Publications

2020

• Barbiero P, Lio P. (2020)
  ‍The computational patient has diabetes and a Covid
  medRxiv.
• De Toma I, Ortega M, Catuara-Solarz S et al. (2020)
  ‍Re-establishment of the epigenetic state and rescue of kinome deregulation in Ts65Dn mice upon treatment with green tea extract and environmental enrichment
  Sci Rep, 10:16023.
• Dierssen M, Fructuoso M, Martínez de Lagrán M, Perluigi M and Barone E. (2020)
  ‍Down Syndrome Is a Metabolic Disease: Altered Insulin Signaling Mediates Peripheral and Brain Dysfunctions
  Front. Neurosci., 14:670.
• Fernández-Blanco A, Dierssen M. (2020)
  ‍Rethinking Intellectual Disability from Neuro- to Astro-Pathology
  Int. J. Mol. Sci., 21(23), 9039.
• Kaspar D, Hastreiter S, Irmler M, Hrabé de Angelis M, Beckers J. (2020)
  ‍Nutrition and its role in epigenetic inheritance of obesity and diabetes across generations
  Mamm Genome, 31, 119–133 (2020).

2021

• Atas-Ozcan H, Brault V, Duchon A, Herault Y (2021)
  ‍Dyrk1a from Gene Function in Development and Physiology to Dosage Correction across Life Span in Down Syndrome
  Genes 12: 1833
• Baksh R A, Pape S E, Smith J, Strydom A. (2021)
  ‍Understanding inequalities in COVID-19 outcomes following hospital admission for people with intellectual disability compared to the general population: a matched cohort study in the UK
  BMJ Open, 11:e052482.
• Bourhala K, Guihéneuf S, Limanton E, Paquin L, Durieu E, Lozach O, Le Guével R, Charlier T, Rahmouni M, Carreaux F, Meijer L, Bazureau JP. (2021)
  ‍Design and microwave synthesis of new (5Z) 5-arylidene-2-thioxo-1,3-thiazoline-4-one and (5Z) 2-amino-5-arylidene-1,3-thiazol-4(5H)-one as new inhibitors of the protein kinase DYRK1A
  Pharmaceuticals, 14(11), 1086.
• Brault V, Nguyen TL, Flores-Gutiérrez J, Iacono G, Birling MC, Lalanne V, Meziane H, Manousopoulou A, Pavlovic G, Lindner L, Selloum M, Sorg T, Yu E, Garbis SD, Hérault Y. (2021)
  ‍Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome
  PLoS Genet, 17(9): e1009777.
• D’Agostino D, Liò P, Aldinucci M, Merelli I. (2021)
  ‍Advantages of using graph databases to explore chromatin conformation capture experiments
  BMC Bioinformatics, 22 (Suppl 2).
• De Toma I, Sierra C, Dierssen M. (2021)
  ‍Meta-analysis of transcriptomic data reveals clusters of consistently deregulated gene and disease ontologies in Down syndrome
  PLoS Comput Biol, 17(9): e1009317.
• Duchon A, del Mar Muniz Moreno M, Martin Lorenzo S, Silva de Souza MP, Chevalier C, Nalesso V, Meziane H, de Sousa PL, Noblet V, Armspach J, Brault V, Herault Y. (2021)
  ‍Multi-influential genetic interactions alter behaviour and cognition through six main biological cascades in Down syndrome mouse models
  Human Molecular Genetics, Volume 30, Issue 9, 1 May 2021, Pages 771–788.
• Emes D, Hüls A, Bäumer N, Dierssen M, Puri S, Russell L A, Sherman S L, Strydom A, Bargagna S, Brandão A C, Costa A C S, Feany P T, Chicoine B, Ghosh S, Rebillat A-S, Sgandurra G, Valentini D, Rohrer T R, Levin J, Lakhanpaul M. (2021)
  ‍COVID-19 in Children with Down Syndrome: Data from the Trisomy 21 Research Society Survey
  Journal of Clinical Medicine, 10(21):5125.
• Espeso-Gil S, Holik AZ, Bonnin S, Jhanwar S, Chandrasekaran S, Pique-Regi R, Albaigès-Ràfols J, Maher M, Permanyer J, Irimia M, Friedländer MR, Pons-Espinal M, Akbarian S, Dierssen M, Maass PG, Hor CN, Ossowski S. (2021)
  ‍Environmental Enrichment Induces Epigenomic and Genome Organization Changes Relevant for Cognition
  Front. Mol. Neurosci.,14:664912.
• Hüls A, Costa ACS, Dierssen M et al. (2021)
  ‍Medical vulnerability of individuals with Down syndrome to severe COVID-19–data from the Trisomy 21 Research Society and the UK ISARIC4C survey
  EClinical Medicine 33: Article number 100769
• Lindberg M, Meijer L. (2021)
  ‍Dual-specificity, tyrosine phosphorylation-regulated kinases (DYRKs) and cdc2-like kinases (CLKs) in human disease, an overview
  Int. J. Mol. Sci., 22(11), 6047.
• Martinez de Lagran M, Elizalde‐Torrent A, Paredes R, Clotet B, Dierssen M. (2021)
  ‍Lamivudine, a Reverse Transcriptase Inhibitor, Rescues Cognitive Deficits in a Mouse Model of Down Syndrome
  Crossref, 10.
• Real de Asua D, Mayer MA, del Carmen Ortega M, Borrel JM, de Jesús Bermejo T, González-Lamuño D, Manso C, Moldenhauer F, Carmona-Iragui M, Hüls A, Sherman SL, Strydom A, de la Torre R, Dierssen M on behalf of the Spanish Trisomy 21 Research Society COVID-19 Taskforce. (2021)
  ‍Comparison of COVID-19 and Non-COVID-19 Pneumonia in Down Syndrome
  J. Clin. Med., 10(16), 3748.
• Sierra C, De Toma I, Cascio LL, Vegas E, Dierssen M. (2021)
  ‍Social Factors Influence Behavior in the Novel Object Recognition Task in a Mouse Model of Down Syndrome
  Front Behav Neurosci, 15: 772734.

2022

• Aslam A, Baksh A, Pape S, Strydom A, Gulliford M, Chan L. (2022)
  ‍Diabetes and Obesity in Down Syndrome Across the Lifespan: A Retrospective Cohort Study Using U.K. Electronic Health Records
  Diabetes Care 1, 45 (12): 2892–2899.
• Baksh R A, Strydom A, Pape S E, Chan L F, Gulliford M C. (2022)
  ‍Susceptibility to COVID-19 Diagnosis in People with Down Syndrome Compared to the General Population: Matched-Cohort Study Using Primary Care Electronic Records in the UK
  J Gen Intern Med, 37.
• Costa A, Brandao A C, Real de Asua D, Strydom A, Lunsky Y, Ghosh S, Chicoine B, Sgandurra G, Carfì A, Levin J, Hüls A, Lakhanpaul M. (2022)
  ‍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
  Vaccines, 10(4):530.
• Duchon A, del Mar Muñiz Moreno M, Chevalier C, Nalesso V, Andre P, Fructuoso-Castellar M, Mondino M, Po C, Noblet V, Birling M-C, Potier M-C, Herault Y. (2022)
  ‍Ts66Yah, a mouse model of Down syndrome with improved construct and face validity
  Dis Model Mech, 15 (12): dmm049721.
• Pinku H, Hüls A, Feany P T, Baumer N, Dierssen M, Bargagna S, Costa A C S, Chicoine B A, Rebillat A-S, Sgandurra G, Valentini D, Rohrer R T, Levin J, Lakhanpaul M, Carfì A, Sherman S L, Strydom, A, Ghosh S. (2022)
  ‍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
  Journal of Global Health.
• Souchet B, Audrain M, Yu Y, Lindberg MF, Orefice NS, Rey E, Cartier N, Janel N, Meijer L, Braudeau J. (2022)
  ‍Cerebral phospho-tau acts synergistically with soluble Aβ42 leading to Mild Cognitive Impairment in AAV-AD rats
  J Prev Alzheimers Dis 9: 480–490

2023

• Baksh R, Pape S, Chan L, Aslam A, Gulliford M, Strydom A. (2023)
  ‍Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records
  The Lancet Public Health, 2468-2667.
• Carriba P, Lorenzón N, Dierssen M (2023)
  ‍Neurodevelopmental disorders: 2023 update
  Free Neuropathology 4: 8 PDF
• Ciravegna G, Barbiero P, Giannini F et al. (2023)
  ‍Logic Explained Networks
  Artificial Intelligence 314, Article number: 103822 PDF
• Espinosa Zarlenga M, Barbiero P, Shams Z et al. (2023)
  ‍Towards Robust Metrics For Concept Representation Evaluation
  Proceedings of the AAAI Conference on Artificial Intelligence, 37(10): AAAI-23 Technical Tracks 10 PDF
• Fernández-Blanco A, Zamora-Moratalla A, Sabariego-Navarro M, Dierssen M (2023)
  ‍Defective engram allocation contributes to impaired fear memory performance in Down syndrome
  bioRxiv, Article number: 2023.01.11.523460. PDF
• Lindberg M, Deau E, Arfwedson J, George N, George P, Alfonso P, Meijer L. (2023)
  ‍Comparative efficacy and selectivity of pharmacological inhibitors of DYRK and CLK protein kinases
  J. Med. Chem. 66, 4106-4130
• Martinez De Lagran M, Lorenzon N, Dierssen M (2023)
  ‍Impact of dual specificity tyrosine phosphorylation regulated kinase 1a overexpression on the comorbidity observed in individuals with down syndrome related to cognitive dysfunction and obesity
  Neuroscience Applied 2 (Supplement 2): 102890 PDF
• Mgaieth F, Baksh RA, Startin CM, et al. (2023)
  ‍Exploring semantic verbal fluency patterns and their relationship to age and Alzheimer’s disease in adults with Down syndrome
  Alzheimer's Dement 19: 5129–5137. PDF
• Muñiz Moreno, M.M., Gavériaux-Ruff, C. & Herault, Y. (2023)
  ‍Gdaphen, R pipeline to identify the most important qualitative and quantitative predictor variables from phenotypic dataGdaphene
  BMC Bioinformatics 24, Article number: 28

2024

• Fernández-Blanco Á, Sierra C, Tejido C, Dierssen M. (2024)
  ‍Beyond Quiescent and Active: Intermediate Microglial Transcriptomic States in a Mouse Model of Down Syndrome
  International Journal of Molecular Sciences. 25(6): 3289. PDF

BACKGROUND LITERATURE

• Turcot, V. et al. (2018)
  ‍Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
  Nat Genet 50, 26-41
• Karmiloff-Smith, A. et al. (2016)
  ‍The importance of understanding individual differences in Down syndrome
  F1000Research, 5 (F1000 Faculty Rev): 389
• Wilson, B. et al. (2015)
  ‍Care of Adults With Intellectual and Developmental Disabilities: Down Syndrome
  FP Essent, 439: 20-5