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1دورية أكاديمية
المؤلفون: Or Cabasso, Sumit Paul, Gali Maor, Metsada Pasmanik-Chor, Wouter Kallemeijn, Johannes Aerts, Mia Horowitz
المصدر: Cells, Vol 10, Iss 3, p 630 (2021)
مصطلحات موضوعية: GBA1, acid β-glucocerebrosidase, Gaucher disease, unfolded protein response, inflammation, Cytology, QH573-671
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Hila Braunstein, Maria Papazian, Gali Maor, Jan Lukas, Arndt Rolfs, Mia Horowitz
المصدر: International Journal of Molecular Sciences, Vol 21, Iss 19, p 7397 (2020)
مصطلحات موضوعية: Fabry disease 1, misfolding 2, UPR 3, ERAD 4, migalastat 5, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Or Cabasso, Sumit Paul, Orly Dorot, Gali Maor, Olga Krivoruk, Metsada Pasmanik-Chor, Mina Mirzaian, Maria Ferraz, Johannes Aerts, Mia Horowitz
المصدر: Journal of Clinical Medicine, Vol 8, Iss 9, p 1420 (2019)
مصطلحات موضوعية: Gaucher disease, glucocerebrosidase, GlcCer, GlcSph, inflammation, unfolded protein response, Medicine
وصف الملف: electronic resource
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4
المؤلفون: Gali Maor, Sumit Paul, Johannes M. F. G. Aerts, Or Cabasso, Mia Horowitz, Wouter W. Kallemeijn, Metsada Pasmanik-Chor
المصدر: Cells, Vol 10, Iss 630, p 630 (2021)
Cells, 10(3). MDPI} {AG
Cells
Volume 10
Issue 3مصطلحات موضوعية: 0301 basic medicine, Programmed cell death, Mutant, fungi, Midgut, General Medicine, Gaucher disease, unfolded protein response, Endoplasmic-reticulum-associated protein degradation, Biology, biology.organism_classification, Cell biology, 03 medical and health sciences, GBA1, 030104 developmental biology, 0302 clinical medicine, Downregulation and upregulation, lcsh:Biology (General), inflammation, Unfolded protein response, Drosophila melanogaster, Gene, lcsh:QH301-705.5, 030217 neurology & neurosurgery, acid β-glucocerebrosidase
وصف الملف: application/pdf
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5
المؤلفون: Gali Maor, Maria Papazian, Jan Lukas, Arndt Rolfs, Mia Horowitz, Hila Braunstein
المصدر: International Journal of Molecular Sciences
Volume 21
Issue 19
International Journal of Molecular Sciences, Vol 21, Iss 7397, p 7397 (2020)مصطلحات موضوعية: UPR 3, Protein Folding, genetic structures, Fluorescent Antibody Technique, Endoplasmic Reticulum, misfolding 2, lcsh:Chemistry, Animals, Genetically Modified, chemistry.chemical_compound, Migalastat, ERAD 4, migalastat 5, lcsh:QH301-705.5, Spectroscopy, Fabry disease 1, biology, Cell Death, Chemistry, Brain, ER retention, General Medicine, Endoplasmic Reticulum-Associated Degradation, Computer Science Applications, Cell biology, Pharmacological chaperone, Drosophila melanogaster, lipids (amino acids, peptides, and proteins), hormones, hormone substitutes, and hormone antagonists, medicine.drug, 1-Deoxynojirimycin, Cell Survival, Globotriaosylceramide, Endoplasmic-reticulum-associated protein degradation, Catalysis, Article, Inorganic Chemistry, medicine, Animals, cardiovascular diseases, Physical and Theoretical Chemistry, Molecular Biology, Endoplasmic reticulum, Dopaminergic Neurons, Organic Chemistry, nutritional and metabolic diseases, lcsh:Biology (General), lcsh:QD1-999, Chaperone (protein), alpha-Galactosidase, biology.protein, Unfolded protein response, Unfolded Protein Response, Fabry Disease, Lysosomes
وصف الملف: application/pdf
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6
المؤلفون: Sumit Paul, Or Cabasso, Mia Horowitz, Gali Maor, Orly Dorot, Johannes M. F. G. Aerts
مصطلحات موضوعية: Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Immunology, Genetics, medicine, Inflammation, Neuronopathic Gaucher Disease, medicine.symptom, business, Molecular Biology, Biochemistry
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5af8e8d9abda924b1cc5d33f16762740
https://hdl.handle.net/1887/3142314 -
7
المؤلفون: Orly Dorot, Or Cabasso, Johannes M. F. G. Aerts, Gali Maor, Metsada Pasmanik-Chor, Mina Mirzaian, Sumit Paul, Maria J. Ferraz, Mia Horowitz, Olga Krivoruk
المصدر: Journal of Clinical Medicine, Vol 8, Iss 9, p 1420 (2019)
Journal of Clinical Medicine
Journal of Clinical Medicine, 8(9), 1420. MDPI
Journal of Clinical Medicine; Volume 8; Issue 9; Pages: 1420مصطلحات موضوعية: Mutant, lcsh:Medicine, GlcSph, Gaucher disease, Article, 03 medical and health sciences, 0302 clinical medicine, Mutant protein, Medicine, Gene, Neuroinflammation, 030304 developmental biology, 0303 health sciences, glucocerebrosidase, GlcCer, inflammation, unfolded protein response, biology, business.industry, fungi, lcsh:R, General Medicine, biology.organism_classification, Phenotype, Cell biology, Unfolded protein response, Drosophila melanogaster, business, Glucocerebrosidase, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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8
المؤلفون: Mia Horowitz, Gaya Chicco, Gali Maor, Ari Zimran, Hila Braunstein, Mirella Filocamo
المصدر: Blood Cells, Molecules, and Diseases. 68:21-29
مصطلحات موضوعية: Transcriptional Activation, 0301 basic medicine, Mutant, Gaucher disease, UPR, Biology, CHOP, 03 medical and health sciences, 0302 clinical medicine, Downregulation and upregulation, Transcription (biology), Humans, Promoter Regions, Genetic, Molecular Biology, Gene, Transcription factor, Cells, Cultured, glucocerebrosidase, Endoplasmic reticulum, Cell Biology, Hematology, Fibroblasts, Molecular biology, 030104 developmental biology, Mutation, Unfolded Protein Response, Unfolded protein response, Glucosylceramidase, Molecular Medicine, Transcription Factor CHOP, 030217 neurology & neurosurgery
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9
المؤلفون: Mia Horowitz, Gali Maor, Debora Rapaport
المصدر: Human molecular genetics. 28(11)
مصطلحات موضوعية: Heterozygote, animal diseases, Population, Mutant, Substantia nigra, Biology, Protein aggregation, medicine.disease_cause, Protein Aggregation, Pathological, Animals, Genetically Modified, Genetics, medicine, Animals, Humans, education, Molecular Biology, Pars Compacta, Genetics (clinical), education.field_of_study, Mutation, Gaucher Disease, Pars compacta, Dopaminergic Neurons, Parkinson Disease, General Medicine, Transfection, nervous system diseases, Cell biology, Disease Models, Animal, Drosophila melanogaster, nervous system, Gene Expression Regulation, alpha-Synuclein, Glucosylceramidase, Lewy Bodies, Heterologous expression, Lysosomes
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9193bc7eec55b932a081c333e95fd782
https://pubmed.ncbi.nlm.nih.gov/30615125 -
10
المؤلفون: Sumit Paul, Mina Mirzaian, Hans Aerts, Gali Maor, Orly Dorot, Mia Horowitz, Or Cabasso
المصدر: Molecular Genetics and Metabolism. 126:S35
مصطلحات موضوعية: Genetics, Endocrinology, biology, Endocrinology, Diabetes and Metabolism, Disease, Drosophila melanogaster, biology.organism_classification, Molecular Biology, Biochemistry