المؤلفون: Arrant, Andrew E, Roth, Jonathan R, Boyle, Nicholas R, Kashyap, Shreya N, Hoffmann, Madelyn Q, Murchison, Charles F, Ramos, Eliana Marisa, Nana, Alissa L, Spina, Salvatore, Grinberg, Lea T, Miller, Bruce L, Seeley, William W, Roberson, Erik D

المصدر: Acta neuropathologica communications. 7(1)

مصطلحات موضوعية: Prefrontal Cortex, Neurons, Animals, Mice, Inbred C57BL, Mice, Knockout, Humans, Glucosylceramidase, Aged, Aged, 80 and over, Female, Male, Frontotemporal Dementia, HEK293 Cells, Loss of Function Mutation, Progranulins, Frontotemporal dementia, Glycosphingolipid, Lysosome, Neuronal Ceroid Lipofuscinosis, Progranulin, β-Glucocerebrosidase, beta-Glucocerebrosidase, Mice, Inbred C57BL, Knockout, and over, Biochemistry and Cell Biology, Clinical Sciences, Neurosciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1gv4n1bfTest

المؤلفون: Giulietta Maria Riboldi, Ricardo A. Vialle, Elisa Navarro, Evan Udine, Katia de Paiva Lopes, Jack Humphrey, Amanda Allan, Madison Parks, Brooklyn Henderson, Kelly Astudillo, Charalambos Argyrou, Maojuan Zhuang, Tamjeed Sikder, J. Oriol Narcis, Shilpa Dilip Kumar, William Janssen, Allison Sowa, Giacomo P. Comi, Alessio Di Fonzo, John F. Crary, Steven J. Frucht, Towfique Raj

المصدر: Molecular Neurodegeneration, Vol 17, Iss 1, Pp 1-17 (2022)

مصطلحات موضوعية: Parkinson’s disease, Monocytes, GBA, beta-glucocerebrosidase, Transcriptomic analysis, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1326Test

الوصول الحر: https://doaj.org/article/dbe17cf7cdea4ab8b6a5e2418d509f7cTest

المؤلفون: Sãcultanu, Mãdãlina

المساهمون: Canals, Isaac, Rodrigues, Maria Gabriela,1965-, Repositório da Universidade de Lisboa

مصطلحات موضوعية: (LSDs) Doença Lisossomal de Sobrecarga, (GD) Doença de Gaucher, (GCase) beta-glucocerebrosidase, (iPSCs) Células Estamiais Pluripotentes induzidas, CRISPR/Cas9, Teses de mestrado - 2020, Domínio/Área Científica::Ciências Naturais::Ciências Biológicas

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10451/48415Test

المؤلفون: Mahjouba Baiya, Hicham Yahyaoui, Imane El Khannouri, Ibtissam Mhirig, Mustapha Ait Ameur, Mohamed Chakour

المصدر: GSC Advanced Research and Reviews 11(1) 144–147

مصطلحات موضوعية: Gaucher Disease, Splenomegaly, Pancytopenia, Left-Handed Cells, Beta Glucocerebrosidase

العلاقة: https://zenodo.org/communities/gscarrTest; https://zenodo.org/record/6631169Test; https://doi.org/10.5281/zenodo.6631169Test; oai:zenodo.org:6631169

الإتاحة: https://doi.org/10.5281/zenodo.6631169Test
https://doi.org/10.30574/gscarr.2022.11.1.0105Test
https://doi.org/10.5281/zenodo.6631168Test
https://zenodo.org/record/6631169Test

المؤلفون: Riboldi, Giulietta Maria, Vialle, Ricardo A, Navarro, Elisa, Udine, Evan, de Paiva Lopes, Katia, Humphrey, Jack, Allan, Amanda, Parks, Madison, Henderson, Brooklyn, Astudillo, Kelly, Argyrou, Charalambos, Zhuang, Maojuan, Sikder, Tamjeed, Oriol Narcis, J, Kumar, Shilpa Dilip, Janssen, William, Sowa, Allison, Comi, Giacomo P, Di Fonzo, Alessio, Crary, John F, Frucht, Steven J, Raj, Towfique

المساهمون: G.M. Riboldi, R.A. Vialle, E. Navarro, E. Udine, K. de Paiva Lope, J. Humphrey, A. Allan, M. Park, B. Henderson, K. Astudillo, C. Argyrou, M. Zhuang, T. Sikder, J. Oriol Narci, S.D. Kumar, W. Janssen, A. Sowa, G.P. Comi, A. Di Fonzo, J.F. Crary, S.J. Frucht, T. Raj

مصطلحات موضوعية: GBA, Monocyte, Parkinson’s disease, Transcriptomic analysi, beta-glucocerebrosidase, Heterozygote, Human, Mutation, Transcriptome, Glucosylceramidase, Parkinson Disease, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35978378; info:eu-repo/semantics/altIdentifier/wos/WOS:000842090700001; volume:17; issue:1; firstpage:1; lastpage:17; numberofpages:17; journal:MOLECULAR NEURODEGENERATION; https://hdl.handle.net/2434/944646Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136010043

الإتاحة: https://doi.org/10.1186/s13024-022-00554-8Test
https://hdl.handle.net/2434/944646Test

المؤلفون: Ruz, Clara, Barrero Hernández, Francisco Javier, Pelegrina, Javier, Bandrés Ciga, Sara, Vives Montero, Francisco, Durán Ogalla, Raquel

مصطلحات موضوعية: Parkinson’s disease, Lysosomal dysfunction, Beta-glucocerebrosidase, PSAP, Cathepsin D

العلاقة: Ruz, C. [et al.]. Saposin C, Key Regulator in the Alpha-Synuclein Degradation Mediated by Lysosome. Int. J. Mol. Sci. 2022, 23, 12004. [https://doi.org/10.3390/ijms231912004Test]; https://hdl.handle.net/10481/77723Test

الإتاحة: https://doi.org/10.3390/ijms231912004Test
https://hdl.handle.net/10481/77723Test

المؤلفون: Ke Lei, Yanxia Zhao, Lirong Sun, Hui Liang, Ronghua Luo, Xiaojing Sun, Yanling Tao, Lijun Chen, Lingling Zhang, Aimin Li, Fu Li, Hongfang Ding

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Gaucher Disease, Beta glucocerebrosidase, Dried blood spot, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-018-0782-xTest; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/9e3c54d9db6a44fa89b016a18ca2ec8fTest

المؤلفون: Clara Ruz, Francisco J. Barrero, Javier Pelegrina, Sara Bandrés-Ciga, Francisco Vives, Raquel Duran

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 19; Pages: 12004

مصطلحات موضوعية: β-glucocerebrosidase, Beta-glucocerebrosidase, PSAP, Cathepsin D, Catalysis, Saposins, Inorganic Chemistry, Lysosomal dysfunction, Hexosaminidase B, Humans, Physical and Theoretical Chemistry, Molecular Biology, Spectroscopy, Organic Chemistry, Parkinson Disease, General Medicine, beta-Galactosidase, beta-N-Acetylhexosaminidases, Computer Science Applications, Mutation, alpha-Synuclein, Parkinson’s disease, Glucosylceramidase, Lysosomes, lysosomal dysfunction

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01483d01039bd9da64a45e1881b3b83fTest
https://hdl.handle.net/10481/77723Test

المؤلفون: Orme, T, Guerreiro, R, Bras, J

المصدر: Current Neurology and Neuroscience Reports , 18 (10) , Article 67. (2018)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology, Dementia with Lewy bodies, DLB, Genetics, GWAS, Next-generation sequencing, Genome-Wide Association, Alpha-Synuclein Gene, Familial Parkinsons-Disease, Beta-Glucocerebrosidase Activity, Alzheimers-Disease, Apolipoprotein-E, Body Disease, Frontotemporal Dementia, Locus Triplication, Gaucher-Disease

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10055017/1/10.1007_s11910-018-0874-y.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10055017Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10055017Test/

المؤلفون: Kallemeijn, Wouter W, Scheij, Saskia, Hoogendoorn, Sascha, Witte, Martin D, Herrera Moro Chao, Daniela, van Roomen, Cindy P A A, Ottenhoff, Roelof, Overkleeft, Herman S, Boot, Rolf G, Aerts, Johannes M F G

المصدر: Kallemeijn , W W , Scheij , S , Hoogendoorn , S , Witte , M D , Herrera Moro Chao , D , van Roomen , C P A A , Ottenhoff , R , Overkleeft , H S , Boot , R G & Aerts , J M F G 2017 , ' Investigations on therapeutic glucocerebrosidases through paired detection with fluorescent activity-based probes ' , PLoS ONE , vol. 12 , no. 2 , e0170268 . https://doi.org/10.1371/journal.pone.0170268Test

مصطلحات موضوعية: Journal Article, ENZYME REPLACEMENT THERAPY, TYPE-1 GAUCHER-DISEASE, MANNOSE-TERMINAL GLUCOCEREBROSIDASE, PLACENTAL BETA-GLUCOCEREBROSIDASE, LIVER ENDOTHELIAL-CELLS, RAT-LIVER, VELAGLUCERASE ALPHA, RECOMBINANT GLUCOCEREBROSIDASE, STORAGE DISEASES, IN-VIVO

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/d8222728-963a-449e-93a2-a3b576069b29Test

الإتاحة: https://doi.org/10.1371/journal.pone.0170268Test
https://hdl.handle.net/11370/d8222728-963a-449e-93a2-a3b576069b29Test
https://research.rug.nl/en/publications/d8222728-963a-449e-93a2-a3b576069b29Test
https://pure.rug.nl/ws/files/40562986/journal.pone.0170268.pdfTest