Browsing by Author "Dierssen, Mara"

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  • A dynamic in vitro model of Down syndrome neurogenesis with trisomy 21 gene dosage correction
    Bansal, Prakhar; Banda, Erin C.; Glatt-Deeley, Heather R.; Stoddard, Christopher E.; Linsley, Jeremy W.; Arora, Neha; Deleschaux, Cécile; Ahern, Darcy T.; Kondaveeti, Yuvabharath; Massey, Rachael E.; Nicouleau, Michael; Wang, Shijie; Sabariego Navarro, Miguel; Dierssen, Mara; Finkbeiner, Steven; Pinter, Stefan F. (American Association for the Advancement of Science (AAAS), 2024)
    Excess gene dosage from chromosome 21 (chr21) causes Down syndrome (DS), spanning developmental and acute phenotypes in terminal cell types. Which phenotypes remain amenable to intervention after development is unknown. ...
  • A new cognitive evaluation battery for Down syndrome and its relevance for clinical trials
    Sola Llopis, Susana de; Torre Fornell, Rafael de la; Sánchez Benavides, Gonzalo; Benejam, Bessy; Cuenca Royo, Aida Ma, 1981-; Del Hoyo Soriano, Laura; Rodríguez, Joan; Catuara Solarz, Silvina, 1986-; Sánchez Gutiérrez, Judit; Dueñas-Espín, Iván, 1979-; Hernández, Gimena; Peña-Casanova, J. (Jordi); Langohr, Klaus; Videla, Sebastià; Blehaut, Henry; Farré Albaladejo, Magí; Dierssen, Mara; TESDAD Study Group (Frontiers, 2015)
    The recent prospect of pharmaceutical interventions for cognitive impairment of Down syndrome (DS) has boosted a number of clinical trials in this population. However, running the trials has raised some methodological ...
  • A phase 1, randomized double-blind, placebo controlled trial to evaluate safety and efficacy of epigallocatechin-3-gallate and cognitive training in adults with Fragile X syndrome
    Torre Fornell, Rafael de la; De Sola Llopis, Susana; Xicota Vila, Laura, 1987-; Cuenca Royo, Aida Ma, 1981-; Rodriguez, Joan; Gomis González, Maria, 1988-; Hernández, Gimena; Del Hoyo Soriano, Laura; Ozaita Mintegui, Andrés, 1969-; Dierssen, Mara; TESXF Study Group; Principe, Alessandro; Espadaler, Josep María; Roca, Laia; Del Hoyo Soriano, Laura; Farré Albaladejo, Magí; Fitó Colomer, Montserrat; León Jorba, Alba; Banea, Ovideo; Maldonado, Rafael, 1961-; Busquets Garcia, Arnau, 1985- (Elsevier, 2020)
    Background & aims: Despite the wide spectrum of experimental compounds tested in clinical trials, there is still no proven pharmacological treatment available for Fragile-X syndrome (FXS), since several targeted clinical ...
  • A specific prelimbic-nucleus accumbens pathway controls resilience versus vulnerability to food addiction
    Domingo Rodriguez, Laura, 1992-; Ruiz de Azua, Iñigo; Domínguez, Eduardo; Senabre, Eric; Serra, Irene; Kummer, Sami, 1985-; Navandar, Mohit; Baddenhausen, Sarah; Hofmann, Clementine; Andero, Raül; Gerber, Susanne; Navarrete, Marta; Dierssen, Mara; Lutz, Beat; Martín García, Elena, 1975-; Maldonado, Rafael, 1961- (Nature Research, 2020)
    Food addiction is linked to obesity and eating disorders and is characterized by a loss of behavioral control and compulsive food intake. Here, using a food addiction mouse model, we report that the lack of cannabinoid ...
  • An integrated precision medicine approach in major depressive disorder: a study protocol to create a new algorithm for the prediction of treatment response
    Baune, Bernhard T.; Domínguez Barragán, Jorge; Donlo, Chus; Martínez de Lagrán Cabredo, María; Mayer, Miguel Ángel, 1960-; Perera Bel, Júlia; Sierra, Cesar; Sanz, Ferran; Dierssen, Mara (Frontiers, 2024)
    Major depressive disorder (MDD) is the most common psychiatric disease worldwide with a huge socio-economic impact. Pharmacotherapy represents the most common option among the first-line treatment choice; however, only ...
  • Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders
    Mercader Bigas, Josep Maria; Saus Martínez, Ester; Agüera, Zaida; Bayés, Mònica; Boni, Claudette; Carreras, Anna; Cellini, Elena; Cid Ibeas, Rafael de; Dierssen, Mara; Escaramís, Geòrgia; Fernández Aranda, Fernando; Forcano, Laura; Gallego, Xavier; González Ruiz, Juan Ramón; Gorwood, Philip; Hebebrand, Johannes; Hinney, Anke; Nacmias, Benedetta; Puig, Anna; Ribasés, Marta; Ricca, Valdo; Romo, Lucía; Sorbi, Sandro; Versini, Audrey; Gratacós Mayora, Mònica; Estivill, Xavier, 1955- (Oxford University Press, 2008)
    Eating disorders (EDs) are complex psychiatric diseases that include anorexia nervosa and bulimia nervosa, and have higher than 50% heritability. Previous studies have found association of BDNF and NTRK2 to ED, while animal ...
  • Beyond quiescent and active: Intermediate microglial transcriptomic states in a mouse model of down syndrome
    Fernández Blanco, Álvaro; Sierra, Cesar; Tejido, Clara; Dierssen, Mara (MDPI, 2024)
    Research on microglia in Down syndrome (DS) has shown that microglial activation, increased inflammatory gene expression, and oxidative stress occur at different ages in DS brains. However, most studies resulted in simplistic ...
  • Big behavioral data analysis : computational methods for the study of continuous recordings behavior
    Espinosa-Carrasco, José (Universitat Pompeu Fabra, 2018-05-14)
    New high-throughput behavioral systems enable the recording of continuous behavioral sequences with an unprecedented richness of signals and a deep temporal resolution. Automated systems offer neuroscience the opportunity ...
  • Biomarkers and cognitive function in Down syndrome : validation for phenotyping cognitive impairment
    Xicota Vila, Laura (Universitat Pompeu Fabra, 2018-04-26)
    Clinical trials seeking to improve cognitive performance are in dire need of biochemical biomarkers that reflect the processes taking place in the brain. In Down syndrome, this information is crucial to understand the ...
  • Building the future therapies for Down syndrome: the third international conference of the T21 research society
    Dierssen, Mara; Martínez de Lagrán Cabredo, María; Vazquez, Anna; Bhattacharyya, Anita (Karger (S. Karger AG), 2021)
    Research focused on Down syndrome has increased in the last several years to advance understanding of the consequences of trisomy 21 (T21) on molecular and cellular processes and, ultimately, on individuals with Down ...
  • Cannabinoid type-1 receptor blockade restores neurological phenotypes in two models for Down syndrome
    Navarro-Romero, Alba; Vázquez-Oliver, Anna; Gomis González, Maria, 1988-; Garzón-Montesinos, Carlos; Falcón-Moya, Rafael; Pastor, Antonio; Martín García, Elena, 1975-; Pizarro Lozano, Mª Nieves; Busquets Garcia, Arnau, 1985-; Revest, Jean-Michel; Piazza, Pier Vincenzo; Bosch, Fatima; Dierssen, Mara; Torre Fornell, Rafael de la; Rodríguez-Moreno, Antonio; Maldonado, Rafael, 1961-; Ozaita Mintegui, Andrés, 1969- (Elsevier, 2019)
    Intellectual disability is the most limiting hallmark of Down syndrome, for which there is no gold-standard clinical treatment yet. The endocannabinoid system is a widespread neuromodulatory system involved in multiple ...
  • Combined Treatment With Environmental Enrichment and (-)-Epigallocatechin-3-Gallate Ameliorates Learning Deficits and Hippocampal Alterations in a Mouse Model of Down Syndrome
    Catuara Solarz, Silvina, 1986-; Espinosa-Carrasco, José; Erb, Ionas; Langohr, Klaus; Gonzalez, Juan Ramon; Notredame, Cedric; Dierssen, Mara (Society for Neuroscience, 2016)
    Intellectual disability in Down syndrome (DS) is accompanied by altered neuro-architecture, deficient synaptic plasticity, and excitation-inhibition imbalance in critical brain regions for learning and memory. Recently, ...
  • Comparison of COVID-19 and non-COVID-19 pneumonia in Down syndrome
    Real de Asua, Diego; Mayer, Miguel Ángel, 1960-; Ortega, María del Carmen; Borrel, Jose M.; Bermejo, Teresa de Jesús; González Lamuño, Domingo; Manso, Coral; Moldenhauer, Fernando; Carmona Iragui, María; Hüls, Anke; Sherman, Stephanie L.; Strydom, Andre; Torre Fornell, Rafael de la; Dierssen, Mara (MDPI, 2021)
    Whether the increased risk for coronavirus disease 2019 (COVID-19) hospitalization and death observed in Down syndrome (DS) are disease specific or also occur in individuals with DS and non-COVID-19 pneumonias is unknown. ...
  • Computationl and modeling approaches to multi-scale anatomical description of neuronal circuitry
    Manubens-Gil, Linus, 1989- (Universitat Pompeu Fabra, 2018-12-20)
    During the last century the nervous system has been mainly studied from a reductionistic approach, based on the hypothesis that understanding in depth single neurons or limited neuronal populations would lead to general ...
  • COVID-19 in children with down syndrome: data from the trisomy 21 Research Society Survey
    Emes, David; Hüls, Anke; Baumer, Nicole; Dierssen, Mara; Puri, Shiela; Russell, Lauren; Sherman, Stephanie L.; Strydom, Andre; Bargagna, Stefania; Brandão, Ana Cláudia; Costa, Alberto C.S.; Feany, Patrick T.; Chicoine, Brian Allen; Ghosh, Sujay; Rebillat, Anne-Sophie; Sgandurra, Giuseppina; Valentini, Diletta; Roher, Tilman R.; Levin, Johannes; Lakhanpaul, Monica; Trisomy Research Society Covid-Initiative Study Group (MDPI, 2021)
    Adults with Down Syndrome (DS) are at higher risk for severe outcomes of coronavirus disease 2019 (COVID-19) than the general population, but evidence is required to understand the risks for children with DS, which is ...
  • COVID-19 vaccination of individuals with Down syndrome-data from the trisomy 21 Research Society Survey on Safety, Efficacy, and Factors Associated with the Decision to be Vaccinated
    Hüls, Anke; Dierssen, Mara; Strydom, Andre (MDPI, 2022)
    Individuals with Down syndrome (DS) are among the groups with the highest risk for severe COVID-19. Better understanding of the efficacy and risks of COVID-19 vaccines for individuals with DS may help improve uptake of ...
  • Differences in clinical presentation, severity, and treatment of COVID-19 among individuals with Down syndrome from India and high-income countries: Data from the Trisomy 21 Research Society survey
    Pinku, Halder; Hüls, Anke; Feany, Patrick T.; Baumer, Nicole; Dierssen, Mara; Bargagna, Stefania; Costa, Alberto C.S.; Chicoine, Brian Allen; Rebillat, Anne-Sophie; Sgandurra, Giuseppina; Valentini, Diletta; Rohrer, R. Tilman; Levin, Johannes; Lakhanpaul, Monica; Carfì, Angelo; Sherman, Stephanie L.; Strydom, Andre; Ghosh, Sujay; Trisomy Research Society Covid-Initiative Study Group (International Society of Global Health, 2022)
    Background: People with Down syndrome (DS) are one of the highest risk groups for mortality associated with COVID-19, but outcomes may differ across countries due to different co-morbidity profiles, exposures, and societal ...
  • Down syndrome is a metabolic disease: altered insulin signaling mediates peripheral and brain dysfunctions
    Dierssen, Mara; Fructuoso, Marta; Martínez de Lagrán Cabredo, María; Perluigi, Marzia; Barone, Eugenio (Frontiers, 2020)
    Down syndrome (DS) is the most frequent chromosomal abnormality that causes intellectual disability, resulting from the presence of an extra complete or segment of chromosome 21 (HSA21). In addition, trisomy of HSA21 ...
  • DREAM controls the on/off switch of specific activity-dependent transcription pathways
    Mellström, Britt; Sahún, Ignasi; Ruiz Nuño, Ana; Murtra, Patricia; Gómez Villafuertes, Rosa; Savignac, Magalí; Oliveros, Juan C.; González, Paz; Kastanauskaite, Asta; Knafo, Shira; Zhuo, Min; Higuera Matas, Alejandro; Errington, Michael L.; Maldonado, Rafael, 1961-; De Felipe, Javier; Jefferys, John G.R.; Bliss, Tim V. P.; Dierssen, Mara; Naranjo, José R. (American Society for Microbiology, 2014)
    Changes in nuclear Ca(2+) homeostasis activate specific gene expression programs and are central to the acquisition and storage of information in the brain. DREAM (downstream regulatory element antagonist modulator), also ...
  • Dyrk1A is dynamically expressed on subsets of motor neurons and in the neuromuscular junction: possible role in down syndrome
    Arque, Gloria; Casanovas, Anna; Dierssen, Mara (Public Library of Science (PLoS), 2013)
    Individuals with Down syndrome (DS) present important motor deficits that derive from altered motor development of infants and young children. DYRK1A, a candidate gene for DS abnormalities has been implicated in motor ...

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