المؤلفون: Yanyan Peng, Benjamin Liou, Yi Lin, Christopher N. Mayhew, Sheila M. Fleming, Ying Sun

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 29, Iss , Pp 185-201 (2023)

مصطلحات موضوعية: cell therapy, neuronopathic Gaucher disease, Parkinson disease, neurodegeneration, neural precursor cell, acid β-glucosidase, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050123000438; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/52aaf75278eb4cae9ea6f54af7a3ab3d

المؤلفون: Schidlitzki, Alina, Stanojlovic, Milos, Fournier, Céline, Käufer, Christopher, Feja, Malte, Gericke, Birthe, Garzotti, Marco, Welford, Richard W. D., Steiner, Michel Alexander, Angot, Elodie, Richter Assêncio, Franziska

مصطلحات موضوعية: article, ddc:630, Hochschulbibliographie allgemein, Verzeichnis wissenschaftlicher Veröffentlichungen, Substantia Nigra, Animals, Mice, Transgenic, Parkinson Disease, Disease Models, Animal, alpha-Synuclein, Synucleinopathies, Cognition, Parkinson's Disease, α-synuclein, neuroprotection, Motor Behavior, Acid-β-glucosidase

Time: 2023

Relation: Movement disorders -- Mov Disord -- 2041249-6 -- 1531-8257; https://doi.org/10.1002/mds.29398; https://elib.tiho-hannover.de/receive/tiho_mods_00010902; https://elib.tiho-hannover.de/servlets/MCRFileNodeServlet/tiho_derivate_00002738/Movement%20Disorders%20-%202023%20-%20Schidlitzki%20-%20Double‐Edged%20Effects%20of%20Venglustat%20on%20Behavior%20and%20Pathology%20in%20Mice.pdf

الاتاحة: https://doi.org/10.1002/mds.29398
https://elib.tiho-hannover.de/receive/tiho_mods_00010902
https://elib.tiho-hannover.de/servlets/MCRFileNodeServlet/tiho_derivate_00002738/Movement%20Disorders%20-%202023%20-%20Schidlitzki%20-%20Double‐Edged%20Effects%20of%20Venglustat%20on%20Behavior%20and%20Pathology%20in%20Mice.pdf
https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.29398

المؤلفون: Wei-De Lin, Fuu-Jen Tsai

المصدر: Biomedicine Hub, Vol 6, Iss 3, Pp 138-144 (2021)

مصطلحات موضوعية: multiple myeloma, glucocerebrosidase, acid β-glucosidase, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.karger.com/Article/FullText/519704; https://doaj.org/toc/2296-6870

URL الوصول: https://doaj.org/article/8e45d356860e48b28af3b648a0261fcc

المساهمون: Young Rok Do, Yunsuk Choi, Mi Hwa Heo, Jin Seok Kim, Jae-Ho Yoon, Je-Hwan Lee, Joon Seong Park, Sang Kyun Sohn, Sung Hyun Kim, Sungnam Lim, Joo Seop Chung, Deog-Yeon Jo, Hyeon Seok Eom, Hawk Kim, So Yeon Jeon, Jong-Ho Won, Hee Jeong Lee, Jung Won Shin, Jun-Ho Jang, Sung-Soo Yoon, Kim, Jin Seok

مصطلحات موضوعية: Acid β-glucosidase, Dried blood spot, Gaucher disease, Lysosomal storage disorder, Splenomegaly, Thrombocytopenia

Relation: BLOOD RESEARCH; J00346; OAK-2023-00383; https://ir.ymlib.yonsei.ac.kr/handle/22282913/193838; T9992022810; BLOOD RESEARCH, Vol.57(3) : 207-215, 2022-09

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/193838
https://doi.org/10.5045/br.2022.2022089

المؤلفون: Richter, Franziska, Fleming, Sheila M, Watson, Melanie, Lemesre, Vincent, Pellegrino, Lee, Ranes, Brian, Zhu, Chunni, Mortazavi, Farzad, Mulligan, Caitlin K, Sioshansi, Pedrom C, Hean, Sindalana, De La Rosa, Krystal, Khanna, Richie, Flanagan, John, Lockhart, David J, Wustman, Brandon A, Clark, Sean W, Chesselet, Marie-Françoise

المصدر: Neurotherapeutics. 11(4)

مصطلحات موضوعية: Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Parkinson's Disease, Aging, Neurodegenerative, Genetics, Neurosciences, Brain Disorders, 2.1 Biological and endogenous factors, 5.1 Pharmaceuticals, Neurological, Animals, Brain, Disease Models, Animal, Dopaminergic Neurons, Humans, Imino Pyranoses, Male, Mice, Motor Activity, Parkinson Disease, Protein Aggregates, Protein Transport, Substantia Nigra, Tartrates, alpha-Synuclein, beta-Glucosidase, Parkinson's disease, Alpha-synuclein, Acid-beta-glucosidase, Mouse model, Chaperone, Motor behavior, Acid-β-glucosidase, Public Health and Health Services, Neurology & Neurosurgery, Pharmacology and pharmaceutical sciences, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2pp460nv
https://escholarship.org/content/qt2pp460nv/qt2pp460nv.pdf

المؤلفون: M. Judith Peterschmitt, Selena Freisens, Lisa H. Underhill, Meredith C. Foster, Grace Lewis, Sebastiaan J. M. Gaemers

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)

مصطلحات موضوعية: Gaucher disease type 1, Acid β-glucosidase deficiency, Eliglustat, Cerdelga, Substrate reduction therapy, Safety, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1085-6; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/1a7c6cc74994420bad517ed4fc512db9

المؤلفون: Ying Sun, Benjamin Liou, Zhengtao Chu, Venette Fannin, Rachel Blackwood, Yanyan Peng, Gregory A. Grabowski, Harold W. Davis, Xiaoyang Qi

المصدر: EBioMedicine, Vol 55, Iss , Pp - (2020)

مصطلحات موضوعية: Neurodegenerative disease, Central nervous system, SapC-DOPS nanovesicles, Enzyme replacement therapy, Neuronopathic Gaucher disease, Acid-β-glucosidase, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396420301109; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/c3f9ab807f314117a86a23d2d81c4958

المؤلفون: Pavan E., Ormazabal M., Peruzzo P., Vaena E., Rozenfeld P., Dardis A.

المساهمون: Pavan, E., Ormazabal, M., Peruzzo, P., Vaena, E., Rozenfeld, P., Dardis, A.

مصطلحات موضوعية: Acid β-glucosidase, Cellular model, CRISPR/Cas9, Gaucher disease, High-throughput drug screening, Neuroinflammation, Unfolded protein response, α-synuclein

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000535581700239; volume:21; issue:9; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11390/1191853; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084403705

الاتاحة: http://hdl.handle.net/11390/1191853
https://doi.org/10.3390/ijms21093268

المؤلفون: Pavan, Eleonora, Ormazabal, Maximiliano Emanuel, Peruzzo, Paolo, Vaena, Emilio, Rozenfeld, Paula Adriana, Dardis, Andrea

مصطلحات موضوعية: Biología, Gaucher disease, Cellular model, Acid β-glucosidase, Crispr/cas9, Unfolded protein response, Neuroinflammation, Α-synuclein, High-throughput drug screenings

وصف الملف: application/pdf

Relation: http://sedici.unlp.edu.ar/handle/10915/107275

الاتاحة: http://sedici.unlp.edu.ar/handle/10915/107275

المؤلفون: Ekram Fateen, Zeinab Y. Abdallah

المصدر: Heliyon, Vol 5, Iss 10, Pp e02574- (2019)

مصطلحات موضوعية: Metabolism, Biochemistry, Chitotriosidase, Experience., Gaucher disease, Acid β-glucosidase, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844019362346; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/f2d53f719989471a896bd9b8d7b1f17f

المؤلفون: Jennifer Ibrahim, Lisa H. Underhill, John S. Taylor, Jennifer Angell, M. Judith Peterschmitt

المصدر: Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 17-19 (2016)

مصطلحات موضوعية: Gaucher disease type 1, Eliglustat, Substrate reduction therapy, Acid-β-glucosidase deficiency, Imiglucerase, Enzyme replacement therapy, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426916300428; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/234bc04d970345ca83f2a6dd5602780c

المؤلفون: Vardi, A, Zigdon, H, Meshcheriakova, A, Klein, AD, Yaacobi, C, Eilam, R, Kenwood, BM, Rahim, AA, Massaro, G, Merrill, AH, Vitner, EB, Futerman, AH

المصدر: The Journal of Pathology , 239 (4) pp. 496-509. (2016)

مصطلحات موضوعية: Gaucher disease, Parkinson's disease, acid β-glucosidase, glucosylceramide, glucosylsphingosine, neuroinflammation, neuropathology

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1498984/1/Vardi%20et%20al%202016%20Delineating%20pathological%20pathways%20in%20a%20chemically-induced%20mouse%20model%20of%20Gaucher%20disease.pdf; https://discovery.ucl.ac.uk/id/eprint/1498984/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1498984/1/Vardi%20et%20al%202016%20Delineating%20pathological%20pathways%20in%20a%20chemically-induced%20mouse%20model%20of%20Gaucher%20disease.pdf
https://discovery.ucl.ac.uk/id/eprint/1498984/

المؤلفون: Fuu-Jen Tsai, Wei-De Lin

المصدر: Biomed Hub
Biomedicine Hub, Vol 6, Iss 3, Pp 138-144 (2021)

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Medicine (General), business.industry, glucocerebrosidase, Case-control study, medicine.disease, Genetic analysis, multiple myeloma, R5-920, acid β-glucosidase, Internal medicine, Cohort, medicine, General Earth and Planetary Sciences, In patient, business, β glucosidase, Multiple myeloma, General Environmental Science, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::634539c20359904ac4321d3bcb56a111
https://pubmed.ncbi.nlm.nih.gov/35083226

المؤلفون: Emilio Vaena, Eleonora Pavan, Paolo Peruzzo, Paula Rozenfeld, Maximiliano Ormazabal, Andrea Dardis

المصدر: International Journal of Molecular Sciences, Vol 21, Iss 3268, p 3268 (2020)
International Journal of Molecular Sciences
Volume 21
Issue 9
SEDICI (UNLP)
Universidad Nacional de La Plata
instacron:UNLP
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

مصطلحات موضوعية: genetic structures, Biología, Mutant, Gene Expression, Gaucher disease, Monocytes, Cellular model, purl.org/becyt/ford/1 [https], lcsh:Chemistry, Unfolded protein response, Neuroinflammation, CRISPR, lcsh:QH301-705.5, Spectroscopy, Gene Editing, Chemistry, Α-synuclein, Endoplasmic Reticulum-Associated Degradation, General Medicine, Endoplasmic Reticulum Stress, Computer Science Applications, Acid β-glucosidase, CRISPR/Cas9, High-throughput drug screenings, α-synuclein, Glucosylceramidase, Disease Susceptibility, Inflammation Mediators, Programmed cell death, congenital, hereditary, and neonatal diseases and abnormalities, Models, Biological, Article, Catalysis, Cell Line, Inorganic Chemistry, Humans, Physical and Theoretical Chemistry, purl.org/becyt/ford/1.6 [https], Molecular Biology, Gene, Organic Chemistry, nutritional and metabolic diseases, Crispr/cas9, Molecular biology, eye diseases, nervous system diseases, lcsh:Biology (General), lcsh:QD1-999, Cell culture, Mutation, CRISPR-Cas Systems, Biomarkers

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae73a98255c8fd010370afcf9ad1bc1f
http://hdl.handle.net/11390/1191853

المؤلفون: Amal El-Beshlawy, Ana Maria Martins, Renata Cravo, Sebastiaan J.M. Gaemers, M. Judith Peterschmitt, Guillermo Drelichman, Timothy M. Cox, Ozlem Goker-Alpan, Elena Lukina, Barry E. Rosenbloom, Manisha Balwani, Thomas A. Burrow, Regina Tayag, Maria Lucia Alves Pedroso, Priya S. Kishnani, Nora Watman

المساهمون: Cox, Timothy [0000-0002-4951-9941], Apollo - University of Cambridge Repository

مصطلحات موضوعية: Male, 0301 basic medicine, Pyrrolidines, Clinical Trials and Observations, Administration, Oral, Phases of clinical research, Biochemistry, law.invention, 0302 clinical medicine, Randomized controlled trial, Bone Density, law, Femur, Enzyme Inhibitors, Lumbar Vertebrae, Gaucher disease type 1, eliglustat, Hematology, Enzyme replacement therapy, Middle Aged, Recombinant Proteins, substrate reduction therapy, Liver, 030220 oncology & carcinogenesis, Glucosylceramidase, Female, Eliglustat, medicine.drug, enzyme replacement therapy, Adult, medicine.medical_specialty, Imiglucerase, Immunology, 03 medical and health sciences, imiglucerase, Internal medicine, medicine, Humans, Substrate reduction therapy, Adverse effect, acid β-glucosidase deficiency, Gaucher Disease, Platelet Count, business.industry, Cell Biology, Surgery, Clinical trial, 030104 developmental biology, business, Spleen

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e29f459cc07cfd59247d00312a84f24d

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9efd5833a91243954673e6041ea0a90d
https://doi.org/10.1007/s13311-014-0294-x

المؤلفون: Cox, TM, Drelichman, G, Cravo, R, Balwani, M, Burrow, TA, Martins, AM, Lukina, E, Rosenbloom, B, Goker-Alpan, O, Watman, N, El-Beshlawy, A, Kishnani, PS, Pedroso, ML, Gaemers, SJM, Tayag, R, Peterschmitt, MJ

مصطلحات موضوعية: Gaucher disease type 1, eliglustat, substrate reduction therapy, acid β-glucosidase deficiency, imiglucerase, enzyme replacement therapy

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/263735

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/263735
https://doi.org/10.17863/CAM.9100

المؤلفون: Elsa Avila Arreguin, Jennifer Angell, Gregory M Pastores, Nora Watman, Elena Lukina, Ana Cristina Puga, Leorah Ross, Marta Dragosky, Judith Peterschmitt, Hanna Rosenbaum, Ari Zimran

المصدر: Blood Cells, Molecules, and Diseases. 53(4):274-276

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pyrrolidines, Adolescent, Glucosylceramides, Gastroenterology, Hemoglobins, Bone Density, Bone Marrow, Internal medicine, medicine, G(M3) Ganglioside, Humans, Femur, Substrate reduction therapy, Platelet, Enzyme Inhibitors, Adverse effect, Molecular Biology, Eliglustat, Bone mineral, Gaucher Disease, Lumbar Vertebrae, business.industry, Platelet Count, Gaucher disease type 1, Drugs, Investigational, Cell Biology, Hematology, Middle Aged, Surgery, medicine.anatomical_structure, Hexosaminidases, Chemokines, CC, Molecular Medicine, Female, Bone marrow, Hemoglobin, business, Acid β-glucosidase deficiency, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c2006b2c94fa124a31c33fd9455cefe

المؤلفون: S. Fontao Mas, Carmen Ayuso, R. de Nicolas, Camilo Vélez-Monsalve, J. Gallego-Merlo, N.V. Ortiz-Cabrera, María José Trujillo-Tiebas

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Genetic counseling, Spanish Gaucher disease, Gaucher disease, medicine.disease_cause, GBA, acid β-glucosidase, Gastroenterology, Genetic analysis, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Endocrinology, Internal medicine, Gene duplication, Genotype, Genetics, medicine, Allele, Molecular Biology, Chitotriosidase, Sanger sequencing, Mutation, business.industry, GBA gene, GD, Gaucher disease, Enzyme replacement therapy, ERT, enzyme replacement therapy, 030104 developmental biology, FJD, Fundación Jiménez Díaz, symbols, business, 030217 neurology & neurosurgery, Research Paper

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61c9af735696f0d3109af0c441e44e30
https://hdl.handle.net/20.500.12530/24427

المؤلفون: PACIOTTI, SILVIA, PERSICHETTI, EMANUELE, Pagliardini S., Deganuto M., Rosano C., BALDUCCI, CHIARA, CODINI, Michela, Filocamo M., MENGHINI, Anna Rita, Pagliardini V., Pasqui S., Bembi B., dardis A., BECCARI, Tommaso

المساهمون: Paciotti, Silvia, Persichetti, Emanuele, Pagliardini, S., Deganuto, M., Rosano, C., Balducci, Chiara, Codini, Michela, Filocamo, M., Menghini, Anna Rita, Pagliardini, V., Pasqui, S., Bembi, B., Dardis, A., Beccari, Tommaso

مصطلحات موضوعية: Acid α-galactosidase, Acid β-glucosidase, α-Glucosidase, α-l-Iduronidase, Lysosomal storage disease, Newborn screening

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000308844700005; volume:413; issue:23-24; firstpage:1827; lastpage:1831; numberofpages:5; journal:CLINICA CHIMICA ACTA; https://hdl.handle.net/11391/962781; https://www.sciencedirect.com/science/article/pii/S0009898112003506?via=ihub

الاتاحة: https://hdl.handle.net/11391/962781
https://doi.org/10.1016/j.cca.2012.07.011
https://www.sciencedirect.com/science/article/pii/S0009898112003506?via=ihub