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1دورية أكاديمية
المؤلفون: Jessica P. Lao, Nina DiPrimio, Madeleine Prangley, Feba S. Sam, Joshua D. Mast, Ethan O. Perlstein
المصدر: G3: Genes, Genomes, Genetics, Vol 9, Iss 2, Pp 413-423 (2019)
مصطلحات موضوعية: Phosphomannomutase 2 Deficiency, PMM2-CDG, congenital disorders of glycosylation, yeast models of human disease, drug screens, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2160-1836
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2دورية أكاديمية
المؤلفون: Sangeetha Iyer, Feba S. Sam, Nina DiPrimio, Graeme Preston, Jan Verheijen, Kausalya Murthy, Zachary Parton, Hillary Tsang, Jessica Lao, Eva Morava, Ethan O. Perlstein
المصدر: Disease Models & Mechanisms, Vol 12, Iss 11 (2019)
مصطلحات موضوعية: phosphomannomutase 2 deficiency, drug repurposing, pmm2-cdg, congenital disorder of glycosylation, aldose reductase inhibitor, epalrestat, Medicine, Pathology, RB1-214
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Sangeetha Iyer, Joshua D. Mast, Hillary Tsang, Tamy P. Rodriguez, Nina DiPrimio, Madeleine Prangley, Feba S. Sam, Zachary Parton, Ethan O. Perlstein
المصدر: Disease Models & Mechanisms, Vol 12, Iss 11 (2019)
مصطلحات موضوعية: n-glycanase 1 deficiency, ngly1, skn-1, pngl, congenital disorder of deglycosylation, disease model, aripiprazole, Medicine, Pathology, RB1-214
وصف الملف: electronic resource
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المؤلفون: Andrea Hadjikyriacou, Sangeetha Iyer, Joshua D. Mast, Nina DiPrimio, John Concannon, Joshua Ketterman, Frederic Sigoillot, Tamy P. Rodriguez, Feba S. Sam, Hillary Tsang, Madeleine Prangley, Julide Bilen, Kausalya Murthy, Tom A. Hartl, Christophe Antczak, Jeremy L Jenkins, Nathan T. Ross, Beat Nyfeler, Rishi K. Jain, John A. Tallarico, Ethan O. Perlstein, Stephen M. Canham
مصطلحات موضوعية: Drug discovery, ved/biology, Phenotypic screening, ved/biology.organism_classification_rank.species, Computational biology, Biology, medicine.disease, biology.organism_classification, Phenotype, medicine, Lysosomal storage disease, Mucolipidosis type IV, Drosophila melanogaster, Model organism, Function (biology)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::96724114f0536d920b8fc593b93f63bf
https://doi.org/10.1101/2021.03.05.434120 -
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المؤلفون: Ethan O. Perlstein, Nina DiPrimio, Hillary Tsang, Sangeetha Iyer, Madeleine Prangley, Zachary Parton, Tamy Portillo Rodriguez, Joshua D. Mast, Feba S. Sam
المصدر: Disease Models & Mechanisms, Vol 12, Iss 11 (2019)
مصطلحات موضوعية: 0301 basic medicine, congenital disorder of deglycosylation, ved/biology.organism_classification_rank.species, Neuroscience (miscellaneous), Medicine (miscellaneous), lcsh:Medicine, Biology, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, aripiprazole, Immunology and Microbiology (miscellaneous), medicine, Transcriptional regulation, lcsh:Pathology, NRF1, Model organism, Receptor, Bortezomib, ved/biology, skn-1, disease model, lcsh:R, n-glycanase 1 deficiency, pngl, Phenotype, ngly1, Cell biology, 030104 developmental biology, Dopamine receptor, Proteasome inhibitor, 030217 neurology & neurosurgery, medicine.drug, lcsh:RB1-214
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المؤلفون: Sangeetha, Iyer, Joshua D, Mast, Hillary, Tsang, Tamy P, Rodriguez, Nina, DiPrimio, Madeleine, Prangley, Feba S, Sam, Zachary, Parton, Ethan O, Perlstein
المصدر: Disease Models & Mechanisms
مصطلحات موضوعية: Nematoda, NF-E2-Related Factor 2, Drug Evaluation, Preclinical, Aripiprazole, Congenital disorder of deglycosylation, Bortezomib, Catecholamines, Congenital Disorders of Glycosylation, SKN-1, N-glycanase 1 deficiency, Drug Discovery, Animals, Humans, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase, NGLY1, Inflammation, Kelch-Like ECH-Associated Protein 1, Disease model, Diptera, Dros, Dd, Disease Models, Animal, Pngl, Signal Transduction, Research Article
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المؤلفون: Joshua D. Mast, Feba S. Sam, Sangeetha Iyer, Madeleine Prangley, Nina DiPrimio, Zachary Parton, Ethan O. Perlstein, Tamy Portillo Rodriguez, Hillary Tsang
مصطلحات موضوعية: Bortezomib, ved/biology, ved/biology.organism_classification_rank.species, Biology, Pharmacology, Phenotype, Drug repositioning, medicine, Proteasome inhibitor, Transcriptional regulation, NRF1, Model organism, Receptor, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a16f9405c762d4bc117663285ecbcbe5
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المؤلفون: Jessica P. Lao, Feba S. Sam, Nina DiPrimio, Joshua D. Mast, Ethan O. Perlstein, Madeleine Prangley
المصدر: G3: Genes, Genomes, Genetics, Vol 9, Iss 2, Pp 413-423 (2019)
G3: Genes|Genomes|Geneticsمصطلحات موضوعية: Saccharomyces cerevisiae Proteins, Saccharomyces cerevisiae, Mutation, Missense, Investigations, QH426-470, medicine.disease_cause, Compound heterozygosity, PMM2-CDG, 03 medical and health sciences, 0302 clinical medicine, Loss of Function Mutation, Genotype, Genetics, medicine, Humans, Missense mutation, Molecular Biology, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, biology, Phosphomannomutase 2 Deficiency, biology.organism_classification, medicine.disease, Yeast, drug screens, Phosphotransferases (Phosphomutases), yeast models of human disease, Congenital disorder of glycosylation, 030217 neurology & neurosurgery, congenital disorders of glycosylation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99a27bd7ca675d42473548a18f35d8c9
https://doi.org/10.1101/414862 -
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المؤلفون: J. Christopher Anderson, Keith Fraser, Binh Vo, Kevin P. Battaile, Christopher Bystroff, David D. Weis, Scott Lovell, John Karanicolas, Theodore R. Keppel, Chet Egan, Nina DiPrimio, Yan Xia
المصدر: Journal of the American Chemical Society, vol 135, iss 50
مصطلحات موضوعية: Electrophoresis, Conformational change, Indoles, Protein Conformation, Green Fluorescent Proteins, Allosteric regulation, Chemical biology, Computational biology, Biochemistry, Article, Catalysis, Colloid and Surface Chemistry, Protein structure, Genes, Reporter, 2.1 Biological and endogenous factors, Aetiology, Binding site, Reporter, chemistry.chemical_classification, Polyacrylamide Gel, biology, Chemistry, Proteins, Active site, General Chemistry, Enzyme, Genes, Chemical Sciences, Mutation, biology.protein, Electrophoresis, Polyacrylamide Gel, Generic health relevance, Function (biology)
وصف الملف: application/pdf
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المؤلفون: Dawn E. Bowles, Joseph E. Rabinowitz, Mavis Agbandje-McKenna, Paul E. Monahan, Chengwen Li, Aravind Asokan, Nina DiPrimio, Richard Jude Samulski, Matthew L. Hirsch
مصطلحات موضوعية: Male, viruses, Immunology, Mutant, Biology, medicine.disease_cause, Antibodies, Viral, Microbiology, Cell Line, Transduction (genetics), Gene Delivery, Mice, Capsid, Transduction, Genetic, Virology, Chlorocebus aethiops, medicine, Animals, Humans, Neutralizing antibody, Muscle, Skeletal, Adeno-associated virus, chemistry.chemical_classification, Mice, Inbred BALB C, Dependovirus, Molecular biology, Antibodies, Neutralizing, Amino acid, Immunity, Humoral, chemistry, Amino Acid Substitution, Insect Science, Humoral immunity, COS Cells, biology.protein, Female, Antibody
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af4af9695b465dd348aab73c86d422bd
https://europepmc.org/articles/PMC3421647/