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RESEARCH GROUPS
Group U734
Programme: Genetic Medicine Lead Researcher: González Manchón, Consuelo
Group Members
ASSOCIATED MEMBERS: Martín Requero, Ángeles | Sánchez Ayuso, Matilde Main lines of research
• Development and characterization of conditional knockout mice for Cd40lg with specific gen ablation at different steps of hematopoietic development, animal models of X-linked hyper IgM .
• Production of mice with conditional ablation of podocalyxin (Podxl) in vascular endothelial cells as a model for the study of human vasculitis .
• Molecular basis of hemorrhagic syndromes (Glanzmann thrombasthenia, Bernard-Soulier syndrome, FXIII deficiency, among others) .
• Establishment of lymphoblastoid cell lines from patiens with Amyotrophic Lateral Sclerosis (ALS), Fron- totemporal Dementia (associated with mutations in progranulin), and Alzheimer Disease for systemic study of the mechanisms controlling cell survival/death associated with neurodegeneration .
Most relevant scientific articles
• sáncHez-Guiu i, antón ai, paDilla J, Velasco F, lucía JF, lozano m, ciD a, seViVas t, lopez-FernanDez mF, Vicente V, González-mancHón c, riVera J, lozano ml . Functional and molecular characterization of inhe- rited platelet disorders in the Iberian Peninsula: results from a collaborative study . Orphanet J Rare Dis 2014 Dec, 9: 213-224
• De la encarnación a, alquézar c, esteras n, martín-requero a . Progranulin deficiency reduces CDK4/6/ pRb activation and survival of human neuroblastoma SH-SY5Y cells . Mol Neurobiol 2014, Nov 7 [Epub ahead of print] PMID:25377796
• Horrillo a, Fontela t, arias-salGaDo eG, llobat D, porras G, ayuso ms, González-mancHón c . Generation of mice with conditional ablation of the Cd40lg gene: new insights on the role of CD40L . Transgenic Res 2014 Feb, 23(1):53-66
• esteras n, alquézar c, bartolomé F, De la encarnación a, bermeJo-pareJa F, molina Ja, martín-requero a . G1/S cell cycle checkpoint dysfunction in lymphoblasts fromSporadic Parkinson’s disease patients . Mol Neurobiol 2014, Sep 3 . [Epub ahead of print] PMID:25182869
• alquezar c, esteras n, De la encarnación a, moreno F, lopez De munain a, martin-requero a . Increasing PGRN levels and blockade of the ERK pathway: Upstream and downstream strategies for the treatment of PGRN deficient frontotemporal dementia . Eur Neuropsychopharmacology, doi:10 .1016/j .euroneu- ro .2014 .12 .007
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