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المؤلفون: Marchetti, Marialaura, Faggiano, Serena, Mozzarelli, Andrea
المصدر: Current medicinal chemistry 29 (2022): 489–525. doi:10.2174/0929867328666210526144654
info:cnr-pdr/source/autori:Marchetti, Marialaura and Faggiano, Serena and Mozzarelli, Andrea/titolo:Enzyme Replacement Therapy for Genetic Disorders Associated with Enzyme Deficiency/doi:10.2174%2F0929867328666210526144654/rivista:Current medicinal chemistry/anno:2022/pagina_da:489/pagina_a:525/intervallo_pagine:489–525/volume:29مصطلحات موضوعية: HUMAN BETA-GLUCURONIDASE, medicine.medical_treatment, Mannose 6-phosphate, cell internalization, Bioinformatics, recombinant proteins, metabolic diseases, Biochemistry, mannose 6-phosphate, lysosomal storage disorders, chemistry.chemical_compound, genetic disease, Lysosome, Drug Discovery, medicine, TYPE-1 GAUCHER-DISEASE, Animals, Humans, CRISPR, biologics, Enzyme Replacement Therapy, Enzyme deficiency, Gene, Pharmacology, chemistry.chemical_classification, TUMOR-LYSIS-SYNDROME, LYSOSOMAL ALPHA-MANNOSIDASE, Cas9, business.industry, Organic Chemistry, Enzyme replacement therapy, Stem-cell therapy, BONE-MARROW-TRANSPLANTATION, Lysosomal Storage Diseases, MUCOPOLYSACCHARIDOSIS TYPE-II, medicine.anatomical_structure, Enzyme, chemistry, Blood-Brain Barrier, ADENOSINE-DEAMINASE DEFICIENCY, PHENYLALANINE AMMONIA-LYASE, Molecular Medicine, ONSET METACHROMATIC LEUKODYSTROPHY, LESCH-NYHAN-DISEASE, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4ddd2b9510c1cf7b8c41d8201bdcfb0Test
https://doi.org/10.2174/0929867328666210526144654Test -
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المؤلفون: Andrij Holian, Rebekah L Kendall
المصدر: Inhalation Toxicology. 33:41-54
مصطلحات موضوعية: Membrane permeability, Inflammasomes, Health, Toxicology and Mutagenesis, Cellular homeostasis, 010501 environmental sciences, Toxicology, 01 natural sciences, Ion Channels, Exocytosis, Autoimmune Diseases, 03 medical and health sciences, 0302 clinical medicine, Lysosome, medicine, Humans, Loss function, Ion channel, 0105 earth and related environmental sciences, Chemistry, Autophagy, Neurodegenerative Diseases, Transporter, Cell biology, Lysosomal Storage Diseases, medicine.anatomical_structure, 030228 respiratory system, Lysosomes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73a2e1a9d59c677a44557d3dd8d258b9Test
https://doi.org/10.1080/08958378.2021.1876188Test -
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المصدر: Molecular Biology Reports. 48:363-370
مصطلحات موضوعية: Male, 0301 basic medicine, Cell type, Mucopolysaccharidosis I, Mucopolysaccharidosis, Mice, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Lysosome, Genetics, medicine, Lysosomal storage disease, Animals, Humans, Molecular Biology, Glycosaminoglycans, Sertoli Cells, Chemistry, Leydig Cells, General Medicine, Interstitial Cells of Cajal, Sertoli cell, medicine.disease, Epididymis, Spermatozoa, Cell biology, Lysosomal Storage Diseases, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Mutation, Disease Progression, Spermatogenesis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e812b0ec90c5b71781bc779b3cb2f8bTest
https://doi.org/10.1007/s11033-020-06055-5Test -
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المؤلفون: Liliana Pedro, Patrick J Rudewicz
المصدر: Analytical Chemistry. 92:16005-16015
مصطلحات موضوعية: Phospholipidosis, education.field_of_study, Microscopy, Confocal, Chemistry, Confocal, Metabolite, Cell, Population, Amiodarone, Hep G2 Cells, Cell morphology, Mass Spectrometry, Analytical Chemistry, law.invention, Cell biology, Lysosomal Storage Diseases, chemistry.chemical_compound, medicine.anatomical_structure, Confocal microscopy, law, medicine, Humans, Single-Cell Analysis, education, Drug metabolism
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3738c426145a48f1731a1bad829e8692Test
https://doi.org/10.1021/acs.analchem.0c03534Test -
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المؤلفون: Audrey Jalabert, Audrey Villard-Garon, Sophie Rome, Annette Draeger, Pascal Colosetti, Christophe O. Soulage, Françoise Hullin-Matsuda, Isabelle Delton, Cyrille Bergerot, Céline Luquain-Costaz, Elisabeth Errazuriz-Cerda, Valentin Leuzy, Mathilde Di Filippo, Annie Durand, Baptiste Fourmaux, Maxence Rabia, René Köffel, Philippe Moulin
المساهمون: Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Physiologie intégrative, cellulaire et moléculaire (PICM), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Institut National de la Santé et de la Recherche Médicale (INSERM), French Ministery of education Institut National de la Sante et de la Recherche Medicale (Inserm) University of Bern SFD (Societe Francophone du Diabete_AE 2016) VML (Vaincre les Maladies Lysosomales_convention AO2018-6)
المصدر: Biochimie
Biochimie, 2020, ⟨10.1016/j.biochi.2020.07.005⟩مصطلحات موضوعية: Male, 0301 basic medicine, THP-1 Cells, Endosome, [SDV]Life Sciences [q-bio], Phospholipid, Amiodarone, Pilot Projects, Endosomes, Exosomes, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, Lysosomal storage diseases, medicine, Extracellular, Animals, Humans, 610 Medicine & health, Aged, Phospholipidosis, Kidney, 030102 biochemistry & molecular biology, CD63, Chemistry, Macrophages, Bis(monoacylglycero)phosphate, General Medicine, Middle Aged, Extracellular vesicles, Lysobisphosphatidic acid, Endolysosome, Microvesicles, Rats, Cell biology, Docosahexaenoic acid, HEK293 Cells, 030104 developmental biology, medicine.anatomical_structure, interest, Monoglycerides, Female, Kidney Diseases, Lysophospholipids, Lysosomes, Anti-Arrhythmia Agents, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15d9635ec3b56ac0b8edbba60e968406Test
https://doi.org/10.1016/j.biochi.2020.07.005Test -
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المصدر: Movement Disorders. 35:2150-2155
مصطلحات موضوعية: Parkinson's disease, business.industry, Parkinson Disease, Lysosomal storage disorders, medicine.disease, Bioinformatics, Lysosomal Storage Diseases, medicine.anatomical_structure, Neurology, Lysosome, Humans, Medicine, Neurology (clinical), Lysosomes, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::462b439205e5a4c3ccd968b70c734ac7Test
https://doi.org/10.1002/mds.28232Test -
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المؤلفون: Shifra Ben-Dor, Anthony H. Futerman, Soo Min Cho, Ulrich Kalinke, Ayelet Vardi, Julia Spanier
المساهمون: TWINCORE, Zentrum für experimentelle und klinische Infektionsforschung GmbH,Feodor-Lynen Str. 7, 30625 Hannover, Germany.
المصدر: Journal of Neuroinflammation, Vol 17, Iss 1, Pp 1-13 (2020)
Journal of Neuroinflammation
Journal of neuroinflammation
Englandمصطلحات موضوعية: 0301 basic medicine, Chemokine, Pathogen recognition receptors, Immunology, Gaucher disease, Type 1 interferon, lcsh:RC346-429, Mice, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Interferon, hemic and lymphatic diseases, Lysosomal storage diseases, medicine, Animals, Receptor, Neuroinflammation, lcsh:Neurology. Diseases of the nervous system, Mice, Knockout, Neurons, Innate immune system, biology, Microglia, Research, General Neuroscience, Neurodegenerative diseases, Sphingolipid, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Lipid metabolism, Neurology, Interferon Type I, Cancer research, biology.protein, Glucosylceramidase, Tumor necrosis factor alpha, 030217 neurology & neurosurgery, Signal Transduction, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38ba497013484225939efc07c4580b25Test
http://link.springer.com/article/10.1186/s12974-020-01934-xTest -
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المؤلفون: Nico Mitro, Matteo Audano, Anja Schneider
المصدر: Journal of neurochemistry 147(3), 291-309 (2018). doi:10.1111/jnc.14471
مصطلحات موضوعية: 0301 basic medicine, Mitochondrial Diseases, Cell, Context (language use), Mitochondrion, Biology, Biochemistry, pathology [Mitochondria], 03 medical and health sciences, Cellular and Molecular Neuroscience, Lysosome, Organelle, medicine, Animals, Humans, ddc:610, pathology [Lysosomal Storage Diseases], Neurodegeneration, Autophagy, pathology [Neurodegenerative Diseases], Neurodegenerative Diseases, medicine.disease, Mitochondria, Cell biology, Lysosomal Storage Diseases, pathology [Mitochondrial Diseases], 030104 developmental biology, medicine.anatomical_structure, Lysosomes, Homeostasis, pathology [Lysosomes]
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09eaaf5adbfe555b3f5cc63df6f95bc7Test
https://doi.org/10.1111/jnc.14471Test -
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المؤلفون: Luis H. Reyes, Carlos Manuel Ramírez, Oscar F. Sánchez, Angela J. Espejo-Mojica, Carlos J. Alméciga-Díaz, Juan C. Cruz, Andres Felipe Leal
المصدر: Journal of Molecular Medicine. 98:931-946
مصطلحات موضوعية: Genetic enhancement, Computational biology, ENCODE, 03 medical and health sciences, 0302 clinical medicine, Genome editing, Lysosome, Drug Discovery, Animals, Humans, CRISPR, Medicine, Substrate reduction therapy, Genetics (clinical), Gene Editing, business.industry, Hematopoietic Stem Cell Transplantation, Proteins, Genetic Therapy, Enzyme replacement therapy, Human genetics, Lysosomal Storage Diseases, medicine.anatomical_structure, Molecular Medicine, Lysosomes, business, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5f0642a8ede4d6c4360edce408e4a91Test
https://doi.org/10.1007/s00109-020-01935-6Test -
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المؤلفون: Dmitri Sviridov, Rami A. Ballout, Michael Bukrinsky, Alan T. Remaley
المصدر: The FASEB Journal
مصطلحات موضوعية: 0301 basic medicine, angiotensin‐converting enzyme‐2 (ACE2), Cathepsin L, Disease, medicine.disease_cause, Bioinformatics, Biochemistry, 0302 clinical medicine, Coronavirus, lipid rafts, Alanine, Serine Endopeptidases, Hypotheses, Glycopeptides, Intracellular Signaling Peptides and Proteins, Niemann-Pick Disease, Type C, Oxysterols, Phenotype, Endocytosis, Drug repositioning, medicine.anatomical_structure, Receptors, Virus, Angiotensin-Converting Enzyme 2, Coronavirus Infections, Hydroxychloroquine, Biotechnology, Pneumonia, Viral, Endosomes, ADAM17 Protein, Peptidyl-Dipeptidase A, Antiviral Agents, Benzylisoquinolines, Virus, Betacoronavirus, Membrane Lipids, 03 medical and health sciences, Membrane Microdomains, COVID‐19, Niemann-Pick C1 Protein, Lysosome, Genetics, medicine, Humans, lysosomal storage diseases, Pandemics, Molecular Biology, Niemann–Pick disease, type C, SARS-CoV-2, business.industry, pandemic, Drug Repositioning, cholesterol, COVID-19, Biological Transport, Triazoles, Virus Internalization, medicine.disease, Adenosine Monophosphate, COVID-19 Drug Treatment, 030104 developmental biology, cathepsins, Lysosomes, business, 030217 neurology & neurosurgery, Function (biology)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0dd4cd96da05755cc6db79411477b51Test
https://doi.org/10.1096/fj.202000654rTest
