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المؤلفون: Lee Pellegrino, Monika Kandebo, Nicole K. Polinski, Mark Herberth, Leo B. Dungan, Robert Switzer, Gregory D. Ellsworth, Sean W. Clark, Alexander Gorodinsky, Robert E. Drolet, Peter D. Buckett, Mali Cosden, Michael Sasner, Ralph Gareus, Syed Omar Ahmad, Weisong Shan, Terina N. Martinez, Kuldip D. Dave, Warren D. Hirst, Yi Chen
المصدر: PLoS ONE
PLoS ONE, Vol 16, Iss 6, p e0252325 (2021)مصطلحات موضوعية: Male, Heredity, medicine.disease_cause, Hippocampus, Homozygosity, chemistry.chemical_compound, Mice, Medical Conditions, Medicine and Health Sciences, Gene Knock-In Techniques, Mutation, Multidisciplinary, Movement Disorders, Heterozygosity, Brain, Neurodegenerative Diseases, Parkinson Disease, Glycosphingolipid, Animal Models, Phenotype, Cell biology, Experimental Organism Systems, Neurology, Liver, Medicine, Glucosylceramidase, Female, medicine.symptom, Cellular Structures and Organelles, Anatomy, medicine.drug, Research Article, Science, Immunoblotting, Inflammation, Substantia nigra, Mouse Models, Mice, Transgenic, Biology, Research and Analysis Methods, Glycosphingolipids, Model Organisms, Parkinsonian Disorders, Dopamine, medicine, Genetics, Point Mutation, Animals, Gene, Point mutation, Biology and Life Sciences, Cell Biology, Mice, Inbred C57BL, chemistry, Animal Studies, Lysosomes
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المؤلفون: Rachael Siegel, Venu Bommireddy, Paget Steven, Albert J. Uveges, Rukiye-Nazan Eraslan, Lee Pellegrino, Krista Saufler, Chia-yu Huang, Eli Mordechai, Haihua Zheng, Gary L. Schieven, Jason Trama, Michael McQueney, Miglena Prabagar, Ku Lu, Axel Metzger, Martin E. Adelson, David Diller, Grant Gallagher, Brian F. Mcguinness, Stanley P. Nawoschik, James R. Beasley
المصدر: Cancer Research. 81:524-524
مصطلحات موضوعية: Agonist, Cancer Research, Sting, Immune system, Bladder cancer, Oncology, business.industry, medicine.drug_class, Cancer research, Medicine, business, Non muscle invasive, medicine.disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f9b856e7848effdfb38bf1a76408541e
https://doi.org/10.1158/1538-7445.am2021-524 -
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المؤلفون: David J. Lockhart, Sindalana Hean, Lee Pellegrino, Sheila M. Fleming, Melanie B. Watson, Farzad Mortazavi, Franziska Richter, Caitlin K. Mulligan, Brian Ranes, Chunni Zhu, Richie Khanna, John J. Flanagan, Sean W. Clark, Pedrom C. Sioshansi, Krystal De La Rosa, Vincent Lemesre, Brandon Wustman, Marie-Françoise Chesselet
المصدر: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, vol 11, iss 4
مصطلحات موضوعية: Male, Parkinson's disease, Chaperone, Neurodegenerative, Pharmacology, Mice, chemistry.chemical_compound, Motor behavior, 2.1 Biological and endogenous factors, Pharmacology (medical), Aetiology, Tartrates, Acid-beta-glucosidase, biology, beta-Glucosidase, Dopaminergic, Brain, Parkinson Disease, Pharmacology and Pharmaceutical Sciences, Substantia Nigra, Pharmacological chaperone, Protein Transport, 5.1 Pharmaceuticals, Neurological, alpha-Synuclein, Public Health and Health Services, Original Article, Development of treatments and therapeutic interventions, Imino Pyranoses, medicine.drug, Substantia nigra, Motor Activity, Mouse model, Alpha-synuclein, Protein Aggregates, medicine, Animals, Humans, Synucleinopathies, Neurology & Neurosurgery, Animal, Dopaminergic Neurons, Prevention, Neurosciences, medicine.disease, Brain Disorders, Disease Models, Animal, nervous system, chemistry, Chaperone (protein), Disease Models, biology.protein, Acid-β-glucosidase, Neurology (clinical), Glucocerebrosidase, Neuroscience
وصف الملف: application/pdf
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المؤلفون: Yi Lun, John J. Flanagan, Nastry Brignol, Michelle Frascella, David J. Lockhart, Darlene Guillen, Adriane Schilling, Jessie Feng, Kenneth J. Valenzano, Brandy L. Young, Richie Khanna, Elfrida R. Benjamin, Lee Pellegrino, Brian Ranes, Leo B. Dungan, Rebecca Soska
المصدر: Molecular Therapy
مصطلحات موضوعية: Blotting, Western, Globotriaosylceramide, Fluorescent Antibody Technique, Pharmacology, law.invention, Mice, chemistry.chemical_compound, law, Drug Discovery, medicine, Genetics, Animals, Humans, Enzyme Replacement Therapy, Molecular Biology, Alpha-galactosidase, biology, Trihexosylceramides, Enzyme replacement therapy, medicine.disease, Fabry disease, Molecular biology, Recombinant Proteins, In vitro, Rats, Pharmacological chaperone, chemistry, alpha-Galactosidase, Knockout mouse, biology.protein, Recombinant DNA, Fabry Disease, Molecular Medicine, Original Article, Oligopeptides, medicine.drug
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المؤلفون: Hadis Nafar, Brigitte Rigat, Allan C. Powe, Jessie Feng, Yi Lun, Elfrida R. Benjamin, Richie Khanna, Adriane Schilling, David J. Lockhart, Lee Pellegrino, Brian Ranes, Raphael Schiffmann, Kenneth J. Valenzano, Brandon Wustman, Don J. Mahuran, David Palling, Rebecca Soska
المصدر: FEBS Journal. 277:1618-1638
مصطلحات موضوعية: chemistry.chemical_classification, Mutation, endocrine system diseases, Mutant, nutritional and metabolic diseases, Endogeny, Cell Biology, Biology, Pharmacology, medicine.disease_cause, Biochemistry, Molecular biology, Glucosylceramidase, Pharmacological chaperone, Dose–response relationship, Enzyme, chemistry, Oral administration, medicine, Molecular Biology, medicine.drug
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المؤلفون: Sheela Sitaraman, Jessie Feng, Michelle Frascella, Lee Pellegrino, Rebecca Soska, Nastry Brignol, David J. Lockhart, Brandy Young, Robert J. Desnick, Kenneth J. Valenzano, Elfrida R. Benjamin, Richie Khanna, Yi Lun
المصدر: Molecular Therapy. 18:23-33
مصطلحات موضوعية: 1-Deoxynojirimycin, Blotting, Western, Globotriaosylceramide, Mice, Transgenic, Pharmacology, Biology, Mice, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, In vivo, Oral administration, Migalastat, Drug Discovery, Genetics, medicine, Animals, Humans, Molecular Biology, 030304 developmental biology, Mice, Knockout, 0303 health sciences, Alpha-galactosidase, Trihexosylceramides, Original Articles, medicine.disease, Immunohistochemistry, Fabry disease, 3. Good health, Mice, Inbred C57BL, Pharmacological chaperone, Disease Models, Animal, chemistry, alpha-Galactosidase, Immunology, biology.protein, Fabry Disease, Molecular Medicine, 030217 neurology & neurosurgery, medicine.drug
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المؤلفون: Kenneth J. Valenzano, Richie Khanna, Rohini Dhulipala, Nastry Brignol, Yi Lun, David J. Lockhart, Su Xu, Hung V. Do, Rebecca Soska, Michelle Frascella, Brandon Wustman, Jessie Feng, Lee Pellegrino, Anadina Garcia, Matthew J. Toth, Allan C. Powe
المصدر: PLoS ONE
PLoS ONE, Vol 9, Iss 7, p e102092 (2014)مصطلحات موضوعية: lcsh:Medicine, Administration, Oral, Endoplasmic Reticulum, Biochemistry, chemistry.chemical_compound, Gene Knockout Techniques, Mice, Glycogen storage disease type II, Chlorocebus aethiops, Enzyme Stability, Drug Discovery, Medicine and Health Sciences, lcsh:Science, Multidisciplinary, Glycogen, Glycogen Storage Disease Type II, Pharmacological chaperone, Isoenzymes, Protein Transport, COS Cells, Acid alpha-glucosidase, Metabolic Pathways, Glycogen Storage Diseases, Genetic Dominance, medicine.drug, Research Article, Biotechnology, Genetically modified mouse, congenital, hereditary, and neonatal diseases and abnormalities, 1-Deoxynojirimycin, Drug Research and Development, Biological Availability, Mice, Transgenic, Biology, Isozyme, Autosomal Recessive Diseases, medicine, Genetics, Animals, Humans, Pharmacology, Endoplasmic reticulum, lcsh:R, nutritional and metabolic diseases, Biology and Life Sciences, medicine.disease, Molecular biology, Disease Models, Animal, Metabolism, chemistry, Metabolic Disorders, Mutation, Proteolysis, Biocatalysis, lcsh:Q, Mutant Proteins, Glucan 1,4-alpha-Glucosidase, Lysosomes
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المؤلفون: Jessie Feng, Darlene Guillen, David J. Lockhart, Richie Khanna, Yi Lun, Kenneth J. Valenzano, John J. Flanagan, Michelle Frascella, Lee Pellegrino, Rebecca Soska
المصدر: PLoS ONE
PLoS ONE, Vol 7, Iss 7, p e40776 (2012)مصطلحات موضوعية: Protein Denaturation, Mouse, lcsh:Medicine, Biochemistry, chemistry.chemical_compound, Mice, Glycogen storage disease type II, Enzyme Stability, Drug Discovery, Lysosomal storage disease, lcsh:Science, Mice, Knockout, Multidisciplinary, Glycogen, Glycogen Storage Disease Type II, Enzyme replacement therapy, Animal Models, Recombinant Proteins, Enzymes, Pharmacological chaperone, medicine.drug, Half-Life, Research Article, Biotechnology, medicine.medical_specialty, 1-Deoxynojirimycin, Buffers, Enzyme activator, Model Organisms, In vivo, Internal medicine, medicine, Genetics, Animals, Humans, Biology, lcsh:R, Proteins, alpha-Glucosidases, Human Genetics, medicine.disease, Rats, Enzyme Activation, Disease Models, Animal, Endocrinology, chemistry, Small Molecules, Genetics of Disease, Rat, lcsh:Q
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المؤلفون: Yi Lun, Richie Khanna, Anadina Garcia, Su Xu, Lee Pellegrino, Jessie Feng, Kenneth J. Valenzano, Rebecca Soska, David J. Lockhart, John J. Flanagan, Michelle Frascella
المصدر: Neuromuscular Disorders. 23:828-829
مصطلحات موضوعية: chemistry.chemical_classification, medicine.medical_specialty, Glycogen, Skeletal muscle, Enzyme replacement therapy, medicine.disease, law.invention, Pharmacological chaperone, chemistry.chemical_compound, medicine.anatomical_structure, Enzyme, Immune system, Endocrinology, Neurology, chemistry, law, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Lysosomal storage disease, Recombinant DNA, Neurology (clinical), Genetics (clinical), medicine.drug
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المؤلفون: Jessie Feng, Rebecca Soska, Michelle Frascella, Yi Lun, Lee Pellegrino, David J. Lockhart, Darlene Guillen, John Flanagan, Richie Khanna, Kenneth J. Valenzano
المصدر: Neuromuscular Disorders. 22:851-852
مصطلحات موضوعية: medicine.medical_specialty, biology, Glycogen, Endogeny, Enzyme replacement therapy, medicine.disease, Enzyme assay, Pharmacological chaperone, chemistry.chemical_compound, Endocrinology, Immune system, Neurology, chemistry, Oral administration, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, biology.protein, Lysosomal storage disease, Neurology (clinical), Genetics (clinical), medicine.drug
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