Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Gina Picchiarelli"'
Autor:
Inmaculada Sanjuan-Ruiz, Noé Govea-Perez, Melissa McAlonis-Downes, Stéphane Dieterle, Salim Megat, Sylvie Dirrig-Grosch, Gina Picchiarelli, Diana Piol, Qiang Zhu, Brian Myers, Chao-Zong Lee, Don W Cleveland, Clotilde Lagier-Tourenne, Sandrine Da Cruz, Luc Dupuis
Publikováno v:
Molecular Neurodegeneration, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Mutations in FUS, an RNA-binding protein involved in multiple steps of RNA metabolism, are associated with the most severe forms of amyotrophic lateral sclerosis (ALS). Accumulation of cytoplasmic FUS is likely to be a major culprit in the t
Externí odkaz:
https://doaj.org/article/99efacbef7004ce6bd0c304590be3071
Autor:
Jelena Scekic-Zahirovic, Inmaculada Sanjuan-Ruiz, Vanessa Kan, Salim Megat, Pierre De Rossi, Stéphane Dieterlé, Raphaelle Cassel, Marguerite Jamet, Pascal Kessler, Diana Wiesner, Laura Tzeplaeff, Valérie Demais, Sonu Sahadevan, Katharina M. Hembach, Hans-Peter Muller, Gina Picchiarelli, Nibha Mishra, Stefano Antonucci, Sylvie Dirrig-Grosch, Jan Kassubek, Volker Rasche, Albert Ludolph, Anne-Laurence Boutillier, Francesco Roselli, Magdalini Polymenidou, Clotilde Lagier-Tourenne, Sabine Liebscher, Luc Dupuis
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)
Mutations in the RNA binding protein FUS are associated with ALS. Here the authors show that in FUS knock-in mice there is a progressive increase in neuronal activity in the frontal cortex which is associated with altered synaptic gene expression.
Externí odkaz:
https://doaj.org/article/81d53965ba1c4f5cbe4fa11bc13113fd
Autor:
Gina Picchiarelli, Luc Dupuis
Publikováno v:
Cell Stress, Vol 4, Iss 4, Pp 76-91 (2020)
A number of neuromuscular and muscular diseases, including amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA) and several myopathies, are associated to mutations in related RNA-binding proteins (RBPs), including TDP-43, FUS, MATR3 or
Externí odkaz:
https://doaj.org/article/072c60ac4c9d47aba661d5b547e13459
Autor:
Júlia Canet-Pons, Nesli-Ece Sen, Aleksandar Arsović, Luis-Enrique Almaguer-Mederos, Melanie V. Halbach, Jana Key, Claudia Döring, Anja Kerksiek, Gina Picchiarelli, Raphaelle Cassel, Frédérique René, Stéphane Dieterlé, Nina V. Fuchs, Renate König, Luc Dupuis, Dieter Lütjohann, Suzana Gispert, Georg Auburger
Publikováno v:
Neurobiology of Disease, Vol 152, Iss , Pp 105289- (2021)
Large polyglutamine expansions in Ataxin-2 (ATXN2) cause multi-system nervous atrophy in Spinocerebellar Ataxia type 2 (SCA2). Intermediate size expansions carry a risk for selective motor neuron degeneration, known as Amyotrophic Lateral Sclerosis (
Externí odkaz:
https://doaj.org/article/52a024677ac64e5d9a2e23fc61696b54
Autor:
Nesli-Ece Sen, Claudia Doering, Stéphane Dieterlé, R. Koenig, Suzana Gispert-Sanchez, Júlia Canet-Pons, Frédérique René, N. Hein-Fuchs, Anja Kerksiek, Melanie Vanessa Halbach, Aleksandar Arsovic, Gina Picchiarelli, D. Luetjohann, Jana Key, L.-E. Almaguer-Mederos, Raphaelle Cassel, Luc Dupuis, Georg Auburger
Publikováno v:
Neurobiology of Disease
Neurobiology of Disease, Elsevier, 2021, 152, pp.105289. ⟨10.1016/j.nbd.2021.105289⟩
Neurobiology of Disease, Vol 152, Iss, Pp 105289-(2021)
Neurobiology of Disease, 2021, 152, pp.105289. ⟨10.1016/j.nbd.2021.105289⟩
Neurobiology of disease, 152(2021):105289
Neurobiology of Disease, Elsevier, 2021, 152, pp.105289. ⟨10.1016/j.nbd.2021.105289⟩
Neurobiology of Disease, Vol 152, Iss, Pp 105289-(2021)
Neurobiology of Disease, 2021, 152, pp.105289. ⟨10.1016/j.nbd.2021.105289⟩
Neurobiology of disease, 152(2021):105289
Large polyglutamine expansions in Ataxin-2 (ATXN2) cause multi-system nervous atrophy in Spinocerebellar Ataxia type 2 (SCA2). Intermediate size expansions carry a risk for selective motor neuron degeneration, known as Amyotrophic Lateral Sclerosis (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab6de08db688b0e454f8807b9b1eac19
https://www.hal.inserm.fr/inserm-03376340/file/1-s2.0-S0969996121000383-main.pdf
https://www.hal.inserm.fr/inserm-03376340/file/1-s2.0-S0969996121000383-main.pdf
Autor:
Melissa McAlonis-Downes, Sandrine Da Cruz, Salim Megat, Qiang Zhu, Noé Govea-Perez, Diana Piol, Gina Picchiarelli, Stéphane Dieterlé, Brian Myers, Luc Dupuis, Don W. Cleveland, Clotilde Lagier-Tourenne, Sylvie Dirrig-Grosch, Inmaculada Sanjuan-Ruiz, Chao-Zong Lee
Mutations in FUS, an RNA-binding protein involved in multiple steps of RNA metabolism, are associated with the most severe forms of amyotrophic lateral sclerosis (ALS). Accumulation of cytoplasmic FUS is likely to be a major culprit in the toxicity o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f96d97967de60107ba40dded3d5727e5
https://doi.org/10.1101/2020.12.16.423060
https://doi.org/10.1101/2020.12.16.423060
Autor:
Chantal Sellier, Nick H.M. van Bakel, Amila Zuko, Céline Sijlmans, Sina Mersmann, Anne-Laurence Boutillier, Annemarie Hübers, Amr Aly, Marina Wagner, Stéphane Dieterlé, Moushami Mallik, Marc-Antoine Goy, Clotilde Lagier-Tourenne, Gina Picchiarelli, Albert C. Ludolph, Luc Dupuis, Erik Storkebaum, Julia Higelin, Angela Rosenbohm, Li Zhang, Tobias M. Boeckers, Marije Been, Maria Demestre, Jelena Scekic-Zahirovic, Nadia Messaddeq, Inmaculada Sanjuan-Ruiz
Publikováno v:
Nature Neuroscience
Nature Neuroscience, Nature Publishing Group, 2019, 22 (11), pp.1793-1805. ⟨10.1038/s41593-019-0498-9⟩
Nature neuroscience
Nature Neuroscience, 22, 1793-1805
Nature reviews / Neuroscience 22(11), 1793-1805 (2019). doi:10.1038/s41593-019-0498-9
Nature Neuroscience, 22, 11, pp. 1793-1805
Nature Neuroscience, Nature Publishing Group, 2019, 22 (11), pp.1793-1805. ⟨10.1038/s41593-019-0498-9⟩
Nature neuroscience
Nature Neuroscience, 22, 1793-1805
Nature reviews / Neuroscience 22(11), 1793-1805 (2019). doi:10.1038/s41593-019-0498-9
Nature Neuroscience, 22, 11, pp. 1793-1805
Neuromuscular junction (NMJ) disruption is an early pathogenic event in amyotrophic lateral sclerosis (ALS). Yet, direct links between NMJ pathways and ALS-associated genes such as FUS, whose heterozygous mutations cause aggressive forms of ALS, rema
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a29ee2725324cd47aad72a1d21ded34f
https://hal.archives-ouvertes.fr/hal-02406369
https://hal.archives-ouvertes.fr/hal-02406369
Autor:
Hajer El Oussini, Christine Marques, Gina Picchiarelli, Stéphane Dieterlé, Luc Dupuis, Caroline Rouaux, Jelena Scekic-Zahirovic, Sylvie Dirrig-Grosch, Jérôme Sinniger, Pauline Vercruysse
Publikováno v:
Annals of Neurology. 82:444-456
Objective: Spasticity occurs in a wide range of neurological diseases, including neurodegenerative diseases, after trauma or after stroke and is characterized by increased reflexes leading to muscle hypertonia. Spasticity is a painful symptom and can