Article
Chemistry, Medicinal
Yasmeen T. AlNajjar, Moustafa Gabr, Ahmed K. ElHady, Mohamed Salah, Gerrit Wilms, Ashraf H. Abadi, Walter Becker, Mohammad Abdel-Halim, Matthias Engel
Summary: The study found that dual inhibitors with higher selectivity for Dyrk1A and inhibition of alpha-synuclein aggregation present a potential novel therapeutic strategy for Parkinson's disease. Compound b27, displaying the highest inhibitory potency and selectivity, could be a promising drug candidate for PD treatment.
EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY
(2022)
Review
Clinical Neurology
Claudia Pisanu, Giovanni Severino, Ilario De Toma, Mara Dierssen, Paolo Fusar-Poli, Massimo Gennarelli, Pietro Lio, Elisabetta Maffioletti, Eduard Maron, Divya Mehta, Alessandra Minelli, Marie-Claude Potier, Alessandro Serretti, David Stacey, Roos van Westrhenen, Laura Xicota, Bernhard T. Baune, Alessio Squassina
Summary: The study focused on investigating the expression levels of genes involved in drug disposition and action in tissues of pharmacological importance in patients treated with psychotropic drugs. Promising findings include the role of genes in inflammation, neurotransmission, and mitochondrial function. However, studies on antipsychotics or mood stabilizers often had smaller sample sizes and lacked replication compared to studies on antidepressants.
EUROPEAN NEUROPSYCHOPHARMACOLOGY
(2022)
Article
Clinical Neurology
Laura Xicota, Ilario De Toma, Elisabetta Maffioletti, Claudia Pisanu, Alessio Squassina, Bernhard T. Baune, Marie Claude Potier, David Stacey, Mara Dierssen
Summary: Pharmacotranscriptomics is a promising field that utilizes transcriptomic studies to predict treatment response in neurological and psychiatric disorders. This review provides an overview of the biological foundations, methodological approaches, and potential markers and sources of RNA in pharmacotranscriptomic studies. It also discusses the suitability and indications of different techniques and provides recommendations for future directions.
EUROPEAN NEUROPSYCHOPHARMACOLOGY
(2022)
Article
Multidisciplinary Sciences
Marco Papenfuss, Svenja Luetzow, Gerrit Wilms, Aaron Babendreyer, Maren Flasshoff, Conrad Kunick, Walter Becker
Summary: This study reveals the differences between two closely related protein kinases during initial folding and as mature kinases. DYRK1B has a weaker capacity for autonomous maturation compared to DYRK1A in a bacterial expression system. This difference is mainly attributed to the divergent sequences of the C-terminal lobes of the catalytic domain. Additionally, the mature kinase domain of DYRK1B shows lower thermal stability than that of DYRK1A under heat challenge.
SCIENTIFIC REPORTS
(2022)
Article
Medicine, General & Internal
Sergi Llambrich, Ruben Gonzalez, Julia Albaiges, Jens Wouters, Fopke Marain, Uwe Himmelreich, James Sharpe, Mara Dierssen, Willy Gsell, Neus Martinez-Abadias, Greetje Vande Velde
Summary: Using a mouse model of Down syndrome, we found that skull dysmorphologies occur before brain anomalies, and there is reduced integration and delayed acquisition of neurodevelopmental traits. Furthermore, we discovered that treatment affects the magnitude of integration and covariation patterns between the brain and skull.
FRONTIERS IN MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Thomas Spruce, Mireya Plass, Andre Gohr, Debashish Ray, Maria Martinez de Lagran, Gregor Rot, Ana Novoa, Demian Burguera, Jon Permanyer, Marta Miret, Hong Zheng, Maurice S. Swanson, Quaid Morris, Moises Mallo, Mara Dierssen, Timothy R. Hughes, Barbara Pernaute, Manuel Irimia
Summary: Understanding the regulatory interactions that control gene expression during the development of novel tissues is a key goal of evolutionary developmental biology. Here, we show that Mbnl3 has evolved a novel placental function in eutherian mammals as a result of evolutionary specialization. Mbnl3 loss leads to increased placental growth and fetal resource allocation under limiting conditions.
Article
Medicine, General & Internal
Sergi Angel Bonilla-Pons, Shoma Nakagawa, Elena Garreta Bahima, Alvaro Fernandez-Blanco, Martina Pesaresi, Justin Christopher D'Antin, Ruben Sebastian-Perez, Daniela Greco, Eduardo Dominguez-Sala, Raul Gomez-Riera, Rafael Ignacio Barraquer Compte, Mara Dierssen, Nuria Montserrat Pulido, Maria Pia Cosma
Summary: This study discovered that cell fusion can occur between human müller glia and adult stem cells in the human retina, resulting in partial regeneration of neurons. The results suggest that cell fusion-mediated therapy may be a potential regenerative approach for treating human retinal dystrophies.
Article
Immunology
Anke Huls, Patrick T. Feany, Sophia Isabella Zisman, Alberto C. S. Costa, Mara Dierssen, Robert Balogh, Stefania Bargagna, Nicole T. Baumer, Ana Claudia Brandao, Angelo Carfi, Brian Allen Chicoine, Sujay Ghosh, Monica Lakhanpaul, Johannes Levin, Yona Lunsky, Coral Manso, Eitan Okun, Diego Real de Asua, Anne-Sophie Rebillat, Tilman R. Rohrer, Giuseppina Sgandurra, Diletta Valentini, Stephanie L. Sherman, Andre Strydom
Summary: Individuals with Down syndrome have a high uptake of COVID-19 vaccines with minimal side effects and breakthrough infections. Unvaccinated individuals were often younger, previously recovered from COVID-19, and not vaccinated against other recommended vaccines.
Article
Genetics & Heredity
Cecile Cieuta-Walti, Aida Cuenca-Royo, Klaus Langohr, Claire Rakic, Ma Angeles Lopez-Vilchez, Julian Lirio, Domingo Gonzalez-Lamuno Leguina, Teresa Bermejo Gonzalez, Jordi Garcia Garcia, Maria Rimblas Roure, Ana Aldea-Perona, Laura Forcano, Maria Gomis-Gonzalez, Sebastia Videla Ces, Florence Lacaille, Aime Ravel, Clotilde Mircher, Herve Walti, Nathalie Janel, Julien Dairou, Marilyne Levy, Sophie Durand, Mara Dierssen, Silvia Sacco, Rafael de la Torre Fornell
Summary: This study evaluated the safety and tolerability of epigallocatechin gallate (EGCG) in children with Down syndrome (DS) and examined its effects on cognitive function and functionality. The results indicated that EGCG was safe and well-tolerated in children with DS, but did not show improvement in cognitive and functional performance.
GENETICS IN MEDICINE
(2022)
Article
Cell Biology
Maria Martinez de Lagran, Aleix Elizalde-Torrent, Roger Paredes, Bonaventura Clotet, Mara Dierssen
Summary: Elevated activity of retrotransposons is associated with various neurodegenerative and neurodevelopmental diseases. This study treated a mouse model of Down syndrome with a reverse transcriptase inhibitor and observed significant improvement in neurobehavioral phenotypes and complete recovery of hippocampal-dependent recognition memory.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2022)
Article
Public, Environmental & Occupational Health
Halder Pinku, Anke Huls, Patrick T. Feany, Nicole Baumer, Mara Dierssen, Stefania Bargagna, Alberto Cs Costa, Brian A. Chicoine, Anne-Sophie Rebillat, Giuseppina Sgandurra, Diletta Valentini, R. Tilman Rohrer, Johannes Levin, Monica Lakhanpaul, Angelo Carfi, Stephanie L. Sherman, Andre Strydom, Sujay Ghosh
Summary: This study compares the clinical presentation, severity, and treatment differences of COVID-19 patients with Down syndrome (DS) between India and several high-income countries (HICs). The results show that patients from India are younger, have more comorbidities associated with severe COVID-19, and have higher hospitalization rates and COVID-19-related medical complications. Treatment strategies also differ, with more frequent use of antibiotics in India. The severity scores indicate that DS patients from India have more severe outcomes compared to European and US cases.
JOURNAL OF GLOBAL HEALTH
(2022)
Review
Neurosciences
Adrian Arias, Linus Manubens-Gil, Mara Dierssen
Summary: A paradigm shift is occurring in neuroscience and life sciences, converting biomedical research into a quantitative and predictive science. New experimental tools and techniques allow for quantitative description and exploration of new features in living systems, with implications for understanding brain function and diseases.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Review
Clinical Neurology
Nicola Lorenzon, Juanluis Musoles-Lleo, Federica Turrisi, Maria Gomis-Gonzalez, Rafael De La Torre, Mara Dierssen
Summary: In the last decade, efforts have been made to find new interventions for improving cognition in individuals with Down syndrome. However, the translation of specific findings into effective therapeutic strategies has been slow, leading to reduced credibility of mouse studies and failures at the clinical level.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Article
Neurosciences
Mireia Ortega, Ilario De Toma, Alvaro Fernandez-Blanco, Anna Calderon, Lucia Barahona, Ramon Trullas, Eduard Sabido, Mara Dierssen
Summary: This study found that Dyrk1A overexpression affects oxidative phosphorylation and mitochondrial function in the cerebellum, and the EGCG in green tea extract can partially restore these changes.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Meeting Abstract
Clinical Neurology
K. Ivankovic, A. Principe, J. Montoya, L. Manubens-Gil, M. Dierssen, R. Rocamora