Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Sylvie Delcambre"'
Autor:
Patrycja Mulica, Carmen Venegas, Zied Landoulsi, Katja Badanjak, Sylvie Delcambre, Maria Tziortziou, Soraya Hezzaz, Jenny Ghelfi, Semra Smajic, Jens Schwamborn, Rejko Krüger, Paul Antony, Patrick May, Enrico Glaab, Anne Grünewald, Sandro L. Pereira
Publikováno v:
Biological Procedures Online, Vol 25, Iss 1, Pp 1-14 (2023)
Abstract Background Astrocytes have recently gained attention as key contributors to the pathogenesis of neurodegenerative disorders including Parkinson’s disease. To investigate human astrocytes in vitro, numerous differentiation protocols have be
Externí odkaz:
https://doaj.org/article/ee5163821687401ea645d2cea18c3874
Autor:
Milda Aleknonytė-Resch, Joanne Trinh, Hampton Leonard, Sylvie Delcambre, Elsa Leitão, Dongbing Lai, Semra Smajić, Avi Orr-Urtreger, Avner Thaler, Cornelis Blauwendraat, Arunabh Sharma, Mary B. Makarious, Jonggeol Jeff Kim, Julie Lake, Pegah Rahmati, Sandra Freitag-Wolf, Philip Seibler, Tatiana Foroud, Andrew B. Singleton, The International Parkinson Disease Genomics Consortium, Anne Grünewald, Frank Kaiser, Christine Klein, Michael Krawczak, Astrid Dempfle
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-9 (2023)
Abstract The effects of one genetic factor upon Parkinson’s disease (PD) risk may be modified by other genetic factors. Such gene-gene interaction (G×G) could explain some of the ‘missing heritability’ of PD and the reduced penetrance of known
Externí odkaz:
https://doaj.org/article/eab9e702433b4666b815d44862487080
Autor:
Maria Paulina Castelo Rueda, Alessandra Zanon, Valentina Gilmozzi, Alexandros A. Lavdas, Athina Raftopoulou, Sylvie Delcambre, Fabiola Del Greco M, Christine Klein, Anne Grünewald, Peter P. Pramstaller, Andrew A. Hicks, Irene Pichler
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-14 (2023)
Abstract Homozygous or compound heterozygous (biallelic) variants in PRKN are causal for PD with highly penetrant symptom expression, while the much more common heterozygous variants may predispose to PD with highly reduced penetrance, through altere
Externí odkaz:
https://doaj.org/article/f9b2bc4416894229b0f7654d2b8312bc
Autor:
Philipp Hörmann, Sylvie Delcambre, Jasmin Hanke, Robert Geffers, Marcel Leist, Karsten Hiller
Publikováno v:
Cell Death Discovery, Vol 7, Iss 1, Pp 1-10 (2021)
Abstract L-3,4-Dihydroxyphenylalanin (l-DOPA or levodopa) is currently the most used drug to treat symptoms of Parkinson’s disease (PD). After crossing the blood–brain barrier, it is enzymatically converted to dopamine by neuronal cells and resto
Externí odkaz:
https://doaj.org/article/413086d33cc94c3f852e6a36fac9a1fb
Autor:
Katja Badanjak, Patrycja Mulica, Semra Smajic, Sylvie Delcambre, Leon-Charles Tranchevent, Nico Diederich, Thomas Rauen, Jens C. Schwamborn, Enrico Glaab, Sally A. Cowley, Paul M. A. Antony, Sandro L. Pereira, Carmen Venegas, Anne Grünewald
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Parkinson’s disease (PD) is a neurodegenerative disease with unknown cause in the majority of patients, who are therefore considered “idiopathic” (IPD). PD predominantly affects dopaminergic neurons in the substantia nigra pars compacta (SNpc),
Externí odkaz:
https://doaj.org/article/e67011a883074525b6799daeb3e433fd
Autor:
Sylvie Delcambre, Jenny Ghelfi, Nassima Ouzren, Léa Grandmougin, Catherine Delbrouck, Philip Seibler, Kobi Wasner, Jan O. Aasly, Christine Klein, Joanne Trinh, Sandro L. Pereira, Anne Grünewald
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Several mutations in leucine-rich repeat kinase-2 (LRRK2) have been associated with Parkinson's disease (PD). The most common substitution, G2019S, interferes with LRRK2 kinase activity, which is regulated by autophosphorylation. Yet, the penetrance
Externí odkaz:
https://doaj.org/article/1ebd40586a1b4db891732da8ccc4aff2
Autor:
Giuseppe Arena, Zied Landoulsi, Dajana Grossmann, Armelle Vitali, Sylvie Delcambre, Alexandre Baron, Paul Antony, Ibrahim Boussaad, Dheeraj Reddy Bobbili, Ashwin Ashok Kumar Sreelatha, Lukas Pavelka, Christine Klein, Philip Seibler, Enrico Glaab, Manu Sharma, Rejko Krüger, Patrick May, Anne Grünewald
BackgroundParkinson’s disease (PD) is the fastest growing neurodegenerative disorder, with affected individuals expected to double during the next 20 years. This raises the urgent need to better understand the genetic architecture and downstream ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3b8610eaf6683d16253af4317112d360
https://doi.org/10.1101/2023.05.12.23289877
https://doi.org/10.1101/2023.05.12.23289877
Autor:
Joanne Trinh, Andrew A Hicks, Inke R König, Sylvie Delcambre, Theresa Lüth, Susen Schaake, Kobi Wasner, Jenny Ghelfi, Max Borsche, Carles Vilariño-Güell, Faycel Hentati, Elisabeth L Germer, Peter Bauer, Masashi Takanashi, Vladimir Kostić, Anthony E Lang, Norbert Brüggemann, Peter P Pramstaller, Irene Pichler, Alex Rajput, Nobutaka Hattori, Matthew J Farrer, Katja Lohmann, Hansi Weissensteiner, Patrick May, Christine Klein, Anne Grünewald
Publikováno v:
Brain.
Biallelic mutations in PINK1/PRKN cause recessive Parkinson’s disease. Given the established role of PINK1/Parkin in regulating mitochondrial dynamics, we explored mitochondrial DNA integrity and inflammation as disease modifiers in carriers of mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cb8c5287f93823b46ee05614fa2715c
https://doi.org/10.1093/brain/awac464
https://doi.org/10.1093/brain/awac464
Autor:
Joanne Trinh, Andrew A. Hicks, Inke R. König, Sylvie Delcambre, Theresa Lüth, Susen Schaake, Kobi Wasner, Jenny Ghelfi, Max Borsche, Carles Vilariño-Güell, Faycel Hentati, Elisabeth L. Germer, Peter Bauer, Masashi Takanashi, Vladimir Kostić, Anthony E. Lang, Norbert Brüggemann, Peter P. Pramstaller, Irene Pichler, Alex Rajput, Nobutaka Hattori, Matthew J. Farrer, Katja Lohmann, Hansi Weissensteiner, Patrick May, Christine Klein, Anne Grünewald
Biallelic mutations in PINK1 and PRKN cause recessively inherited Parkinson’s disease (PD). Though some studies suggest that PINK1/PRKN monoallelic mutations may not contribute to risk, deep phenotyping assessment showed that PINK1 or PRKN monoalle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0836d3f412d7c5a70521c23028039e3f
https://doi.org/10.1101/2022.05.17.22275087
https://doi.org/10.1101/2022.05.17.22275087
Autor:
Semra Smajić, Cesar A. Prada-Medina, Zied Landoulsi, Jenny Ghelfi, Sylvie Delcambre, Carola Dietrich, Javier Jarazo, Jana Henck, Saranya Balachandran, Sinthuja Pachchek, Christopher M. Morris, Paul Antony, Bernd Timmermann, Sascha Sauer, Sandro L. Pereira, Jens C. Schwamborn, Patrick May, Anne Grünewald, Malte Spielmann
Publikováno v:
Brain
Idiopathic Parkinson’s disease is characterized by a progressive loss of dopaminergic neurons, but the exact disease aetiology remains largely unknown. To date, Parkinson’s disease research has mainly focused on nigral dopaminergic neurons, altho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a5537b72e848ef074330eb33e0d01f4
https://hdl.handle.net/21.11116/0000-000A-F076-221.11116/0000-0009-BFDC-9
https://hdl.handle.net/21.11116/0000-000A-F076-221.11116/0000-0009-BFDC-9