ATM and the DNA damage response

Por Lavin, Martin F, Delia, Domenico, Chessa, Luciana
Publicado em 2006

Dexamethasone Partially Rescues Ataxia Telangiectasia-mutated (ATM) Deficiency in Ataxia Telangiectasia by Promoting a Shortened Protein Variant Retaining Kinase Activity

Por Menotta, Michele, Biagiotti, Sara, Bianchi, Marzia, Chessa, Luciana, Magnani, Mauro
Publicado em 2012

Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report

Por Folgori, Laura, Scarselli, Alessia, Angelino, Giulia, Ferrari, Francesca, Antoccia, Antonio, Chessa, Luciana, Finocchi, Andrea
Publicado em 2010

Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects

Por Mazzilli, Rossella, Delfino, Michele, Elia, Jlenia, Benedetti, Francesco, Alesi, Laura, Chessa, Luciana, Mazzilli, Fernando
Publicado no Endocrinol Diabetes Metab Case Rep (2015)

Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene

Por Contestabile, Maria T., Piane, Maria, Cascone, Nikhil C., Pasquale, Nadia, Ciarnella, Angela, Recupero, Santi M., Chessa, Luciana
Publicado em 2014

The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage

Por Brown, Kevin D., Ziv, Yael, Sadanandan, Sunanda N., Chessa, Luciana, Collins, Francis S., Shiloh, Yosef, Tagle, Danilo A.
Publicado em 1997

Multi-drugs resistant acne rosacea in a child affected by Ataxia-Telangiectasia: successful treatment with Isotretinoin

Por Cantarutti, Nicoletta, Claps, Alessia, Angelino, Giulia, Chessa, Luciana, Callea, Francesco, El Hachem, May, Diociaiuti, Andrea, Finocchi, Andrea
Publicado no Ital J Pediatr (2015)

DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations

Por Magliozzi, Monia, Piane, Maria, Torrente, Isabella, Sinibaldi, Lorenzo, Rizzo, Giovanni, Savio, Camilla, Lulli, Patrizia, De Luca, Alessandro, Dallapiccola, Bruno, Chessa, Luciana
Publicado em 2006

p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes

Por Prodosmo, Andrea, De Amicis, Andrea, Nisticò, Cecilia, Gabriele, Mario, Di Rocco, Giuliana, Monteonofrio, Laura, Piane, Maria, Cundari, Enrico, Chessa, Luciana, Soddu, Silvia
Publicado em 2013

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort

Por Rubattu, Speranza, Bozzao, Cristina, Pennacchini, Ermelinda, Pagannone, Erika, Musumeci, Beatrice Maria, Piane, Maria, Germani, Aldo, Savio, Camilla, Francia, Pietro, Volpe, Massimo, Autore, Camillo, Chessa, Luciana
Publicado no Int J Mol Sci (2016)

Centrosomal Che-1 Protein Is Involved in the Regulation of Mitosis and DNA Damage Response by Mediating Pericentrin (PCNT)-dependent Chk1 Protein Localization

Por Sorino, Cristina, Bruno, Tiziana, Desantis, Agata, Di Certo, Maria Grazia, Iezzi, Simona, De Nicola, Francesca, Catena, Valeria, Floridi, Aristide, Chessa, Luciana, Passananti, Claudio, Cundari, Enrico, Fanciulli, Maurizio
Publicado em 2013

Evidence for Detrimental Cross Interactions between Reactive Oxygen and Nitrogen Species in Leber's Hereditary Optic Neuropathy Cells

Por Falabella, Micol, Forte, Elena, Magnifico, Maria Chiara, Santini, Paolo, Arese, Marzia, Giuffrè, Alessandro, Radić, Kristina, Chessa, Luciana, Coarelli, Giulia, Buscarinu, Maria Chiara, Mechelli, Rosella, Salvetti, Marco, Sarti, Paolo
Publicado no Oxid Med Cell Longev (2016)

Chk2 Activation Dependence on Nbs1 after DNA Damage

Por Buscemi, Giacomo, Savio, Camilla, Zannini, Laura, Miccichè, Francesca, Masnada, Debora, Nakanishi, Makoto, Tauchi, Hiroshi, Komatsu, Kenshi, Mizutani, Shuki, Khanna, KumKum, Chen, Phil, Concannon, Patrick, Chessa, Luciana, Delia, Domenico
Publicado em 2001

Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage

Por Suraweera, Amila, Becherel, Olivier J., Chen, Philip, Rundle, Natalie, Woods, Rick, Nakamura, Jun, Gatei, Magtouf, Criscuolo, Chiara, Filla, Alessandro, Chessa, Luciana, Fußer, Markus, Epe, Bernd, Gueven, Nuri, Lavin, Martin F.
Publicado em 2007

Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia

Por Leuzzi, Vincenzo, Micheli, Roberto, D'Agnano, Daniela, Molinaro, Anna, Venturi, Tullia, Plebani, Alessandro, Soresina, Annarosa, Marini, Mirella, Ferremi Leali, Pierino, Quinti, Isabella, Pietrogrande, Maria C., Finocchi, Andrea, Fazzi, Elisa, Chessa, Luciana, Magnani, Mauro
Publicado no Neurol Neuroimmunol Neuroinflamm (2015)

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sen...

Por Loconte, Daria C., Grossi, Valentina, Bozzao, Cristina, Forte, Giovanna, Bagnulo, Rosanna, Stella, Alessandro, Lastella, Patrizia, Cutrone, Mario, Benedicenti, Francesco, Susca, Francesco C., Patruno, Margherita, Varvara, Dora, Germani, Aldo, Chessa, Luciana, Laforgia, Nicola, Tenconi, Romano, Simone, Cristiano, Resta, Nicoletta
Publicado no PLoS One (2015)

Intra-Erythrocyte Infusion of Dexamethasone Reduces Neurological Symptoms in Ataxia Teleangiectasia Patients: Results of a Phase 2 Trial

Por Chessa, Luciana, Leuzzi, Vincenzo, Plebani, Alessandro, Soresina, Annarosa, Micheli, Roberto, D’Agnano, Daniela, Venturi, Tullia, Molinaro, Anna, Fazzi, Elisa, Marini, Mirella, Ferremi Leali, Pierino, Quinti, Isabella, Cavaliere, Filomena Monica, Girelli, Gabriella, Pietrogrande, Maria Cristina, Finocchi, Andrea, Tabolli, Stefano, Abeni, Damiano, Magnani, Mauro
Publicado em 2014

Critical Involvement of the ATM-Dependent DNA Damage Response in the Apoptotic Demise of HIV-1-Elicited Syncytia

Por Perfettini, Jean-Luc, Nardacci, Roberta, Bourouba, Mehdi, Subra, Frédéric, Gros, Laurent, Séror, Claire, Manic, Gwenola, Rosselli, Filippo, Amendola, Alessandra, Masdehors, Peggy, Chessa, Luciana, Novelli, Giuseppe, Ojcius, David M., Siwicki, Jan Konrad, Chechlinska, Magdalena, Auclair, Christian, Regueiro, José R., de Thé, Hugues, Gougeon, Marie-Lise, Piacentini, Mauro, Kroemer, Guido
Publicado em 2008

Localization of an Ataxia-Telangiectasia Gene to an −500-kb Interval on Chromosome 11q23.1: Linkage Analysis of 176 Families by an International Consortium

Por Lange, Ethan, Borresen, Anna-Lise, Chen, Xiaoguang, Chessa, Luciana, Chiplunkar, Sujata, Concannon, Patrick, Dandekar, Sugandha, Gerken, Steven, Lange, Kenneth, Liang, Teresa, McConville, Carmel, Polakow, Jeff, Porras, Oscar, Rotman, Galit, Sanal, Ozden, Sheikhavandi, Sepideh, Shiloh, Yosef, Sobel, Eric, Taylor, Malcolm, Telatar, Milhan, Teraoka, Sharon, Tolun, Aslihan, Udar, Nitin, Uhrhammer, Nancy, Vanagaite, Lina, Wang, Zhijun, Wapelhorst, Beth, Wright, Jocyndra, Yang, Huan-Ming, Yang, Lan, Ziv, Yael, Gatti, Richard A.
Publicado em 1995

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

Por Harley, Margaret E., Murina, Olga, Leitch, Andrea, Higgs, Martin R., Bicknell, Louise S., Yigit, Gökhan, Blackford, Andrew N., Zlatanou, Anastasia, Mackenzie, Karen J., Reddy, Kaalak, Halachev, Mihail, McGlasson, Sarah, Reijns, Martin A. M., Fluteau, Adeline, Martin, Carol-Anne, Sabbioneda, Simone, Elcioglu, Nursel H., Altmüller, Janine, Thiele, Holger, Greenhalgh, Lynn, Chessa, Luciana, Maghnie, Mohamad, Salim, Mahmoud, Bober, Michael B., Nürnberg, Peter, Jackson, Stephen P., Hurles, Matthew E., Wollnik, Bernd, Stewart, Grant S., Jackson, Andrew P.
Publicado no Nat Genet (2015)