Citron Kinase Deficiency Leads to Chromosomal Instability and TP53-Sensitive Microcephaly

Autor: Alessia Caramello, Alessandro Mauro, Ferdinando Di Cunto, Chiara Merigliano, Laura Tasca, Silvia Bonaccorsi, Lorenzo Priano, Salvatore Oliviero, Alessandra Maria Adelaide Chiotto, Ugo Ala, Marta Gai, F. Bianchi, Gianmarco Pallavicini, Stephan Geley, Francesco Neri, Yifan Liu, Maurizio Gatti, Fiammetta Vernì, Nadia El-Assawy, Gaia Berto, Francesco Sgrò, Chiara Tocco

Publikováno v: Cell Reports
Cell Reports, Vol 18, Iss 7, Pp 1674-1686 (2017)

Summary Mutations in citron (CIT), leading to loss or inactivation of the citron kinase protein (CITK), cause primary microcephaly in humans and rodents, associated with cytokinesis failure and apoptosis in neural progenitors. We show that CITK loss

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31feecf1627827b0c52058fa57e46e99
http://europepmc.org/articles/PMC5318669

A Non-natural Peptide Targeting the A-kinase Anchoring Function of PI3Kγ for Therapeutic cAMP Modulation in Pulmonary Cells.

Autor: Della Sala A; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10126, Torino, Italy., Tasca L; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10126, Torino, Italy; Kither Biotech Srl, 10126, Torino, Italy., Butnarasu C; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10126, Torino, Italy., Sala V; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10126, Torino, Italy; Kither Biotech Srl, 10126, Torino, Italy., Prono G; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10126, Torino, Italy., Murabito A; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10126, Torino, Italy., Garbero OV; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10126, Torino, Italy., Millo E; Department of Experimental Medicine, Section of Biochemistry, University of Genova, 16132, Genova, Italy., Terranova L; Internal Medicine Department, Respiratory Unit and Cystic Fibrosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122, Milan, Italy; Microbiology and Virology Specialization School, University of Pavia, Pavia, Italy., Blasi F; Internal Medicine Department, Respiratory Unit and Cystic Fibrosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122, Milan, Italy; Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy., Gramegna A; Internal Medicine Department, Respiratory Unit and Cystic Fibrosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122, Milan, Italy; Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy., Aliberti S; Humanitas University, IRCCS Humanitas Research Hospital, Respiratory Unit, 20089, Milan, Italy., Massarotti A; Department of Pharmaceutical Science, University of Piemonte Orientale, 28100, Novara, Italy., Visentin S; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10126, Torino, Italy., Hirsch E; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10126, Torino, Italy; Kither Biotech Srl, 10126, Torino, Italy., Ghigo A; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10126, Torino, Italy; Kither Biotech Srl, 10126, Torino, Italy. Electronic address: alessandra.ghigo@unito.it.

Publikováno v: The Journal of biological chemistry [J Biol Chem] 2024 Oct 09, pp. 107873. Date of Electronic Publication: 2024 Oct 09.