Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Marina, Gay"'
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:
Matteo Storti, Maria Laura Faietti, Xabier Murgia, Chiara Catozzi, Ilaria Minato, Danilo Tatoni, Simona Cantarella, Francesca Ravanetti, Luisa Ragionieri, Roberta Ciccimarra, Matteo Zoboli, Mar Vilanova, Ester Sánchez-Jiménez, Marina Gay, Marta Vilaseca, Gino Villetti, Barbara Pioselli, Fabrizio Salomone, Simone Ottonello, Barbara Montanini, Francesca Ricci
Publikováno v:
Respiratory Research, Vol 24, Iss 1, Pp 1-17 (2023)
Abstract Background Premature birth, perinatal inflammation, and life-saving therapies such as postnatal oxygen and mechanical ventilation are strongly associated with the development of bronchopulmonary dysplasia (BPD); these risk factors, alone or
Externí odkaz:
https://doaj.org/article/5ecdcfc35d2a4e6cae01ddf16f8df80b
Autor:
Berta Duran-Arqué, Manuel Cañete, Chiara Lara Castellazzi, Anna Bartomeu, Anna Ferrer-Caelles, Oscar Reina, Adrià Caballé, Marina Gay, Gianluca Arauz-Garofalo, Eulalia Belloc, Raúl Mendez
Publikováno v:
Genome Biology, Vol 23, Iss 1, Pp 1-27 (2022)
Abstract Background Vertebrate CPEB proteins bind mRNAs at cytoplasmic polyadenylation elements (CPEs) in their 3′ UTRs, leading to cytoplasmic changes in their poly(A) tail lengths; this can promote translational repression or activation of the mR
Externí odkaz:
https://doaj.org/article/f2d44e0e32c84e0b8bb39e127da46f6f
Autor:
Joan Calvet, Antoni Berenguer-Llergo, Marina Gay, Marta Massanella, Pere Domingo, Maria Llop, Ester Sánchez-Jiménez, Marta Arévalo, Jorge Carrillo, Néstor Albiñana, Gianluca Arauz-Garofalo, Cristóbal Orellana, Juan Francisco Delgado, Alejandra Serrano, Artur Llobell, Eduard Graell, María García-Manrique, Mireia Moreno, Carlos Galisteo, Enrique Casado, Noemí Navarro, Antoni Gómez, Silvia Garcia-Cirera, Menna Rusiñol, Ester Costa, Bonaventura Clotet, Marta Vilaseca, Julià Blanco, Jordi Gratacós
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract COVID-19 pathophysiology is currently not fully understood, reliable prognostic factors remain elusive, and few specific therapeutic strategies have been proposed. In this scenario, availability of biomarkers is a priority. MS-based Proteomi
Externí odkaz:
https://doaj.org/article/61224251f4f94a69b8dd5630798ff8cd
Autor:
Eduardo Pauls, Sergi Bayod, Lídia Mateo, Víctor Alcalde, Teresa Juan-Blanco, Marta Sánchez-Soto, Takaomi C. Saido, Takashi Saito, Antoni Berrenguer-Llergo, Camille Stephan-Otto Attolini, Marina Gay, Eliandre de Oliveira, Miquel Duran-Frigola, Patrick Aloy
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-23 (2021)
Abstract Background In spite of many years of research, our understanding of the molecular bases of Alzheimer’s disease (AD) is still incomplete, and the medical treatments available mainly target the disease symptoms and are hardly effective. Inde
Externí odkaz:
https://doaj.org/article/2b157e83f6584ec39487fe35e9934baf
Autor:
Marta Nadal, Stefan Prekovic, Nerea Gallastegui, Christine Helsen, Montserrat Abella, Karolina Zielinska, Marina Gay, Marta Vilaseca, Marta Taulès, Adriaan B. Houtsmuller, Martin E. van Royen, Frank Claessens, Pablo Fuentes-Prior, Eva Estébanez-Perpiñá
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-14 (2017)
The androgen receptor is crucial for the development and physiology of reproductive organs. Here the authors present the structure of the androgen receptor ligand-binding domain bound to dihydrotestosterone, identifying a homodimerization interface t
Externí odkaz:
https://doaj.org/article/e16dab5dd1bd4ba28ae91fea89b288b4
Autor:
Oriol Marimon, João M. C. Teixeira, Tiago N. Cordeiro, Valerie W. C. Soo, Thammajun L. Wood, Maxim Mayzel, Irene Amata, Jesús García, Ainara Morera, Marina Gay, Marta Vilaseca, Vladislav Yu Orekhov, Thomas K. Wood, Miquel Pons
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-10 (2016)
Classical toxin–antitoxin systems in bacteria are based on silencing of a toxin by an antitoxin that, when inactivated, releases the toxin, resulting in a change in metabolism. Here, the authors characterize an oxygen-sensitive toxin–antitoxin sy
Externí odkaz:
https://doaj.org/article/2b615b45d9b44155a5b1b341a0b019b8
Autor:
Gianluca Arauz-Garofalo, Meritxell Jodar, Mar Vilanova, Alberto de la Iglesia Rodriguez, Judit Castillo, Ada Soler-Ventura, Rafael Oliva, Marta Vilaseca, Marina Gay
Publikováno v:
Proteomes, Vol 9, Iss 2, p 21 (2021)
Protamines replace histones as the main nuclear protein in the sperm cells of many species and play a crucial role in compacting the paternal genome. Human spermatozoa contain protamine 1 (P1) and the family of protamine 2 (P2) proteins. Alterations
Externí odkaz:
https://doaj.org/article/d2be6813e3894bb785979a9194c49962
Autor:
Mercè Izquierdo-Serra, Antoni Bautista-Barrufet, Ana Trapero, Aida Garrido-Charles, Ariadna Díaz-Tahoces, Nuria Camarero, Silvia Pittolo, Sergio Valbuena, Ariadna Pérez-Jiménez, Marina Gay, Alejandro García-Moll, Carles Rodríguez-Escrich, Juan Lerma, Pedro de la Villa, Eduardo Fernández, Miquel À Pericàs, Amadeu Llebaria, Pau Gorostiza
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-12 (2016)
Biological activity can be photoswitched by light-regulated drugs, but so far only diffusible ligands have been shown to work on endogenous receptors. Here the authors develop targeted covalent photoswitches that couple to a protein target by ligand
Externí odkaz:
https://doaj.org/article/b0268ba0adfb40789719ddb649b48d0f
Autor:
Yuzhen Dan, Nevenka Radic, Marina Gay, Adrià Fernández-Torras, Gianluca Arauz, Marta Vilaseca, Patrick Aloy, Begoña Canovas, Angel R. Nebreda
Publikováno v:
Mol Cell Proteomics
p38α (encoded by MAPK14) is a protein kinase that regulates cellular responses to almost all types of environmental and intracellular stresses. Upon activation, p38α phosphorylates many substrates both in the cytoplasm and nucleus, allowing this pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ffe4b8c849491751f352adfa29ba1aa
https://doi.org/10.1016/j.mcpro.2023.100527
https://doi.org/10.1016/j.mcpro.2023.100527