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

Relation: https://www.mdpi.com/2073-4409/10/3/630; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/1a3b960c9e94479e8bff3c7edfa4213b

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

Relation: https://www.mdpi.com/1422-0067/21/19/7397; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/b05486b489c04ddb99d91b742689da42

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

Relation: https://www.mdpi.com/2077-0383/8/9/1420; https://doaj.org/toc/2077-0383

URL الوصول: https://doaj.org/article/5fd6fa9488374b24905aed87531c0329

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 3

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e65edf09f484327f8f31aa116c442131
https://www.mdpi.com/2073-4409/10/3/630

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89cc5486335a2185a8066231a0006adc

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

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: 1420

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92d8e58d52197c282cb28b6f354aee83
https://www.mdpi.com/2077-0383/8/9/1420

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3207c5e274536a9a94974c882b942ba8
https://doi.org/10.1016/j.bcmd.2016.10.025

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

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::218f74b52b3c8361eb63892e6889a323
https://doi.org/10.1016/j.ymgme.2018.12.068