Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Federico Bertoli"'
Autor:
Pascale Baden, Maria Jose Perez, Hariam Raji, Federico Bertoli, Stefanie Kalb, María Illescas, Fokion Spanos, Claudio Giuliano, Alessandra Maria Calogero, Marvin Oldrati, Hannah Hebestreit, Graziella Cappelletti, Kathrin Brockmann, Thomas Gasser, Anthony H. V. Schapira, Cristina Ugalde, Michela Deleidi
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
GBA1 mutations cause Gaucher’s disease and are the strongest risk factor for Parkinson’s disease. Using stable cell lines and patient iPSCs, the authors show mitochondrial localization of GBA1, which may affect neurodegenerative disease risk.
Externí odkaz:
https://doaj.org/article/761b2e45e4dd4fa280b1024c64572ba2
Autor:
Maria Kedariti, Emanuele Frattini, Pascale Baden, Susanna Cogo, Laura Civiero, Elena Ziviani, Gianluca Zilio, Federico Bertoli, Massimo Aureli, Alice Kaganovich, Mark R. Cookson, Leonidas Stefanis, Matthew Surface, Michela Deleidi, Alessio Di Fonzo, Roy N. Alcalay, Hardy Rideout, Elisa Greggio, Nicoletta Plotegher
Publikováno v:
npj Parkinson's Disease, Vol 8, Iss 1, Pp 1-14 (2022)
Abstract Leucine-rich repeat kinase 2 (LRRK2) is a kinase involved in different cellular functions, including autophagy, endolysosomal pathways, and immune function. Mutations in LRRK2 cause autosomal-dominant forms of Parkinson’s disease (PD). Het
Externí odkaz:
https://doaj.org/article/858ab86634d0401c811792bd3be86640
Autor:
Federico Bertoli
This protocol details methods for differentiation of NPCs to Dopaminergic/Midbrain Neurons.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::993a37c7ff9988193ceb0af10d297027
https://doi.org/10.17504/protocols.io.14egn216qg5d/v1
https://doi.org/10.17504/protocols.io.14egn216qg5d/v1
Autor:
Federico Bertoli
Collection of protocols of Team Deleidi used in the publication: "Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy metabolism"
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::16dccd24b38a301407ac56a30fe6b91e
https://doi.org/10.17504/protocols.io.rm7vzbejrvx1/v1
https://doi.org/10.17504/protocols.io.rm7vzbejrvx1/v1
Autor:
Carmela Giachino, Cataldo Tirolo, Salvatore Caniglia, Maria F. Serapide, Francesca L’Episcopo, Federico Bertoli, Claudio Giuliano, Marika Mearelli, Meike Jakobi, Nicole Schneiderhan-Marra, Michela Deleidi, Bianca Marchetti
BackgroundMutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most frequent cause of familial Parkinson’s disease (PD). The incomplete penetrance of LRRK2 mutations suggest that additional hits are required for disease onset. We hypo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::783f9a60378b2eed643491a257449f87
https://doi.org/10.21203/rs.3.rs-2044882/v1
https://doi.org/10.21203/rs.3.rs-2044882/v1
Autor:
michela.deleidi not provided, María José Pérez J., Hariam Raji, Federico Bertoli, Pascale Baden
Collection of protocols of Team Deleidi used in the publication: "Glucocerebrosidase, a Parkinson´s disease-associated protein, is imported into mitochondria and regulates complex I assembly and function"
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b83735188de7860d43e28392d8f9351
https://doi.org/10.17504/protocols.io.b8q9rvz6
https://doi.org/10.17504/protocols.io.b8q9rvz6
Autor:
michela.deleidi not provided, María José Pérez J., Hariam Raji, Pascale Baden, Federico Bertoli
Collection of protocols of Team Deleidi used in the publication: "Glucocerebrosidase, a Parkinson´s disease-associated protein, is imported into mitochondria and regulates complex I assembly and function"
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::134ebb7cea307a23bf5a0ed2fa4a20f9
https://doi.org/10.17504/protocols.io.b8nwrvfe
https://doi.org/10.17504/protocols.io.b8nwrvfe
Autor:
michela.deleidi not provided, María José Pérez J., Pascale Baden, Hariam Raji, Federico Bertoli
Collection of protocols of Team Deleidi used in the publication: "Glucocerebrosidase, a Parkinson´s disease-associated protein, is imported into mitochondria and regulates complex I assembly and function"
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11aa3414ac1e5adf646492c9c793afc0
https://doi.org/10.17504/protocols.io.3byl4b358vo5/v1
https://doi.org/10.17504/protocols.io.3byl4b358vo5/v1
Autor:
Pascale Baden, Maria-Jose Perez, Stefanie Kalb, Hariam Raji, María Illescas, Claudio Giuliano, Federico Bertoli, Marvin Oldrati, Alessandra Calogero, Graziella Cappelletti, Kathrin Brockmann, Thomas Gasser, Anthony H V Schapira, Cristina Ugalde, Michela Deleidi
Mutations in the lysosomal enzyme β-glucocerebrosidase (GCase), which cause Gaucher's disease, are the most frequent genetic risk factor for Parkinson’s disease (PD). Here, we employed global proteomic and single-cell genomic approaches in stable
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4449124fac4e6099368591cfaa75221a
https://doi.org/10.21203/rs.3.rs-1521848/v1
https://doi.org/10.21203/rs.3.rs-1521848/v1
Autor:
Federico Bertoli
Glucocerebrosidase is a lysosomal enzyme that catalyzes the hydrolysis of glucosylceramide (GlcCer), a membrane glyco-sphingolipid, to ceramide and glucose. This assay detects GBA activity by using a fluorogenic substrate that reacts with cell lysate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ba6c129e9980d1e2e33fdbafbc73bf9
https://doi.org/10.17504/protocols.io.b4dvqs66
https://doi.org/10.17504/protocols.io.b4dvqs66