المؤلفون: Deegan, Patrick B., Goker-Alpan, Özlem, Geberhiwot, Tarekegn, Hopkin, Robert J., Lukina, Elena A., Tylki-Szymanska, Anna, Zaher, Atef, Sensinger, Charlotte H., Gaemers, Sebastiaan J.M., Modur, Vijay, Thurberg, Beth L., Sharma, Jyoti, Najafian, Behzad, Mauer, S. Michael, Dasmahapatra, Pronabesh, Wilcox, William Ross, Germain, Dominique Paul

المساهمون: Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), U54NS065768, Sanofi, Takeda Pharmaceutical Company, TPC, Rare Diseases Clinical Research Network, RDCRN, The authors received editorial/writing support in the preparation of this manuscript from Tom Rouwette (Excerpta Medica), Divya Parker, and Colin Glen (Lucid Group), funded by Sanofi, and from Hans Ebels of Sanofi. The authors were responsible for all content and editorial decisions., The studies were funded by Sanofi. The sponsor had a role in the study design, data analysis, and data interpretation. The EM work was also supported by a grant (MM and BN) from the National Institutes of Health Lysosomal Disease Network (U54NS065768), a part of the National Clinical Assessment and Treatment Service (NCATS) Rare Diseases Clinical Research Network (RDCRN). RDCRN is an initiative of the Office of Rare Diseases Research, NCATS, funded through a collaboration between NCATS, the National Institute of Neurological Disorders and Stroke (NINDS), and the National Institute of Diabetes and Digestive and Kidney Diseases., T.G. Has received research funding from Sanofi and Takeda.

المصدر: ISSN: 1096-7192.

مصطلحات موضوعية: Fabry disease, Glycosphingolipid synthesis, Lysosomal storage disorder, Substrate reduction therapy, Venglustat, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36481125; hal-04122475; https://hal.science/hal-04122475Test; https://hal.science/hal-04122475/documentTest; https://hal.science/hal-04122475/file/1-s2.0-S1096719222004322-main.pdfTest; PUBMED: 36481125

الإتاحة: https://doi.org/10.1016/j.ymgme.2022.11.002Test
https://hal.science/hal-04122475Test
https://hal.science/hal-04122475/documentTest
https://hal.science/hal-04122475/file/1-s2.0-S1096719222004322-main.pdfTest

المؤلفون: Gansevoort, Ronald T., Hariri, Ali, Minini, Pascal, Ahn, Curie, Chapman, Arlene B., Horie, Shigeo, Knebelmann, Bertrand, Mrug, Michal, Ong, Albert C.M., Pei, York P.C., Torres, Vicente E., Modur, Vijay, Antonshchuk, Igor, Perrone, Ronald D.

المصدر: Gansevoort , R T , Hariri , A , Minini , P , Ahn , C , Chapman , A B , Horie , S , Knebelmann , B , Mrug , M , Ong , A C M , Pei , Y P C , Torres , V E , Modur , V , Antonshchuk , I & Perrone , R D 2023 , ' Venglustat, a Novel Glucosylceramide Synthase Inhibitor, in Patients at Risk of Rapidly Progressing ADPKD : Primary Results of a Double-Blind, Placebo-Controlled, Phase 2/3 Randomized Clinical Trial ' , American Journal of Kidney Diseases ....

مصطلحات موضوعية: Autosomal dominant polycystic kidney disease (ADPKD), cysts, eGFR decline, estimated glomerular filtration rate (eGFR), glucosylceramide (GL-1), randomized clinical trial (RCT), renal function, total kidney volume (TKV), venglustat

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/2524f3fb-67b7-4b6a-84d7-08d0fa5f43adTest

الإتاحة: https://doi.org/10.1053/j.ajkd.2022.10.016Test
https://hdl.handle.net/11370/2524f3fb-67b7-4b6a-84d7-08d0fa5f43adTest
https://research.rug.nl/en/publications/2524f3fb-67b7-4b6a-84d7-08d0fa5f43adTest
https://pure.rug.nl/ws/files/689970665/1_s2.0_S0272638622010794_main.pdfTest

المؤلفون: Youchao Deng (4813605), Guangping Dong (6519866), Ying Meng (327793), Nicholas Noinaj (216256), Rong Huang (298496)

مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Molecular Biology, Pharmacology, Cancer, Chemical Sciences not elsewhere classified, vivo chemical probe, displays improved potency, terminal methyltransferase 1, 27 ± 1, venglustat across biochemical, ntmt1 catalytic activity, gd433 , 50 , 1 nm, valuable tools, protein n, pharmacological roles, pharmacological potentials, pharmacological functions, nα methylation, ntmt1 inhibition, negative control, like inhibitors, guided optimization, first ntmt1, elucidated due, cervical cancer, cellular assays

العلاقة: https://figshare.com/articles/journal_contribution/Structure_Activity_Relationship_Studies_of_Venglustat_on_NTMT1_Inhibition/21892723Test

الإتاحة: https://doi.org/10.1021/acs.jmedchem.2c01854.s001Test

المؤلفون: Ronald D. Perrone, Ali Hariri, Pascal Minini, Curie Ahn, Arlene B. Chapman, Shigeo Horie, Bertrand Knebelmann, Michal Mrug, Albert C.M. Ong, York P.C. Pei, Vicente E. Torres, Vijay Modur, Ronald T. Gansevoort

المصدر: Kidney Medicine, Vol 4, Iss 10, Pp 100538- (2022)

مصطلحات موضوعية: Autosomal dominant polycystic kidney disease, modeling, study design, total kidney volume, venglustat, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2590059522001601Test; https://doaj.org/toc/2590-0595Test

الوصول الحر: https://doaj.org/article/66ff3b0e6417477da59ccf6a9cdbba1dTest

المؤلفون: Perrone, Ronald D., Hariri, Ali, Minini, Pascal, Ahn, Curie, Chapman, Arlene B., Horie, Shigeo, Knebelmann, Bertrand, Mrug, Michal, Ong, Albert C.M., Pei, York P.C., Torres, Vicente E., Modur, Vijay, Gansevoort, Ronald T.

المصدر: Perrone , R D , Hariri , A , Minini , P , Ahn , C , Chapman , A B , Horie , S , Knebelmann , B , Mrug , M , Ong , A C M , Pei , Y P C , Torres , V E , Modur , V & Gansevoort , R T 2022 , ' The STAGED-PKD 2-Stage Adaptive Study With a Patient Enrichment Strategy and Treatment Effect Modeling for Improved Study Design Efficiency in Patients With ADPKD ' , Kidney Medicine , vol. 4 , no. 10 , 100538 . https://doi.org/10.1016/j.xkme.2022.100538Test

مصطلحات موضوعية: Autosomal dominant polycystic kidney disease, modeling, study design, total kidney volume, venglustat

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/585bc9c3-51ca-46ee-bcef-d8e9a7fa2a45Test

الإتاحة: https://doi.org/10.1016/j.xkme.2022.100538Test
https://hdl.handle.net/11370/585bc9c3-51ca-46ee-bcef-d8e9a7fa2a45Test
https://research.rug.nl/en/publications/585bc9c3-51ca-46ee-bcef-d8e9a7fa2a45Test
https://pure.rug.nl/ws/files/259088371/1_s2.0_S2590059522001601_main.pdfTest

المؤلفون: Schiffmann, Raphael, Cox, Timothy M, Dedieu, Jean-François, Gaemers, Sebastiaan JM, Hennermann, Julia B, Ida, Hiroyuki, Mengel, Eugen, Minini, Pascal, Mistry, Pramod, Musholt, Petra B, Scott, David, Sharma, Jyoti, Peterschmitt, M Judith

مصطلحات موضوعية: CNS, Gaucher disease type 3, glycosphingolipids, substrate reduction therapy, venglustat, Humans, Adult, Glucosylceramidase, Gaucher Disease, Glucosylceramides, Chronic Disease, Biomarkers, Nervous System Diseases, Ataxia

وصف الملف: Print-Electronic; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/342736Test

الإتاحة: https://doi.org/10.17863/CAM.90149Test
https://www.repository.cam.ac.uk/handle/1810/342736Test

المؤلفون: Peterschmitt, M Judith, Saiki, Hidemoto, Alcalay, Roy N, Cutter, Gary, Hattori, Nobutaka, Höglinger, Günter U, Marek, Kenneth, Schapira, Anthony H V, Scherzer, Clemens R, Simuni, Tanya, Giladi, Nir, Sardi, Sergio Pablo, Hatano, Taku, Fischer, Tanya Z, Investigators, MOVES-PD, Gasser, Thomas, Isaacson, Stuart H, Gaemers, Sebastiaan J M, Minini, Pascal, Saubadu, Stéphane, Sharma, Jyoti, Walbillic, Samantha

المصدر: Journal of Parkinson's Disease 12(2), 557 - 570 (2022). doi:10.3233/JPD-212714

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adolescent, Adult, Aged, 80 and over, Enzyme Inhibitors: adverse effects, Glucosylceramidase: genetics, Glucosylceramides, Humans, Middle Aged, Mutation, Parkinson Disease: drug therapy, Parkinson Disease: genetics, Young Adult, GBA-PD, MOVES-PD, Parkinson’s disease, Venglustat (GZ/SAR402671), glucocerebrosidase gene (GBA), glucosylceramide (GL-1), glucosylceramide synthase (GCS) inhibition

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/1877-718X; info:eu-repo/semantics/altIdentifier/pmid/pmid:34897099; info:eu-repo/semantics/altIdentifier/issn/1877-7171; https://pub.dzne.de/record/163390Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-00152%22Test

الإتاحة: https://doi.org/10.3233/JPD-212714Test
https://pub.dzne.de/record/163390Test
https://pub.dzne.de/search?p=id:%22DZNE-2022-00152%22Test

المؤلفون: Schiffmann, Raphael, Mengel, Eugen, Wallace, Mary, Rochmann, Camille, Turnbull, James, Krupnick, Robert, Gwaltney, Chad, Pulikottil-Jacob, Ruth, Batsu, Isabela, Zheng, Riliang, Hamed, Alaa

المصدر: Adv Ther ; ISSN:1865-8652 ; Volume:41 ; Issue:7

مصطلحات موضوعية: Caregiver experience, Case study, Gaucher disease type 3, Patient experience, Perception, Qualitative study, Quality of life, Venglustat

العلاقة: https://doi.org/10.1007/s12325-024-02881-2Test; https://pubmed.ncbi.nlm.nih.gov/38802634Test

الإتاحة: https://doi.org/10.1007/s12325-024-02881-2Test
https://pubmed.ncbi.nlm.nih.gov/38802634Test

المؤلفون: Juan Sebastian Valencia Quintero, Diana Castillo

المصدر: Interdisciplinary Journal of Epidemiology and Public Health, Vol 3, Iss 2 (2021)

مصطلحات موضوعية: enfermedad poliquística renal autosómica dominante, adpkd, enfermedad poliquística renal, tolvaptan, antagonistas receptores v2, venglustat, inhibidor de la glucosilceramida sintasa, acetato de lanreotida, análogo de somatostatina, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

العلاقة: https://revistas.unilibre.edu.co/index.php/iJEPH/article/view/7246Test; https://doaj.org/toc/2665-427XTest

الوصول الحر: https://doaj.org/article/f927f63ea18e438e9b5b72e52a0ee3adTest

المؤلفون: Valencia Quintero, Juan Sebastian, Castillo, Diana

المصدر: Interdisciplinary Journal of Epidemiology and Public Health; Vol. 3 No. 2 (2020); e-7246 ; Interdisciplinary Journal of Epidemiology and Public Health; Vol. 3 Núm. 2 (2020); e-7246 ; 2665-427X

مصطلحات موضوعية: enfermedad poliquística renal autosómica dominante, ADPKD, enfermedad poliquística renal, Tolvaptan, antagonistas receptores V2, Venglustat, inhibidor de la glucosilceramida sintasa, acetato de lanreotida, análogo de somatostatina, Autosomal dominant polycystic kidney disease, polycystic kidney disease, V2 receptor antagonists, glucosylceramide synthase inhibitor, lanreotide acetate, somatostatin analog

وصف الملف: application/pdf

العلاقة: https://revistas.unilibre.edu.co/index.php/iJEPH/article/view/7246/6441Test; https://revistas.unilibre.edu.co/index.php/iJEPH/article/view/7246Test

الإتاحة: https://doi.org/10.18041/2665-427X/ijeph.2.7246Test
https://revistas.unilibre.edu.co/index.php/iJEPH/article/view/7246Test