosomal storage disorder/disease, Host Microbial Interactions, 030102 biochemistry & molecular biology, SARS-CoV-2, cholesterol, ORP, OSBP-related protein, 030104 developmental biology, TMPRSS2, transmembrane serine protease 2, Lysophospholipids, NPC1
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المؤلفون: Susana Nuñez, Thierry Levade, Sandra Torres, Cristina Alarcón-Vila, José C. Fernández-Checa, Pablo M. Garcia-Roves, Josefina Casas, Carlos Enrich, Natalia Nuño, Silvana Zanlungo, Elisa Balboa, Alba Gonzalez-Franquesa, Anna Fernández, Gemma Fabriàs, Anna Baulies, Nuria Matías, Joan Caballería, Laura Martínez, Carmen García-Ruiz
المساهمون: Ministerio de Economía y Competitividad (España), Fundació La Marató de TV3, Fundación Mutua Madrileña, Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red Enfermedades Hepáticas y Digestivas (España), National Institute on Alcohol Abuse and Alcoholism (US), National Institutes of Health (US), Generalitat de Catalunya
المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Redox Biology, Vol 11, Iss, Pp 60-72 (2017)
Redox Biologyمصطلحات موضوعية: 0301 basic medicine, Clinical Biochemistry, Vesicular Transport Proteins, NAC, N-acetylcysteine, Mitochondrial GSH, Mitochondrion, medicine.disease_cause, Biochemistry, Oxidative Phosphorylation, Ceramide, Mice, Purkinje Cells, chemistry.chemical_compound, Cerebellum, lcsh:QH301-705.5, GCS, glucosylceramide synthase, Mice, Knockout, lcsh:R5-920, Sphingolipids, Mitochondrial GSH, Intracellular Signaling Peptides and Proteins, Niemann-Pick Disease, Type C, Lysosomal disorders, Glutathione, Mitochondria, NPC, Niemann Pick type C disease, 3. Good health, Cholesterol, lcsh:Medicine (General), Research Paper, Programmed cell death, medicine.medical_specialty, mGSH, mitochondrial GSH, Oxidative phosphorylation, Biology, 03 medical and health sciences, Niemann-Pick C1 Protein, Internal medicine, medicine, Animals, Humans, Hepatosplenomegaly, Sphingolipids, Organic Chemistry, Proteins, Sphingolipid, Acetylcysteine, 030104 developmental biology, Endocrinology, lcsh:Biology (General), chemistry, Mutation, SMS, sphingomyelin synthase, GSH-EE, GSH ethyl ester, NPC1, Lysosomes, CDX, 2-hydroxypropyl-β-cyclodextrin, Oxidative stress
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المؤلفون: Frédéric Darios, Giovanni Stevanin
المساهمون: Gestionnaire, Hal Sorbonne Université, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Journal of Molecular Biology
Journal of Molecular Biology, 2020, 432 (8), pp.2714-2734. ⟨10.1016/j.jmb.2020.02.033⟩
Journal of Molecular Biology, Elsevier, 2020, 432 (8), pp.2714-2734. ⟨10.1016/j.jmb.2020.02.033⟩مصطلحات موضوعية: autophagy, Endosome, [SDV]Life Sciences [q-bio], CLN, neuronal ceroid lipofuscinose, Lysosomal storage disorders, LSD, lysosomal storage disorder, mTOR, mammalian target of rapamycin, SCA7, spinocerebellar ataxia type 7, Article, 03 medical and health sciences, 0302 clinical medicine, FTLD, frontotemporal lobar degeneration, Structural Biology, trafficking, Lysosome, medicine, Animals, Humans, lysosomal storage diseases, Molecular Biology, 030304 developmental biology, 0303 health sciences, HSP, hereditary spastic paraplegia, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Cell Death, business.industry, Neurodegeneration, Autophagy, NPC, Niemann–Pick type C, Autophagosomes, Neurodegenerative Diseases, ALS, amyotrophic lateral sclerosis, medicine.disease, neuronal death, 3. Good health, [SDV] Life Sciences [q-bio], medicine.anatomical_structure, Lysosomes, business, signaling, Neuroscience, Metabolic Networks and Pathways, 030217 neurology & neurosurgery, Function (biology), [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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المؤلفون: Dominik Schwudke, Christopher J. H. Elliott, Sean T. Sweeney, Samantha Hindle, Sarita Hebbar
المصدر: Neurobiology of Disease, Vol 98, Iss, Pp 77-87 (2017)
Neurobiology of Diseaseمصطلحات موضوعية: 0301 basic medicine, Aging, Lysosomal Storage Diseases, Nervous System, Cellular pathology, Prosaposin deficiency, Mutant, Lysosomal storage disease, Antiporters, Saposins, Animals, Genetically Modified, 0302 clinical medicine, Sphingosine, Drosophila Proteins, Homeostasis, GFP, green fluorescent protein, Neurons, Brain, Neurodegenerative Diseases, ERG, electroretinograms, 3. Good health, Cell biology, Drosophila melanogaster, Phenotype, PSAP, prosaposin, Neurology, HSAN1, hereditary sensory and autonomic neuropathy type 1, MVB, multivesicular body, MLB, multilamellar body, Saposin, Drosophila, Neuroglia, chemistry.chemical_element, Sensory system, Progressive neurodegeneration, Calcium, Biology, Ceramides, Article, lcsh:RC321-571, 03 medical and health sciences, Animals, LSD, lysosomal storage disease, NPC, Niemann-Pick type C, Neurodegeneration, TEM, transmission electron microscopy, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Calcium metabolism, Sphingolipids, Activator (genetics), RT-PCR, reverse transcription PCR, Survival Analysis, Sphingolipid, Disease Models, Animal, 030104 developmental biology, chemistry, 030217 neurology & neurosurgery
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المؤلفون: Griffiths, William J., Hearn, Thomas, Crick, Peter J., Abdel-Khalik, Jonas, Dickson, Alison, Yutuc, Eylan, Wang, Yuqin
المصدر: Chemistry and Physics of Lipids
مصطلحات موضوعية: 7-OC, 7-oxocholesterol, MSn, MS with multistage fragmentation, HSD, hydroxysteroid dehydrogenase, 3β,7α-diHCA(25R), 3β,7α-dihydroxycholest-5-en-(25R)26-oic acid, Molecular Conformation, 7α-HC, 7α-hydroxycholesterol, 3β,7β-diHCA(25S), 3β,7β-dihydroxycholest-5-en-(25S)26-oic acid, Mass Spectrometry, 3β,7α-diHCA(25S), 3β,7α-dihydroxycholest-5-en-(25S)26-oic acid, 25-HC, 25-hydroxycholesterol, CTX, cerebrotendinous xanthomatosis, LIT, linear ion trap, 7αH,3O-CA(25S), 7α-hydroxy-3-oxocholest-4-en-(25S)26-oic acid, LC, liquid chromatography, Stereoisomerism, Oxysterols, 7αH,3O-Δ4-BA, 7α-hydroxy-3-oxochol-4-enoic acid, EADSA, enzyme-assisted derivatisation for steroid analysis, CYP, cytochrome P450, NPC, Niemann Pick type C, 7αH,3O-CA(25R), 7α-hydroxy-3-oxocholest-4-en-(25R)26-oic acid, GC, gas chromatography, Oxidoreductases, 3β,7β-diHCA(25R), 3β,7β-dihydroxycholest-5-en-(25R)26-oic acid, AMACR, alphamethylacyl-CoA racemase, Hydroxycholesterol, Article, 24R-HC, 24R-hydroxycholesterol, Cholestenoic acid, Epimer, 3β,7α-diH-Δ5-BA, 3β,7α-dihydroxychol-5-enoic acid, ACOX2, acyl-coenzyme A oxidase 2, Humans, ComputingMethodologies_COMPUTERGRAPHICS, Sterol, SRM, standard reference material, (25R)26-HC, (25R)26-hydroxycholesterol, Cholestenes, 7β-HC, 7β-hydroxycholesterol, Cholic Acids, RIC, reconstructed ion chromatogram, 7α-HCO, 7α-hydroxycholest-4-en-3-one, MS, mass spectrometry, ESI, electrospray ionisation, SLOS, Smith-Lemli-Opitz syndrome, 24S-HC, 24S-hydroxycholesterol, 3β,7β-diH-Δ 5-BA, 3β,7β-dihydroxychol-5-enoic acid, GP, Girard P reagent, Derivatisation, MRM, multiple reaction monitoring, Chromatography, Liquid
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المؤلفون: Tadeja Režen, Damjana Rozman, Eva Kočar
المصدر: Biochimica et Biophysica Acta. Molecular and Cell Biology of Lipids
Biochimica et Biophysica Acta (BBA)-Molecular and Cell Biology of Lipidsمصطلحات موضوعية: 0301 basic medicine, NPC, Niemann-Pick type C disease, PON1, paraoxonase 1, Lipoproteins, CoV, coronavirus, High density lipoprotein, LDL-cholesterol, low-density lipoprotein cholesterol, Low density lipoprotein, Review, 030204 cardiovascular system & hematology, Pharmacology, Endocytosis, ACE2, angiotensin-converting enzyme 2, FH, familial hypercholesterolemia, CoVs, coronaviruses, 03 medical and health sciences, chemistry.chemical_compound, HEK, human embryonic kidney, 0302 clinical medicine, High-density lipoprotein, MERS-CoV, Middle East Respiratory Syndrome Coronavirus, Viral entry, Humans, SARS-CoV, Severe Acute Respiratory Syndrome Coronavirus, Receptor, Molecular Biology, Lipid raft, Cholesterol, SARS-CoV-2, Statins, COVID-19, Lipid metabolism, Cell Biology, Lipid Metabolism, TC, total cholesterol, HDL-cholesterol, high-density lipoprotein cholesterol, 030104 developmental biology, SARS-CoV-2, Severe Acute Respiratory Syndrome Coronavirus 2, chemistry, NASH, steatohepatitis, Low-density lipoprotein, HCV, hepatitis C virus, COVID-19, The Corona Virus Disease 2019, lipids (amino acids, peptides, and proteins), NAFLD, nonalcoholic fatty liver disease, SR-B1, scavenger receptor class B type 1, ApoA1, apolipoprotein A1, Metabolic Networks and Pathways
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المؤلفون: E. Dimitriou, Helen Michelakakis, Maria Kanariou, Evangelia Paschali
المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 20, Iss, Pp-(2019)مصطلحات موضوعية: Jo-1, Histidyl-tRNA synthetase antigen, rib-P-Protein, Ribosomal P protein, Sanfilippo B syndrome, RNP, ribonucleoprotein, Immunoglobulins, Autoimmunity, AMA-M2, antimitochondrial antibodies to M2 antigen, Gaucher disease, medicine.disease_cause, Scl-70, Scleroderma-70, Endocrinology, Immune system, Antigen, Miglustat, Genetics, medicine, Niemann pick type C disease, Sm, Smith antigen (B,B′,D,E,F,G proteins), lcsh:QH301-705.5, Molecular Biology, Autoimmune disease, lcsh:R5-920, biology, business.industry, LSDs, Lysosomal storage diseases, SFB, Sanfilippo B syndrome, Autoantibody, GD, Gaucher disease, SS-B, Sjögren's syndrome antigen B, SS-A, Sjögren's antigen A, medicine.disease, NPC, Niemann Pick type C disease, Ku:Ku antigen(p70/p80)CENP A,B,C, Centromere proteins A,B,C, lcsh:Biology (General), PM-Scl-70, Polymyositis - Scleroderma-70, Immunology, biology.protein, AGSA, Antiganglioside antibodies, Antibody, lcsh:Medicine (General), business, Antiganglioside antibodies, medicine.drug, Research Paper
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المؤلفون: Joerg Neddens, Stefanie Flunkert, Birgit Hutter-Paier, Tina Loeffler, Estibaliz Santiago-Mujica, Roland Rabl
المصدر: Heliyon
Heliyon, Vol 5, Iss 3, Pp e01293-(2019)مصطلحات موضوعية: 0301 basic medicine, Cell biology, Cerebellum, medicine.medical_specialty, Molecular biology, Physiology, Central nervous system, AST, aspartate aminotransferase, CNS, central nervous system, AAALAC, Association for Assessment and Accreditation of Laboratory Animal Care, Calbindin, Article, 03 medical and health sciences, 0302 clinical medicine, KC, keratinocyte chemoattractant, ALT, alanine aminotransferase, Internal medicine, medicine, WT, wildtype, NPC, Niemann-Pick type C, lcsh:Social sciences (General), lcsh:Science (General), IFN-γ, Interferon-gamma, Multidisciplinary, AOI, Area of interest, Glial fibrillary acidic protein, biology, TNF-α, tumor necrosis factor-alpha, Wild type, Phenotype, AP, alkaline phosphatase, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, CD45, cluster of differentiation 45, DAPI, 4′,6-Diamidin-2-phenylindol, MAP2, microtubuli-associated protein 2, IL-10/12, Interleukin-10/12, biology.protein, APP, Amyloid Precursor Protein, lcsh:H1-99, Astrocytosis, ANOVA, Analysis of variance, NPC1, GFAP, Glial fibrillary acidic protein, 030217 neurology & neurosurgery, lcsh:Q1-390, Neuroscience
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المؤلفون: Hidetoshi Arima, Toru Takeo, Keiichi Motoyama, Taishi Higashi, Tetsumi Irie, Kousaku Ohno, Muneaki Matsuo, Naomi Nakagata, Katsumi Higaki, Yoichi Ishitsuka, Yuta Tanaka, Yusei Yamada, Yuki Kondo
المصدر: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 19-30 (2014)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Hydroxypropyl-β-cyclodextrin, Lysosomal storage disease, HPBCD, Hydroxypropyl-β-cyclodextrin, Pharmacology, Biology, CHO, Chinese hamster ovary, chemistry.chemical_compound, U18666A, Endocrinology, hemic and lymphatic diseases, NPC, Niemann–Pick Type C disease, Genetics, medicine, Cytotoxicity, Molecular Biology, lcsh:QH301-705.5, Autosomal recessive disorder, Creatinine, Niemann–Pick Type C, lcsh:R5-920, Chinese hamster ovary cell, ALT, Alanine aminotransferase, nutritional and metabolic diseases, Npc1-deficient mice, medicine.disease, Acute toxicity, Pathophysiology, nervous system diseases, chemistry, lcsh:Biology (General), Immunology, Toxicity, lipids (amino acids, peptides, and proteins), NPC1, lcsh:Medicine (General), Research Paper
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المؤلفون: Tatsuhiro Mizoguchi, Koki Wada, Sakiko Mochinaga, Miyuki Maeda, Hirohito Doi, Yoichi Ishitsuka, Koki Shraishi, Muneaki Matsuo, Hidetoshi Arima, Junya Eto, Tetsumi Irie
المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 391-400 (2014)مصطلحات موضوعية: medicine.medical_specialty, Creatine, CSF, cerebrospinal fluid, MRS, nuclear magnetic resonance spectroscopy, PET, positron emission tomography, chemistry.chemical_compound, Endocrinology, Cerebrospinal fluid, Pharmacokinetics, Cr, creatine, Internal medicine, NPC, Niemann–Pick Type C disease, Genetics, medicine, Cyclodextrin, Distribution (pharmacology), Niemann–Pick Type C disease, Adverse effect, lcsh:QH301-705.5, Molecular Biology, Cho, choline, lcsh:R5-920, HPB-CD, 2-hydroxypropyl-β-cyclodextrin, medicine.diagnostic_test, business.industry, Cholesterol, In vitro, CD, cyclodextrin, The Lysosome, lcsh:Biology (General), chemistry, Positron emission tomography, lcsh:Medicine (General), business, NAA, N-acetylaspartate, Intrathecal administration, Intracerebroventricular administration
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المصدر: Neurobiology of Disease
Neurobiology of Disease, Vol 45, Iss 3, Pp 1086-1100 (2012)مصطلحات موضوعية: Pathology, CPu, Caudate putamen, Rt, Reticular nucleus, V1, primary visual cortex, Axonal spheroids, Synapse, R-SNARE Proteins, Mice, 0302 clinical medicine, Thalamus, hemic and lymphatic diseases, Neural Pathways, Lysosomal storage disease, Cognitive decline, Neuropathology, MGN, medial geniculate nucleus, Cerebral Cortex, Mice, Knockout, Neurons, Niemann-Pick Diseases, 0303 health sciences, Mice, Inbred BALB C, S1BF, somatosensory barrelfield cortex, Glutamate Decarboxylase, Neurodegeneration, Age Factors, Intracellular Signaling Peptides and Proteins, LEnt, lateral entorhinal cortex, Au1, primary auditory cortex, medicine.anatomical_structure, Neurology, Cerebral cortex, VPM/VPL, ventral posterior nucleus, Cortex, Disease Progression, Neuroglia, Microglia, medicine.medical_specialty, SNAP-25, Synaptosomal-associated protein of 25 kDa, Nerve Tissue Proteins, Biology, SNr, substantia nigra reticularis, Article, lcsh:RC321-571, LGNd, dorsal lateral geniculate nucleus, 03 medical and health sciences, Antigens, CD, Niemann-Pick C1 Protein, medicine, Animals, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, 030304 developmental biology, M1, primary motor cortex, Analysis of Variance, Niemann–Pick type C, GFAP, glial fibrillary acidic protein, NPC, Niemann–Pick type C, nutritional and metabolic diseases, Proteins, medicine.disease, Axons, Disease Models, Animal, Gene Expression Regulation, Astrocytes, VAMP2, Vesicle associated membrane protein 2, Synapses, LSDs, Lysosomal storage disorders, NPC1, Neuroscience, 030217 neurology & neurosurgery
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المؤلفون: Faye Borthwick, Annette Graham, Janice M.W. Taylor, Anne-Marie Allen
المساهمون: Biological and Biomedical Sciences, Glasgow Caledonian University (GCU)
المصدر: Clinical Science
Clinical Science, Portland Press, 2010, 119 (7), pp.265-272. ⟨10.1042/CS20100266⟩
Clinical Science (London, England : 1979)مصطلحات موضوعية: steroidogenic acute regulatory protein-related lipid transfer domain 3/metastatic lymph node 64 (STARD3/MLN64), Polymerase Chain Reaction, Monocytes, MENTAL domain, MLN64 N-terminal domain, StAR, steroidogenic acute regulatory protein, chemistry.chemical_compound, 0302 clinical medicine, LDL, low-density lipoprotein, apo, apolipoprotein, Q-PCR, quantitative real-time PCR, Aorta, Cells, Cultured, lipid transport, 0303 health sciences, AcLDL, acetylated LDL, biology, ABC, ATP-binding cassette, Steroidogenic acute regulatory protein, Reverse cholesterol transport, General Medicine, S10, Cell biology, Phenotype, GAPDH, glyceraldehyde-3-phosphate dehydrogenase, 030220 oncology & carcinogenesis, Cholesteryl ester, CYP, cytochrome P450, Medicine, lipids (amino acids, peptides, and proteins), SREBP, sterol-regulatory-element-binding protein, medicine.medical_specialty, HDL, high-density lipoprotein, macrophage foam cell, S7, STARD3, Accelerated Publication, MLN64, metastatic lymph node 64, ACAT, acyl-CoA:cholesterol acyltransferase, ER, endoplasmic reticulum, 03 medical and health sciences, Internal medicine, medicine, Humans, RNA, Messenger, 030304 developmental biology, Cholesterol, Macrophages, NPC, Niemann–Pick type C, Membrane Proteins, Lipid metabolism, START, StAR-related lipid transfer, Atherosclerosis, Lipid Metabolism, STARD, START domain, Endocrinology, Gene Expression Regulation, chemistry, ABCA1, CHO, Chinese-hamster ovary, biology.protein, LXR, liver X receptor, Carrier Proteins, cholesterol efflux, Foam Cells, Lipoprotein
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المؤلفون: Daniel S. Ory, Xuntian Jiang
المصدر: EBioMedicine
EBioMedicine, Vol 4, Iss C, Pp 18-19 (2016)مصطلحات موضوعية: 0301 basic medicine, Oncology, Pathology, Vesicular Transport Proteins, lcsh:Medicine, 0302 clinical medicine, Biomarker discovery, education.field_of_study, lcsh:R5-920, Niemann Pick type C, Membrane Glycoproteins, Intracellular Signaling Peptides and Proteins, Niemann-Pick Disease, Type C, Oxysterols, General Medicine, Diagnostic test, 7-KC, 7-ketocholesterol, EVS, exome variant server, Sphingomyelin Phosphodiesterase, 030220 oncology & carcinogenesis, NPC, Niemann Pick type C, Biomarker (medicine), Cholesterol storage, lcsh:Medicine (General), Research Paper, medicine.medical_specialty, Cholestantriol, Population, c-triol/cholestantriol, cholestane-3β,5α,6β-triol, Lysosomal acid lipase deficiency, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Niemann-Pick C1 Protein, Internal medicine, medicine, Humans, CESD, cholesterol ester storage disease, education, Glycoproteins, Newborn screening, Niemann–Pick disease, type C, business.industry, lcsh:R, medicine.disease, 030104 developmental biology, Commentary, ROC, receiver-operating-characteristic, NPC1, HGMD, Human Gene Mutation Database, business, Carrier Proteins, Biomarkers, Cholestanols