Zobrazeno 1 - 10
of 94
pro vyhledávání: '"Irene, Pichler"'
Autor:
Chiara Buoso, Markus Seifert, Martin Lang, Corey M. Griffith, Begoña Talavera Andújar, Maria Paulina Castelo Rueda, Christine Fischer, Carolina Doerrier, Heribert Talasz, Alessandra Zanon, Peter P. Pramstaller, Emma L. Schymanski, Irene Pichler, Guenter Weiss
Publikováno v:
Neurobiology of Disease, Vol 196, Iss , Pp 106506- (2024)
Imbalances of iron and dopamine metabolism along with mitochondrial dysfunction have been linked to the pathogenesis of Parkinson's disease (PD). We have previously suggested a direct link between iron homeostasis and dopamine metabolism, as dopamine
Externí odkaz:
https://doaj.org/article/d517c125d28f4107ba7717865a8a0ac0
Autor:
Alessandra Zanon, Marianna Guida, Alexandros A. Lavdas, Corrado Corti, Maria Paulina Castelo Rueda, Alessandro Negro, Peter P. Pramstaller, Francisco S. Domingues, Andrew A. Hicks, Irene Pichler
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-18 (2024)
Abstract Background Loss-of-function mutations in the PRKN gene, encoding Parkin, are the most common cause of autosomal recessive Parkinson’s disease (PD). We have previously identified mitoch ondrial Stomatin-like protein 2 (SLP-2), which functio
Externí odkaz:
https://doaj.org/article/88a024bc3f464c5f857464da5d5e7d81
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
Publikováno v:
Molecular Neurodegeneration, Vol 17, Iss 1, Pp 1-26 (2022)
Abstract Living organisms constantly need to adapt to their surrounding environment and have evolved sophisticated mechanisms to deal with stress. Mitochondria and lysosomes are central organelles in the response to energy and nutrient availability w
Externí odkaz:
https://doaj.org/article/c80740e5d0984065af7db6e09eb47634
Autor:
Eva König, Alessandra Nicoletti, Cristian Pattaro, Grazia Annesi, Roberto Melotti, Alessandro Gialluisi, Christine Schwienbacher, Anne Picard, Hagen Blankenburg, Irene Pichler, Nicola Modugno, Marina Ciullo, Teresa Esposito, Francisco S. Domingues, Andrew A. Hicks, Mario Zappia, Peter P. Pramstaller
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
Abstract Levodopa is the standard long-term dopamine replacement therapy to treat Parkinson’s disease (PD) symptoms. With time, levodopa may induce debilitating dyskinesias (LID), the treatment of which represents a large clinically unmet need. How
Externí odkaz:
https://doaj.org/article/729fb5b9e7544bd191b10488b78de1e8
Autor:
Maria Paulina Castelo Rueda, Valentina Gilmozzi, Diana A. Riekschnitz, Marina Di Segni, Rosamaria Silipigni, Peter P. Pramstaller, Andrew A. Hicks, Irene Pichler, Alessandra Zanon
Publikováno v:
Stem Cell Research, Vol 60, Iss , Pp 102692- (2022)
Mutations in the Parkin (PRKN) gene are the most frequent known cause of autosomal recessive early-onset Parkinson’s disease (PD). Heterozygous mutations might predispose to disease with a highly reduced penetrance. We generated iPSC lines from two
Externí odkaz:
https://doaj.org/article/965fa45451454820876142a24c18aac2
Autor:
Valentina Gilmozzi, Giovanna Gentile, Diana A. Riekschnitz, Claudia B. Volpato, Marina Di Segni, Rosamaria Silipigni, Peter P. Pramstaller, Andrew A. Hicks, Irene Pichler, Alessandra Zanon
Publikováno v:
Stem Cell Research, Vol 60, Iss , Pp 102713- (2022)
The SNCA gene encodes the presynaptic α-synuclein (aSyn) protein, and its mutations are associated with autosomal dominant Parkinson’s disease (PD). We describe the generation of an induced pluripotent stem cell (iPSC) line of a patient carrying a
Externí odkaz:
https://doaj.org/article/8c44327ede0144fa83cabfb5920bfc8a
Autor:
Valentina Gilmozzi, Giovanna Gentile, Diana A. Riekschnitz, Michael Von Troyer, Alexandros A. Lavdas, Emanuela Kerschbamer, Christian X. Weichenberger, Marcelo D. Rosato-Siri, Simona Casarosa, Luciano Conti, Peter P. Pramstaller, Andrew A. Hicks, Irene Pichler, Alessandra Zanon
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Human induced pluripotent stem cells (hiPSCs) represent an unlimited cell source for the generation of patient-specific dopaminergic (DA) neurons, overcoming the hurdle of restricted accessibility to disease-affected tissue for mechanistic studies on
Externí odkaz:
https://doaj.org/article/1b46ad349975430cac3e8b75a86ac04d
Autor:
Maria Paulina Castelo Rueda, Athina Raftopoulou, Martin Gögele, Max Borsche, David Emmert, Christian Fuchsberger, Essi M. Hantikainen, Vladimir Vukovic, Christine Klein, Peter P. Pramstaller, Irene Pichler, Andrew A. Hicks
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Mutations in the Parkin (PRKN) gene are the most frequent cause of autosomal recessive early-onset Parkinson's disease (PD). Heterozygous PRKN mutation carriers might also be at increased risk for developing clinical symptoms of PD. Given the high fr
Externí odkaz:
https://doaj.org/article/dac5435b761e4242aeef4aa89008722f
Autor:
Valentina Gilmozzi, Giovanna Gentile, Maria Paulina Castelo Rueda, Andrew A. Hicks, Peter P. Pramstaller, Alessandra Zanon, Martin Lévesque, Irene Pichler
Publikováno v:
Frontiers in Neuroscience, Vol 14 (2020)
Alpha-Synuclein (α-Syn) is a central protein in the pathogenesis of synucleinopathies, a group of neurodegenerative disorders including Parkinson’s disease (PD). Although its role in neurotransmission is well established, the precise role of this
Externí odkaz:
https://doaj.org/article/4d5d89c7d8694bd98ef5ff0c99d5bfea