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Research Groups
Group U734
Programme: Genetic Medicine
Lead Researcher: González Manchón, Consuelo
Group members
STAFF MEMBERS: Porras Franco, María de Gracia.
ASSOCIATED MEMBERS: Martín Requero, Ángeles | Sánchez Ayuso, Matilde.
Main lines of research
• Development and characterization of conditional knockout mice for Cd40lg with specific gen abla- tion at different steps of hematopoietic develop- ment, 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), Frontotemporal Dementia (associated with muta- tions in progranulin), and Alzheimer Disease for systemic study of the mechanisms controlling cell survival/death associated with neurodegen- eration.
106 I Annual report 2015 I CIBERER
