Zobrazeno 1 - 10
of 105
pro vyhledávání: '"Olga Corti"'
Autor:
Poornima Jayadev Menon, Sara Sambin, Baptiste Criniere-Boizet, Thomas Courtin, Christelle Tesson, Fanny Casse, Melanie Ferrien, Louise-Laure Mariani, Stephanie Carvalho, Francois-Xavier Lejeune, Sana Rebbah, Gaspard Martet, Marion Houot, Aymeric Lanore, Graziella Mangone, Emmanuel Roze, Marie Vidailhet, Jan Aasly, Ziv Gan Or, Eric Yu, Yves Dauvilliers, Alexander Zimprich, Volker Tomantschger, Walter Pirker, Ignacio Álvarez, Pau Pastor, Alessio Di Fonzo, Kailash P. Bhatia, Francesca Magrinelli, Henry Houlden, Raquel Real, Andrea Quattrone, Patricia Limousin, Prasad Korlipara, Thomas Foltynie, Donald Grosset, Nigel Williams, Derek Narendra, Hsin-Pin Lin, Carna Jovanovic, Marina Svetel, Timothy Lynch, Amy Gallagher, Wim Vandenberghe, Thomas Gasser, Kathrin Brockmann, Huw R. Morris, Max Borsche, Christine Klein, Olga Corti, Alexis Brice, Suzanne Lesage, Jean Christophe Corvol, French Parkinson disease Genetics Study Group (PDG)
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-12 (2024)
Abstract Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson’s disease (PD). 647 patients with PRKN-PD were included in this international study. The pathogenic variants present were characterised and i
Externí odkaz:
https://doaj.org/article/70e73e8ef588464cb23a2e9bc5b7be18
Autor:
Angelo Iannielli, Mirko Luoni, Serena Gea Giannelli, Rosangela Ferese, Gabriele Ordazzo, Matteo Fossati, Andrea Raimondi, Felipe Opazo, Olga Corti, Jochen H. M. Prehn, Stefano Gambardella, Ronald Melki, Vania Broccoli
Publikováno v:
Cell Death and Disease, Vol 13, Iss 10, Pp 1-16 (2022)
Abstract Triplication of the SNCA gene, encoding the protein alpha-Synuclein (αSyn), is a rare cause of aggressive and early-onset parkinsonism. Herein, we generated iPSCs from two siblings with a recently described compact SNCA gene triplication an
Externí odkaz:
https://doaj.org/article/00822ab787424b9bba7317ec699b92da
Autor:
Mark van den Hurk, Shong Lau, Maria C. Marchetto, Jerome Mertens, Shani Stern, Olga Corti, Alexis Brice, Beate Winner, Jürgen Winkler, Fred H. Gage, Cedric Bardy
Publikováno v:
npj Parkinson's Disease, Vol 8, Iss 1, Pp 1-18 (2022)
Abstract Complex genetic predispositions accelerate the chronic degeneration of midbrain substantia nigra neurons in Parkinson’s disease (PD). Deciphering the human molecular makeup of PD pathophysiology can guide the discovery of therapeutics to s
Externí odkaz:
https://doaj.org/article/14683e153a4e4a20901fa0656fbb2213
Autor:
Emilie Dinh, Thomas Rival, Alice Carrier, Noemi Asfogo, Olga Corti, Christophe Melon, Pascal Salin, Sylviane Lortet, Lydia Kerkerian-Le Goff
Publikováno v:
Cell Death and Disease, Vol 12, Iss 5, Pp 1-19 (2021)
Abstract TP53INP1 is a stress-induced protein, which acts as a dual positive regulator of transcription and of autophagy and whose deficiency has been linked with cancer and metabolic syndrome. Here, we addressed the unexplored role of TP53INP1 and o
Externí odkaz:
https://doaj.org/article/72bd4f54a75243e3a4b94615173dc04c
Autor:
Aurore Tourville, David Akbar, Olga Corti, Jochen H. M. Prehn, Ronald Melki, Stéphane Hunot, Patrick P. Michel
Publikováno v:
Cells, Vol 11, Iss 10, p 1640 (2022)
To model α-Synuclein (αS) aggregation and neurodegeneration in Parkinson’s disease (PD), we established cultures of mouse midbrain dopamine (DA) neurons and chronically exposed them to fibrils 91 (F91) generated from recombinant human αS. We fou
Externí odkaz:
https://doaj.org/article/9f8d29b02147466e8df263134768ae80
Autor:
Aymeric Lanore, Suzanne Lesage, Louise-Laure Mariani, Poornima Jayadev Menon, Philippe Ravassard, Helene Cheval, Olga Corti, Alexis Brice, Jean-Christophe Corvol
Publikováno v:
Genes, Vol 13, Iss 3, p 479 (2022)
Parkinson’s disease (PD) is a disorder characterized by a triad of motor symptoms (akinesia, rigidity, resting tremor) related to loss of dopaminergic neurons mainly in the Substantia nigra pars compacta. Diagnosis is often made after a substantial
Externí odkaz:
https://doaj.org/article/6a31cb78619a4777921274965d0dcee1
Autor:
Thomas G. McWilliams, Erica Barini, Risto Pohjolan-Pirhonen, Simon P. Brooks, François Singh, Sophie Burel, Kristin Balk, Atul Kumar, Lambert Montava-Garriga, Alan R. Prescott, Sidi Mohamed Hassoun, François Mouton-Liger, Graeme Ball, Rachel Hills, Axel Knebel, Ayse Ulusoy, Donato A. Di Monte, Jevgenia Tamjar, Odetta Antico, Kyle Fears, Laura Smith, Riccardo Brambilla, Eino Palin, Miko Valori, Johanna Eerola-Rautio, Pentti Tienari, Olga Corti, Stephen B. Dunnett, Ian G. Ganley, Anu Suomalainen, Miratul M. K. Muqit
Publikováno v:
Open Biology, Vol 8, Iss 11 (2018)
Mutations in PINK1 and Parkin result in autosomal recessive Parkinson's disease (PD). Cell culture and in vitro studies have elaborated the PINK1-dependent regulation of Parkin and defined how this dyad orchestrates the elimination of damaged mitocho
Externí odkaz:
https://doaj.org/article/1d714fdf77f7434a8620cf73ff0a6aee
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 10 (2017)
Parkinson's disease (PD) is one of the most frequent neurodegenerative disease caused by the preferential, progressive degeneration of the dopaminergic (DA) neurons of the substantia nigra (SN) pars compacta. PD is characterized by a multifaceted pat
Externí odkaz:
https://doaj.org/article/1975281c859548538ababa474118d846
Autor:
Wen-Jie Gu, Olga Corti, Francisco Araujo, Cornelia Hampe, Sandrine Jacquier, Christoph B Lücking, Nacer Abbas, Charles Duyckaerts, Thomas Rooney, Laurent Pradier, Merle Ruberg, Alexis Brice
Publikováno v:
Neurobiology of Disease, Vol 14, Iss 3, Pp 357-364 (2003)
Mutations in the parkin gene are responsible for autosomal recessive parkinsonism. The disease-linked missense mutations are highly concentrated in the RING–IBR–RING domains of Parkin. In this study, we investigated the consequences of several mi
Externí odkaz:
https://doaj.org/article/e384570854344d029f9efd7f387cef11
Autor:
Maria Damiano, Clément A Gautier, Anne-Laure Bulteau, Rosa Ferrando-Miguel, Caroline Gouarne, Marc Giraudon Paoli, Rebecca Pruss, Françoise Auchère, Caroline L'Hermitte-Stead, Frédéric Bouillaud, Alexis Brice, Olga Corti, Anne Lombès
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e99898 (2014)
Loss of Parkin, encoded by PARK2 gene, is a major cause of autosomal recessive Parkinson's disease. In Drosophila and mammalian cell models Parkin has been shown in to play a role in various processes essential to maintenance of mitochondrial quality
Externí odkaz:
https://doaj.org/article/7fc360783d8941fe8841643e1214e78d