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Prof. Dr.
Susann Schweiger

Professor for Human Genetics, Director of Institute for Human Genetics, University Medical Center Mainz

Contact

Institute for Human Genetics
University Medical Center
Johannes Gutenberg-University Mainz
Langenbeckstr. 1
55131 Mainz

+49 (0) 6131 17 5790

CRC 1193 PROJECTS

Expertise

Cell Biology, Human Genetics

mTOR kinase plays an important role in the local synthesis of proteins in the brain that are needed for synaptic plasticity and learning and memory. Many of the gene defects found in neurodevelopmental and neurodegenerative disorders relate to dysfunction of mTOR signallling. Best examples are Rett syndrome and fragile X syndrome but also Huntington’s disease. Loooking at the mechanisms underlying intellectual disablity in Opitz BBB/G syndrome we have found that the MID1 ubiquitin ligase regulates mTOR activity in the brain. In current work we are looking at mTOR activity and its possibilities of regulation in intellectual disability syndromes and try to connect mTOR dysfunction with neuronal pathology. Furthermore, we are using the MID1 ubiquitin ligase as a promising target in a drug screening programme to develop compounds that are influencing mTOR activity. Such compound should have therapeutic effects in both, neurodegenerative disorders such as Huntington’s disease and intellectual disability syndromes.

Vita

Since 09/2012

Professor for Human Genetics, University Hospital Mainz Director Institute for Human Genetics, University Hospital Mainz

08/2007 – 08/2012

Professor for Molecular Medicine, Ninewells Hospital, Dundee Academic Lead of the Department for Human Genetics

05/2010 – 08/2012

Deputy Head of the Wellcome Trust Centre for Molecular Medicine

08/2008 – 05/2010

Head of the Centre for Oncology and Molecular Medicine

04/2005 – 08/2007

Lichtenberg Professor for Clinical and Molecular Genetics, Charité, Berlin

1990 – 1992

M.D.-Ph.D. thesis: Institute of Organic Chemistry and Biochemistry, Freiburg, Germany “Purification, characterization and crystallization of the membrane protein Maltoporin, the membrane-associated proteins Adrenodoxin Reduktase, and the tissue-plasminogene activator tPA”

Publications

Deciphering Developmental Disorders Study (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature 542(7642):433-438.

>> Link to PubMed

Krauß S, Griesche N, Jastrzebska E, Chen C, Rutschow D, Achmüller C, Dorn S, Boesch SM, Lalowski M, Wanker E, Schneider R, Schweiger S (2013) Translation of HTT mRNA with expanded CAG repeats is regulated by the MID1-PP2A protein complex. Nat Commun 4:1511. 

>> Link to PubMed

Liu E, Knutzen CA, Krauss S, Schweiger S, Chiang GG (2011) Control of mTORC1 signaling by the Opitz Syndrome protein MID1. Proc Natl Acad Sci USA 108: 8680-8685.

>> Link to PubMed

Kickstein E, Krauss S, Thornhill P, Rutschow D, Zeller R, Sharkey  J, Williamson R, Fuchs M, Köhler A, Glossmann H, Schneider R,  Sutherland C, Schweiger S (2010) The Biguanide Metformin acts on tau phosphorylation via mTOR/PP2A signaling. Proc Natl Acad Sci USA 107: 21830-21835.

>> Link to PubMed

Trockenbacher A, Suckow V, Foerster J, Winter J, Krauss S, Ropers HH, Schneider R, Schweiger S (2001) MID1, mutated in Opitz syndrome encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Nat Gen 29(3):287-294.

>> Link to PubMed

Editorial and Scientific Advisory Board

Reviewer for Nature Communications, PNAS, Journal of Biological Chemistry and Human Genetics

Reviewer for the DFG and the medical research council (UK)

Awards, Grants and Honor

1987 – 1993

Member of “Studienstiftung des Deutschen Volkes”

1995 – 1997

Research fellowship from the Max-Planck Society

2005 – 2010

Lichtenberg professorship of “Volkswagenstiftung”

Research grant: DPac programme-Glaxo-Smith Kline: GlaxoSmithKline: „The MID1/PP2A protein complex: a novel tool to develop a therapy for Huntington’s disease“

EraNet Neuron: 2014 – 2017: „Molecular Mechanisms of Brain Function in mTOR-Deficient Intellectual Disability Syndromes”