Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Marina Villamor-Payà"'
De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
Autor:
Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram, Alysia Kern Lovgren, Christina Austin-Tse, Vijay S. Ganesh, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Lluís Palenzuela, Grace VanNoy, Anne O’Donnell-Luria, Travis H. Stracker
Publikováno v:
iScience, Vol 27, Iss 6, Pp 109984- (2024)
Summary: The Tousled-like kinases 1 and 2 (TLK1/TLK2) regulate DNA replication, repair and chromatin maintenance. TLK2 variants underlie the neurodevelopmental disorder (NDD) ‘Intellectual Disability, Autosomal Dominant 57’ (MRD57), characterized
Externí odkaz:
https://doaj.org/article/9fee7cb1f61b4d7e99ce9dad37542610
Autor:
Ricardo Viais, Marcos Fariña-Mosquera, Marina Villamor-Payà, Sadanori Watanabe, Lluís Palenzuela, Cristina Lacasa, Jens Lüders
Publikováno v:
eLife, Vol 10 (2021)
Microtubules that assemble the mitotic spindle are generated by centrosomal nucleation, chromatin-mediated nucleation, and nucleation from the surface of other microtubules mediated by the augmin complex. Impairment of centrosomal nucleation in apica
Externí odkaz:
https://doaj.org/article/2e28477da31f4ba9b734e53092ccda7e
Autor:
Sandra Segura-Bayona, Marina Villamor-Payà, Camille Stephan-Otto Attolini, Lars M. Koenig, Maria Sanchiz-Calvo, Simon J. Boulton, Travis H. Stracker
Publikováno v:
Cell Reports, Vol 32, Iss 5, Pp 107983- (2020)
Summary: The Tousled-like kinases 1 and 2 (TLK1/2) control histone deposition through the ASF1 histone chaperone and influence cell cycle progression and genome maintenance, yet the mechanisms underlying TLK-mediated genome stability remain uncertain
Externí odkaz:
https://doaj.org/article/fb3250859cdb404aac7e087f433bf693
Autor:
Gulnahar B. Mortuza, Dario Hermida, Anna-Kathrine Pedersen, Sandra Segura-Bayona, Blanca López-Méndez, Pilar Redondo, Patrick Rüther, Irina Pozdnyakova, Ana M. Garrote, Inés G. Muñoz, Marina Villamor-Payà, Cristina Jauset, Jesper V. Olsen, Travis H. Stracker, Guillermo Montoya
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-17 (2018)
The Tousled-like kinase (TLKs) family belongs to a distinct branch of Ser/Thr kinases that exhibit the highest levels of activity during DNA replication. Here the authors present the crystal structure of the kinase domain from human TLK2 and propose
Externí odkaz:
https://doaj.org/article/5782a4cbd30a44858e898e8e1633bd30
Autor:
Cristina Lacasa, Marcos Fariña-Mosquera, Marina Villamor-Payà, Lluís Palenzuela, Sadanori Watanabe, Ricardo Viais, Jens Lüders
Publikováno v:
eLife, Vol 10 (2021)
eLife
eLife
Microtubules that assemble the mitotic spindle are generated by centrosomal nucleation, chromatin-mediated nucleation, and nucleation from the surface of other microtubules mediated by the augmin complex. Impairment of centrosomal nucleation in apica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d14bb6d6a4788ce5205656456fba86f
https://elifesciences.org/articles/67989
https://elifesciences.org/articles/67989
Autor:
Marina Villamor-Payà, Sandra Segura-Bayona, Lars M. Koenig, Travis H. Stracker, Camille Stephan-Otto Attolini, Simon J. Boulton, Maria Sanchiz-Calvo
Publikováno v:
Cell Reports
Cell Reports, Vol 32, Iss 5, Pp 107983-(2020)
Cell Reports, Vol 32, Iss 5, Pp 107983-(2020)
Summary The Tousled-like kinases 1 and 2 (TLK1/2) control histone deposition through the ASF1 histone chaperone and influence cell cycle progression and genome maintenance, yet the mechanisms underlying TLK-mediated genome stability remain uncertain.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48978fc62d2da3c4e066ec68d81b96bb
http://europepmc.org/articles/PMC7408502
http://europepmc.org/articles/PMC7408502
Autor:
Lisa, Pavinato, Marina, Villamor-Payà, Maria, Sanchiz-Calvo, Cristina, Andreoli, Marina, Gay, Marta, Vilaseca, Gianluca, Arauz-Garofalo, Andrea, Ciolfi, Alessandro, Bruselles, Tommaso, Pippucci, Valentina, Prota, Diana, Carli, Elisa, Giorgio, Francesca Clementina, Radio, Vincenzo, Antona, Mario, Giuffrè, Kara, Ranguin, Cindy, Colson, Silvia, De Rubeis, Paola, Dimartino, Joseph D, Buxbaum, Giovanni Battista, Ferrero, Marco, Tartaglia, Simone, Martinelli, Travis H, Stracker, Alfredo, Brusco
Publikováno v:
Journal of medical genetics. 59(2)
The Tousled-like kinases 1 and 2 (TLK1 and TLK2) are involved in many fundamental processes, including DNA replication, cell cycle checkpoint recovery and chromatin remodelling. Mutations inWe re-evaluate whole exome sequencing and array-CGH data fro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::50da9e26341705814c0d15d5c645e265
https://pubmed.ncbi.nlm.nih.gov/33323470
https://pubmed.ncbi.nlm.nih.gov/33323470
Autor:
Lisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, Cristina Andreoli, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Andrea Ciolfi, Alessandro Bruselles, Tommaso Pippucci, Valentina Prota, Diana Carli, Elisa Giorgio, Francesca Clementina Radio, Vincenzo Antona, Mario Giuffrè, Kara Ranguin, Cindy Colson, Silvia De Rubeis, Paola Dimartino, Joseph D Buxbaum, Giovanni Battista Ferrero, Marco Tartaglia, Simone Martinelli, Travis H Stracker, Alfredo Brusco
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Universidad de Barcelona
IntroductionThe Tousled-like kinases 1 and 2 (TLK1 and TLK2) are involved in many fundamental processes, including DNA replication, cell cycle checkpoint recovery and chromatin remodelling. Mutations in TLK2 were recently associated with ‘Mental Re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::552829fbd820b85333c5a3c6f2f9dcf9
http://hdl.handle.net/2445/181005
http://hdl.handle.net/2445/181005
Autor:
Travis H. Stracker, Sandra Segura-Bayona, Marina Villamor-Payà, Camille Stephan-Otto Attolini
The Tousled like kinases 1 and 2 (TLK1/2) control histone deposition through the ASF1 histone chaperones and are regulated by the DNA damage response. Depletion of TLK activity caused replication stress, increased chromosomal instability and cell arr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6f396a5930edb33e65349b162fff946