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المؤلفون: Maik Liedtke, Christin Völkner, Alexandra V. Jürs, Franziska Peter, Michael Rabenstein, Andreas Hermann, Moritz J. Frech
المصدر: International journal of molecular sciences 22(8), 4009-(2021). doi:10.3390/ijms22084009
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 4009, p 4009 (2021)مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, autophagy, pathology [Niemann-Pick Disease, Type C], Induced Pluripotent Stem Cells, Vesicular Transport Proteins, genetics [Mutation], patch clamp, Article, hiPSC, Antioxidants, lcsh:Chemistry, Niemann-Pick type C2 (NP-C2), genetics [Vesicular Transport Proteins], hemic and lymphatic diseases, Autophagy, pathology [Neurons], oxidative stress, Humans, metabolism [Reactive Oxygen Species], physiopathology [Niemann-Pick Disease, Type C], lcsh:QH301-705.5, metabolism [Neuroglia], Neurons, nutritional and metabolic diseases, cholesterol, Cell Differentiation, Niemann-Pick Disease, Type C, metabolism [Cholesterol], pathology [Induced Pluripotent Stem Cells], NPC2 protein, human, metabolism [Induced Pluripotent Stem Cells], filipin, Oxidative Stress, Cholesterol, HEK293 Cells, lcsh:Biology (General), lcsh:QD1-999, ddc:540, Mutation, metabolism [Antioxidants], Reactive Oxygen Species, Neuroglia
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المؤلفون: Völkner, Christin, Liedtke, Maik, Hermann, Andreas, Frech, Moritz J.
المصدر: International journal of molecular sciences 22(2), 710-(2021). doi:10.3390/ijms22020710
International Journal of Molecular Sciencesمصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, induced pluripotent stem cells, pathology [Niemann-Pick Disease, Type C], methods [Drug Discovery], iPSCs, genetics [Mutation], Review, Models, Biological, lysosomal storage disorders, genetics [Niemann-Pick Disease, Type C], hemic and lymphatic diseases, Drug Discovery, Animals, Humans, patient-specific iPSCs, neurodegeneration, nutritional and metabolic diseases, pathology [Hepatocytes], cholesterol, Niemann-Pick Disease, Type C, pathology [Induced Pluripotent Stem Cells], NPC2, NPC1, Mutation, ddc:540, Hepatocytes, lipids (amino acids, peptides, and proteins)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d7b29fb08b32ff59888b7b884fedd70f
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المؤلفون: Moritz J. Frech, Jan Lukas, Maik Liedtke, Hugo Murua Escobar, Saskia Krohn, Chiara Cimmaruta, Franziska Peter, Christin Völkner, Iris Lindner, Andreas Hermann
المصدر: Stem cell research 41, 101606 (2019). doi:10.1016/j.scr.2019.101606
Stem Cell Research, Vol 41, Iss, Pp-(2019)مصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Lineage (genetic), Cellular differentiation, pathology [Niemann-Pick Disease, Type C], Induced Pluripotent Stem Cells, Vesicular Transport Proteins, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, genetics [Vesicular Transport Proteins], genetics [Niemann-Pick Disease, Type C], hemic and lymphatic diseases, ddc:570, medicine, Humans, Induced pluripotent stem cell, Gene, lcsh:QH301-705.5, Cells, Cultured, Mutation, nutritional and metabolic diseases, Niemann-Pick Disease, Type C, Cell Differentiation, Cell Biology, General Medicine, Fibroblasts, medicine.disease, pathology [Induced Pluripotent Stem Cells], metabolism [Induced Pluripotent Stem Cells], 030104 developmental biology, lcsh:Biology (General), Cell culture, Cancer research, NPC1, pathology [Fibroblasts], Niemann–Pick disease, 030217 neurology & neurosurgery, metabolism [Fibroblasts], Developmental Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e06ab8a8a373a410249f0ea50ffad0c
https://pub.dzne.de/record/145042 -
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المؤلفون: Kristina Dominko, Birgit Hutter-Paier, Stefan F. Lichtenthaler, Stjepko Cermak, Peer-Hendrik Kuhn, Dimitri Krainc, Martina Pigoni, Daniel Havas, Jessica McDonald, Mirsada Causevic, Alessio Colombo, Silva Hećimović, Manfred Windisch, Sabina Tahirovic, Stefanie Flunkert, Lea Vidatic, Martina Malnar, Jenny M. Gunnersen
المصدر: PLoS ONE, Vol 13, Iss 7, p e0200344 (2018)
PLoS One
PLOS ONE 13(7), e0200344 (2018). doi:10.1371/journal.pone.0200344
PLoS ONEمصطلحات موضوعية: Metabolic Processes, 0301 basic medicine, Cerebellum, pathology [Niemann-Pick Disease, Type C], Purkinje cell, lcsh:Medicine, Alzheimer's Disease, Hippocampus, Biochemistry, amyloid precursor protein, APP, BACE1, β-secretase, Niemann- Pick type C disease, NPC1, seizure protein 6, seizure 6-like protein, Contractile Proteins, 0302 clinical medicine, Animal Cells, pathology [Brain], Medicine and Health Sciences, Amyloid precursor protein, pathology [Neurons], Aspartic Acid Endopeptidases, lcsh:Science, Sez6 protein, mouse, Neurons, Cerebral Cortex, Mice, Knockout, Mice, Inbred BALB C, Multidisciplinary, biology, Neurodegeneration, growth & development [Brain], Intracellular Signaling Peptides and Proteins, Brain, Niemann-Pick Disease, Type C, Neurodegenerative Diseases, metabolism [Proteins], Npc1 protein, mouse, Animal Models, metabolism [Aspartic Acid Endopeptidases], Lipids, Cell biology, Cholesterol, medicine.anatomical_structure, Experimental Organism Systems, Neurology, metabolism [Neurons], Cellular Types, Anatomy, Niemann–Pick disease, Research Article, Bace1 protein, mouse, Mouse Models, Nerve Tissue Proteins, Research and Analysis Methods, 03 medical and health sciences, metabolism [Niemann-Pick Disease, Type C], Model Organisms, Niemann-Pick C1 Protein, Mental Health and Psychiatry, mental disorders, medicine, Animals, ddc:610, Biology, metabolism [Nerve Tissue Proteins], lcsh:R, Biology and Life Sciences, Proteins, Cell Biology, medicine.disease, genetics [Proteins], Actins, metabolism [Amyloid Precursor Protein Secretases], Cytoskeletal Proteins, Disease Models, Animal, Metabolism, 030104 developmental biology, metabolism [Brain], Cellular Neuroscience, Proteolysis, biology.protein, Dementia, lcsh:Q, Amyloid Precursor Protein Secretases, Amyloid precursor protein secretase, 030217 neurology & neurosurgery, Immunostaining, Neuroscience
وصف الملف: application/pdf
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المؤلفون: Silva Hećimović, Damir Omerbašić, Marko Kosicek, Ana Lisica, Sabina Tahirovic, Melanija Posavec, Jasenka Njavro, Martina Malnar, Ana Krolo
المصدر: Biochimica et biophysica acta-molecular basis of disease
Biochimica et biophysica acta / Molecular basis of disease 1822(8), 1270-1283 (2012). doi:10.1016/j.bbadis.2012.04.002مصطلحات موضوعية: deficiency [Cholesterol], drug effects [Hippocampus], pathology [Niemann-Pick Disease, Type C], Endocytic cycle, metabolism [Hippocampus], Hippocampus, chemistry.chemical_compound, Amyloid beta-Protein Precursor, 0302 clinical medicine, Cricetinae, metabolism [Amyloid beta-Protein Precursor], Internalization, media_common, Neurons, Alzheimer’s disease, APP, BACE1, cholesterol, endocytosis, NPC1, pharmacology [Androstenes], 0303 health sciences, Microscopy, Confocal, 3-beta-(2-(diethylamino)ethoxy)androst-5-en-17-one, Biochemistry and Molecular Biology, Niemann-Pick Disease, Type C, Alzheimer's disease, Immunohistochemistry, Endocytosis, Cell biology, Cholesterol, Biochemistry, metabolism [Neurons], Molecular Medicine, Androstenes, Intracellular, metabolism [Endosomes], Endosome, media_common.quotation_subject, CHO Cells, Endosomes, Biology, Transfection, metabolism [Niemann-Pick Disease, Type C], 03 medical and health sciences, mental disorders, drug effects [Neurons], Animals, ddc:610, Molecular Biology, 030304 developmental biology, Colocalization, Basic Medical Sciences, metabolism [Cholesterol], metabolism [Amyloid Precursor Protein Secretases], Rats, chemistry, cytology [Hippocampus], Amyloid Precursor Protein Secretases, 030217 neurology & neurosurgery, Neuroscience
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ca5121d139d677056b3b8eaef6ba6f3
http://fulir.irb.hr/2386/ -
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المؤلفون: Stefan Mitterreiter, Martina Malnar, Damir Omerbašić, Marko Kosicek, Silva Hećimović, Stefan F. Lichtenthaler, Alison Goate
المساهمون: Division of Molecular Medicine, Rudjer Boskovic Institute [Zagreb], German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Department of Psychiatry, Washington University School of Medicine
المصدر: Biochimica et biophysica acta / Molecular basis of disease 1802(7-8), 682-691 (2010). doi:10.1016/j.bbadis.2010.05.006
Biochimica et Biophysica Acta-Molecular Basis of Disease
Biochimica et Biophysica Acta-Molecular Basis of Disease, Elsevier, 2010, 1802 (7-8), pp.682. ⟨10.1016/j.bbadis.2010.05.006⟩
Biochimica et biophysica acta : molecular basis of diseasمصطلحات موضوعية: pathology [Niemann-Pick Disease, Type C], Cell, genetics [Carrier Proteins], Alzheimer’s disease, amyloid-β, APP, cholesterol, β-secretase, NPC1, chemistry.chemical_compound, Amyloid beta-Protein Precursor, 0302 clinical medicine, physiology [Carrier Proteins], physiology [Membrane Glycoproteins], genetics [Membrane Glycoproteins], hemic and lymphatic diseases, Cricetinae, CTFs, metabolism [Amyloid beta-Protein Precursor], drug effects [Protein Processing, Post-Translational], NPC1 protein, human, Cells, Cultured, Aβ, 0303 health sciences, metabolism [Antigens, Surface], Membrane Glycoproteins, Increased cholesterol, biology, Biochemistry and Molecular Biology, Intracellular Signaling Peptides and Proteins, Niemann-Pick Disease, Type C, Alzheimer's disease, flAPP, sAPP, medicine.anatomical_structure, Cholesterol, Biochemistry, Antigens, Surface, β secretase, Molecular Medicine, lipids (amino acids, peptides, and proteins), DAPT, NPC, Intracellular, Signal Transduction, ApoE, FA, drug effects [Signal Transduction], CHO Cells, Cleavage (embryo), Transfection, Article, metabolism [Cell Membrane], 03 medical and health sciences, metabolism [Niemann-Pick Disease, Type C], Cricetulus, Niemann-Pick C1 Protein, genetics [Niemann-Pick Disease, Type C], physiology [Signal Transduction], medicine, Animals, ddc:610, Biology, Molecular Biology, 030304 developmental biology, AICD, Cell Membrane, Basic Medical Sciences, LPDS, AD, metabolism [Cholesterol], Molecular biology, pharmacology [Cholesterol], metabolism [Amyloid Precursor Protein Secretases], SEAP, chemistry, biology.protein, drug effects [Cell Membrane], Amyloid Precursor Protein Secretases, Carrier Proteins, Protein Processing, Post-Translational, Amyloid precursor protein secretase, 030217 neurology & neurosurgery, Neuroscience
وصف الملف: application/pdf
