Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Diana Piol"'
Autor:
Sonia Vazquez-Sanchez, Britt Tilkin, Fatima Gasset-Rosa, Sitao Zhang, Diana Piol, Melissa McAlonis-Downes, Jonathan Artates, Noe Govea-Perez, Yana Verresen, Lin Guo, Don W. Cleveland, James Shorter, Sandrine Da Cruz
Publikováno v:
Molecular Neurodegeneration, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract RNA binding proteins have emerged as central players in the mechanisms of many neurodegenerative diseases. In particular, a proteinopathy of fused in sarcoma (FUS) is present in some instances of familial Amyotrophic lateral sclerosis (ALS)
Externí odkaz:
https://doaj.org/article/95638d30dda343ee9bedd62a7544c554
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
Publikováno v:
Frontiers in Aging Neuroscience, Vol 13 (2021)
Motor neurons (MNs) are specialized neurons responsible for muscle contraction that specifically degenerate in motor neuron diseases (MNDs), such as amyotrophic lateral sclerosis (ALS), spinal and bulbar muscular atrophy (SBMA), and spinal muscular a
Externí odkaz:
https://doaj.org/article/140e54cf59e24f8181d10beb6754d262
Autor:
Mathilde Chivet, Caterina Marchioretti, Marco Pirazzini, Diana Piol, Chiara Scaramuzzino, Maria Josè Polanco, Vanina Romanello, Emanuela Zuccaro, Sara Parodi, Maurizio D’Antonio, Carlo Rinaldi, Fabio Sambataro, Elena Pegoraro, Gianni Soraru, Udai Bhan Pandey, Marco Sandri, Manuela Basso, Maria Pennuto
Publikováno v:
Cells, Vol 9, Iss 2, p 325 (2020)
Polyglutamine (polyQ) expansions in the androgen receptor (AR) gene cause spinal and bulbar muscular atrophy (SBMA), a neuromuscular disease characterized by lower motor neuron (MN) loss and skeletal muscle atrophy, with an unknown mechanism. We gene
Externí odkaz:
https://doaj.org/article/7511012dd5ea4998bf29bae7fce0d28c
Publikováno v:
Neuron. 111:1355-1380
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:
Emanuela Zuccaro, Marco Pirazzini, María José Polanco, Maria Pennuto, Fabio Sambataro, Manuela Basso, Carlo Rinaldi, Chiara Scaramuzzino, Vanina Romanello, Marco Sandri, Maurizio D'Antonio, Sara Parodi, Diana Piol, Udai Bhan Pandey, Elena Pegoraro, Mathilde Chivet, Gianni Sorarù, Caterina Marchioretti
Publikováno v:
Cells
Cells, Vol 9, Iss 2, p 325 (2020)
Volume 9
Issue 2
Cells, Vol 9, Iss 2, p 325 (2020)
Volume 9
Issue 2
Polyglutamine (polyQ) expansions in the androgen receptor (AR) gene cause spinal and bulbar muscular atrophy (SBMA), a neuromuscular disease characterized by lower motor neuron (MN) loss and skeletal muscle atrophy, with an unknown mechanism. We gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71ed95f6fa03ab1e574e7cd1a6ec8b94
http://hdl.handle.net/11577/3325644
http://hdl.handle.net/11577/3325644
Autor:
Samir R. Nath, Chiara Scaramuzzino, Bert Blaauw, Marta Canato, Marco Sandri, Manuela Basso, Andrew P. Lieberman, Maurizio D'Antonio, Emanuela Zuccaro, Mathilde Chivet, Caterina Marchioretti, Lorenzo Marcucci, Polanco J, Elena Pegoraro, Diana Piol, Romanello, Gianni Sorarù, Carlo Rinaldi, Erik Dassi, Fabio Sambataro, Sara Parodi, Leonardo Nogara, Andrea Armani, Marco Pirazzini, Maria Pennuto
Spinal and bulbar muscular atrophy (SBMA) is caused by polyglutamine (polyQ) expansions in the androgen receptor (AR) gene. Although clinical and experimental evidence highlight a primary role for skeletal muscle in the onset, progression, and outcom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f116d5c53b7c853bdf54b1ddd78dd51
Autor:
Chiara Pederiva, Olivier Jousson, Erik Dassi, Silvia Chiera, Giuseppina Covello, Diana Piol, Gabriele Girelli, Nicola Segata, Michela Alessandra Denti, Veronica De Sanctis, Marco Lorenzoni, Dario Rizzotto, Aldo QUATTRONE
Publikováno v:
Journal of Biotechnology. 190:30-39
Microbial communities populating several human body habitats are important determinants of human health. Cultivation-free community-wide approaches like bacterial 16S rRNA sequencing recently revolutionized the study of such human-associated microbia
Autor:
Helen C. Miranda, Illana Gozes, Sara Parodi, Raul R. Gainetdinov, Diana Piol, María José Polanco, Maria Pennuto, Stefano Espinoza, Kenneth H. Fischbeck, Patricia M.-J. Lievens, Albert R. La Spada, Christopher Grunseich, Anna Rocchi, Tobias Jochum, Conor Stack, Fabio Sambataro, Mathilde Chivet, Andrea Contestabile, Andrew C.B. Cato, Andrew P. Lieberman
Publikováno v:
Science translational medicine. 8(370)
Spinobulbar muscular atrophy (SBMA) is an X-linked neuromuscular disease caused by polyglutamine (polyQ) expansion in the androgen receptor (AR) gene. SBMA belongs to the family of polyQ diseases, which are fatal neurodegenerative disorders mainly ca