Zobrazeno 1 - 10
of 137
pro vyhledávání: '"Elena, Bonora"'
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q
Autor:
Chiara Diquigiovanni, Nicola Rizzardi, Antje Kampmeier, Irene Liparulo, Francesca Bianco, Bianca De Nicolo, Erica Cataldi-Stagetti, Elisabetta Cuna, Giulia Severi, Marco Seri, Miriam Bertrand, Tobias B. Haack, Adela Della Marina, Frederik Braun, Romana Fato, Alma Kuechler, Christian Bergamini, Elena Bonora
Publikováno v:
Open Biology, Vol 13, Iss 7 (2023)
Pathogenic variants in SPART cause Troyer syndrome, characterized by lower extremity spasticity and weakness, short stature and cognitive impairment, and a severe mitochondrial impairment. Herein, we report the identification of a role of Spartin in
Externí odkaz:
https://doaj.org/article/3a2f4d216a754efba99fc06b6d4bfab0
Publikováno v:
Frontiers in Physiology, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/057807f5f09f4d95bbec1894044b6223
Autor:
Diego Quattrone, Ulrich Reininghaus, Alex L. Richards, Giada Tripoli, Laura Ferraro, Andrea Quattrone, Paolo Marino, Victoria Rodriguez, Edoardo Spinazzola, Charlotte Gayer-Anderson, Hannah E. Jongsma, Peter B. Jones, Caterina La Cascia, Daniele La Barbera, Ilaria Tarricone, Elena Bonora, Sarah Tosato, Antonio Lasalvia, Andrei Szöke, Celso Arango, Miquel Bernardo, Julio Bobes, Cristina Marta Del Ben, Paulo Rossi Menezes, Pierre-Michel Llorca, Jose Luis Santos, Julio Sanjuán, Manuel Arrojo, Andrea Tortelli, Eva Velthorst, Steven Berendsen, Lieuwe de Haan, Bart P. F. Rutten, Michael T. Lynskey, Tom P. Freeman, James B. Kirkbride, Pak C. Sham, Michael C. O’Donovan, Alastair G. Cardno, Evangelos Vassos, Jim van Os, Craig Morgan, Robin M. Murray, Cathryn M. Lewis, Marta Di Forti, EU-GEI collaborators
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-10 (2021)
Abstract Diagnostic categories do not completely reflect the heterogeneous expression of psychosis. Using data from the EU-GEI study, we evaluated the impact of schizophrenia polygenic risk score (SZ-PRS) and patterns of cannabis use on the transdiag
Externí odkaz:
https://doaj.org/article/6cbca552cb464ee398caf31d979f1866
Publikováno v:
Antioxidants, Vol 12, Iss 2, p 353 (2023)
Mitochondria are key players in energy production, critical activity for the smooth functioning of energy-demanding organs such as the muscles, brain, and heart. Therefore, dysregulation or alterations in mitochondrial bioenergetics primarily perturb
Externí odkaz:
https://doaj.org/article/81764406cc8f4bb39e110d2f2a4c4d10
Autor:
Francesca Bianco, Giulia Lattanzio, Luca Lorenzini, Maurizio Mazzoni, Paolo Clavenzani, Laura Calzà, Luciana Giardino, Catia Sternini, Anna Costanzini, Elena Bonora, Roberto De Giorgio
Publikováno v:
Biomolecules, Vol 12, Iss 12, p 1849 (2022)
Severe gut motility disorders are characterized by the ineffective propulsion of intestinal contents. As a result, the patients develop disabling/distressful symptoms, such as nausea and vomiting along with altered bowel habits up to radiologically d
Externí odkaz:
https://doaj.org/article/89c93a2285614ca999f98c17887b6fb1
Autor:
Francesca Bianco, Giulia Lattanzio, Luca Lorenzini, Chiara Diquigiovanni, Maurizio Mazzoni, Paolo Clavenzani, Laura Calzà, Luciana Giardino, Catia Sternini, Elena Bonora, Roberto De Giorgio
Publikováno v:
European Journal of Histochemistry, Vol 65, Iss s1 (2021)
The enteric nervous system (ENS) is the third division of the autonomic autonomic nervous system and the largest collection of neurons outside the central nervous system (CNS). The ENS has been referred to as “the brain in the gut” or “the seco
Externí odkaz:
https://doaj.org/article/38cb5a1f156c41da91e4e1b8dee00e58
Autor:
Giovanni Innella, Elena Bonora, Iria Neri, Annalucia Virdi, Alba Guglielmo, Laura Maria Pradella, Claudio Ceccarelli, Laura Benedetta Amato, Anna Lanzoni, Sara Miccoli, Giuseppe Gasparre, Roberta Zuntini, Daniela Turchetti
Publikováno v:
Frontiers in Medicine, Vol 8 (2021)
Germline PTEN pathogenic variants cause a spectrum of disorders collectively labeled PTEN Hamartoma Tumor Syndrome (PHTS) and featured by hamartomas, developmental anomalies and increased cancer risk. Studies on experimental models provided evidence
Externí odkaz:
https://doaj.org/article/e0d6a52a9f60439fa4722c5d36da1184
Autor:
Aayushi Srivastava, Sara Giangiobbe, Diamanto Skopelitou, Beiping Miao, Nagarajan Paramasivam, Chiara Diquigiovanni, Elena Bonora, Kari Hemminki, Asta Försti, Obul Reddy Bandapalli
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
Familial inheritance in non-medullary thyroid cancer (NMTC) is an area that has yet to be adequately explored. Despite evidence suggesting strong familial clustering of non-syndromic NMTC, known variants still account for a very small percentage of t
Externí odkaz:
https://doaj.org/article/23c65b19eb464b2c85226e7343289103
Autor:
Federica Isidori, Deborah Malvi, Silvia Fittipaldi, Claudio Forcato, Isotta Bozzarelli, Claudia Sala, Giovanni Raulli, Antonia D’Errico, Michelangelo Fiorentino, Marco Seri, Kausilia K. Krishnadath, Elena Bonora, Sandro Mattioli, EAC-BAGH group
Publikováno v:
BMC Cancer, Vol 18, Iss 1, Pp 1-6 (2018)
Abstract Background We report on a female patient who underwent primary radical resection for a stage 2B Her-2-positive Barrett’s-type esophageal adenocarcinoma (EAC). Despite Her-2 targeted therapy, her disease recurred and required repeated metas
Externí odkaz:
https://doaj.org/article/3a7df160cd0b498f8280c02362db206e
Autor:
Abhishek Kumar, Obul Reddy Bandapalli, Nagarajan Paramasivam, Sara Giangiobbe, Chiara Diquigiovanni, Elena Bonora, Roland Eils, Matthias Schlesner, Kari Hemminki, Asta Försti
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-12 (2018)
Abstract Whole-genome sequencing methods in familial cancer are useful to unravel rare clinically important cancer predisposing variants. Here, we present improvements in our pedigree-based familial cancer variant prioritization pipeline referred as
Externí odkaz:
https://doaj.org/article/c32193a2b57f403ea2c06d828e63cf5c