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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
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f2f8307fc9146a377776a47bc11811f
https://hdl.handle.net/1887/3214386 -
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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: 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: 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: 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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7دورية أكاديمية
المؤلفون: Dimitriou E; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece., Paschali E; Department of Immunology and Histocompatibility Specialized Center & Referral Center for Primary Immunodeficiencies, Paediatric Immunology, 'Aghia Sophia' Children's Hospital, Athens, Greece., Kanariou M; Department of Immunology and Histocompatibility Specialized Center & Referral Center for Primary Immunodeficiencies, Paediatric Immunology, 'Aghia Sophia' Children's Hospital, Athens, Greece., Michelakakis H; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2019 Jun 04; Vol. 20, pp. 100477. Date of Electronic Publication: 2019 Jun 04 (Print Publication: 2019).
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
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8دورية أكاديمية
المؤلفون: Matsuo M; Department of Pediatrics, Saga University, Faculty of Medicine, Saga, Japan., Shraishi K; Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan., Wada K; Research Institute, Nihon Shokuhin Kako Co., Ltd, Japan., Ishitsuka Y; Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan., Doi H; Department of Pediatrics, Saga University, Faculty of Medicine, Saga, Japan., Maeda M; Department of Pharmacology, Saga University, Faculty of Medicine, Saga, Japan., Mizoguchi T; Department of Pediatrics, Saga University, Faculty of Medicine, Saga, Japan., Eto J; Department of Pediatrics, Saga University, Faculty of Medicine, Saga, Japan., Mochinaga S; Department of Pharmacology, Saga University, Faculty of Medicine, Saga, Japan., Arima H; Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan., Irie T; Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan.
المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2014 Sep 17; Vol. 1, pp. 391-400. Date of Electronic Publication: 2014 Sep 17 (Print Publication: 2014).
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
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9دورية أكاديمية
المؤلفون: Tanaka Y; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Ishitsuka Y; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Yamada Y; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Kondo Y; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Takeo T; Division of Reproductive Engineering, Center for Animal Resources and Development (CARD), Kumamoto University, 2-2-1 Honjo Kumamoto 860-0811, Japan., Nakagata N; Division of Reproductive Engineering, Center for Animal Resources and Development (CARD), Kumamoto University, 2-2-1 Honjo Kumamoto 860-0811, Japan., Higashi T; Department of Physical Pharmaceutics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Motoyama K; Department of Physical Pharmaceutics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Arima H; Department of Physical Pharmaceutics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Matsuo M; Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1, Nabeshima, Saga, 849-8501, Saga, Japan., Higaki K; Division of Functional Genomics, Research Center for Bioscience and Technology, Faculty of Medicine, Tottori University, 86 Nishi-cho, Yonago 683-8503, Japan., Ohno K; Department of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, 36-1, Nishi-cho, Yonago, 683-8504, Japan., Irie T; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan.
المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2014 Jan 11; Vol. 1, pp. 19-30. Date of Electronic Publication: 2014 Jan 11 (Print Publication: 2014).
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE