De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
Villamor-Payà, Marina, Sanchiz-Calvo, María, Smak, Jordann, Pais, Lynn, Sud, Malika, Shankavaram, Uma, Lovgren, Alysia Kern, Austin-Tse, Christina, Ganesh, Vijay S., Gay, Marina, Vilaseca, Marta, Arauz-Garofalo, Gianluca, Palenzuela, Lluís, VanNoy, Grace, O’Donnell-Luria, Anne, Stracker, Travis H.
Published in iScience (21.06.2024)
Published in iScience (21.06.2024)
Get full text
Journal Article
Rodent models based on endolysosomal genes involved in Parkinson's disease
Sanchiz-Calvo, María, Bentea, Eduard, Baekelandt, Veerle
Published in Current opinion in neurobiology (01.02.2022)
Published in Current opinion in neurobiology (01.02.2022)
Get full text
Journal Article
Tousled-Like Kinases Suppress Innate Immune Signaling Triggered by Alternative Lengthening of Telomeres
Segura-Bayona, Sandra, Villamor-Payà, Marina, Attolini, Camille Stephan-Otto, Koenig, Lars M., Sanchiz-Calvo, Maria, Boulton, Simon J., Stracker, Travis H.
Published in Cell reports (Cambridge) (04.08.2020)
Published in Cell reports (Cambridge) (04.08.2020)
Get full text
Journal Article
De novoTLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
Villamor-Payà, Marina, Sanchiz-Calvo, María, Smak, Jordann, Pais, Lynn, Sud, Malika, Shankavaram, Uma, Lovgren, Alysia Kern, Austin-Tse, Christina, Ganesh, Vijay S., Gay, Marina, Vilaseca, Marta, Arauz-Garofalo, Gianluca, Palenzuela, Lluís, VanNoy, Grace, O’Donnell-Luria, Anne, Stracker, Travis H.
Published in iScience (18.05.2024)
Published in iScience (18.05.2024)
Get full text
Journal Article
53BP1 cooperation with the REV7-shieldin complex underpins DNA structure-specific NHEJ
Ghezraoui, Hind, Oliveira, Catarina, Becker, Jordan R, Bilham, Kirstin, Moralli, Daniela, Anzilotti, Consuelo, Fischer, Roman, Deobagkar-Lele, Mukta, Sanchiz-Calvo, Maria, Fueyo-Marcos, Elena, Bonham, Sarah, Kessler, Benedikt M, Rottenberg, Sven, Cornall, Richard J, Green, Catherine M, Chapman, J Ross
Published in Nature (London) (01.08.2018)
Published in Nature (London) (01.08.2018)
Get full text
Journal Article
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
Pavinato, Lisa, Villamor-Payà, Marina, Sanchiz-Calvo, Maria, Andreoli, Cristina, Gay, Marina, Vilaseca, Marta, Arauz-Garofalo, Gianluca, Ciolfi, Andrea, Bruselles, Alessandro, Pippucci, Tommaso, Prota, Valentina, Carli, Diana, Giorgio, Elisa, Radio, Francesca Clementina, Antona, Vincenzo, Giuffrè, Mario, Ranguin, Kara, Colson, Cindy, De Rubeis, Silvia, Dimartino, Paola, Buxbaum, Joseph D, Ferrero, Giovanni Battista, Tartaglia, Marco, Martinelli, Simone, Stracker, Travis H, Brusco, Alfredo
Published in Journal of medical genetics (01.02.2022)
Published in Journal of medical genetics (01.02.2022)
Get full text
Journal Article