Neumann

Fakultäten » Medizinische Fakultät » Neuropathologie, Institut für » Prof. Dr. Adriano Aguzzi » Neumann

Completed research project

Title / Titel	TDP-43 as disease protein in FTLD-U and ALS: Transgenic models for TDP-43 proteinopathies and physiologic function of TDP-43 in the brain.
PDF	Abstract (PDF, 14 KB)
Summary / Zusammenfassung	Frontotemporal lobar degenerations (FTLDs) are the second most common cause of dementia in patients under the age of 65. We recently identified the nuclear TAR-DNA binding protein TDP-43 as the ubiquitinated disease protein accumulating in cytoplasmic and nuclear inclusions in sporadic and familial frontotemporal lobar degeneration with ubiquitin-only positive inclusions (FTLD-U), including familial cases with mutations in the progranulin (PGRN) and valosin-containing protein (VCP) gene. The mechanistic aspects of TDP-43 accumulation and their role in the pathogenesis of these conditions are unknown. So far, no animal models are available mimicking FTLD-U and TDP-43 accumulation. Therefore, the major aim of this project is to generate transgenic mouse models for TDP-43 proteinopathies by transgenic overexpression of distinct mutated TDP-43 proteins and “knock-in” approaches.
Keywords / Suchbegriffe	TDP-43, dementia, neurodegeneration, mouse models, amyotrophic lateral sclerosis
Project leadership and contacts / Projektleitung und Kontakte	Prof. Dr. Manuela Neumann, MD (Project Leader) manuela.neumann@usz.ch
Other links to external web pages	http://www.neuropathologie.usz.ch/
Funding source(s) / Unterstützt durch	Other Public Sources (e.g. Federal or Cantonal Agencies) Deutsche Forschungsgemeinschaft SFB596 (Uebergangsfinanzierung)
In collaboration with / In Zusammenarbeit mit	SFB 596 Molecular Mechanisms of Neurodegeneration Speaker: Prof. Christian Haass Department of Biochemistry Ludwig-Maximilians University Munich Germany
Duration of Project / Projektdauer	Jul 2008 to Oct 2009