Skip to main content
News Icon

News categories: Publication

Animal model for studying GPI anchor deficiencies

Intelligence deficit: Conclusion from the mouse to the human being

The group from Peter Krawitz, member of the Cluster of Excellence ImmunoSensation create an animal model for studying GPI anchor deficiencies Impaired intelligence, movement disorders and developmental delays are typical for a group of rare diseases that belong to GPI anchor deficiencies. Researchers from the University of Bonn and the Max Planck Institute for Molecular Genetics used genetic engineering methods to create a mouse that mimics these patients very well. Studies in this animal model suggest that in GPI anchor deficiencies, a gene mutation impairs the transmission of stimuli at the synapses in the brain. This may explain the impairments associated with the disease. The results are now published in the journal "Proceedings of the National Academy of Sciences of the United States of America (PNAS)".

"GPI anchor deficiencies comprise a group of rare diseases that primarily cause intellectual deficits and developmental delays," explains Prof. Dr. Peter Krawitz from the Institute for Genomic Statistics and Bioinformatics at the University Hospital Bonn, who started his research at the Charité - Universitätsmedizin Berlin and continued it at the University Hospital Bonn.


Publication

Miguel Rodríguez de los Santos, Marion Rivalan, Friederike S. David, Alexander Stumpf, Julika Pitsch, Despina Tsortouktzidis, Laura Moreno Velasquez, Anne Voigt, Daniele Mattei, Melissa Long, Guido Vogt, Alexej Knaus, Björn Fischer-Zirnsak, Lars Wittler, Bernd Timmermann, Peter N. Robinson, Denise Horn, Stefan Mundlos, Uwe Kornak, Albert J. Becker, Dietmar Schmitz, York Winter, Peter M. Krawitz: A CRISPR-Cas9-engineered mouse model for GPI anchor deficiency mirrors human phenotype and exhibits hippocampal synaptic dysfunctions, Proceedings of the National Academy of Sciences of the United States of America (PNAS), DOI: 10.1073/pnas.2014481118


Contact

Prof. Dr. med. Dipl. Phys. Peter Krawitz

Institut für Genomische Statistik und Bioinformatik

Universitätsklinikum Bonn

Tel. 0228/28714799

E-mail: pkrawitz@uni-bonn.de

Related news

Scientists that contributed to the study

News categories: Publication

New way to prevent duodenal cancer

People with the hereditary disease familial adenomatous polyposis (FAP) have a greatly increased risk of developing a malignant tumor of the duodenum. Researchers at the University Hospital Bonn (UKB) and the Cluster of Excellence ImmunoSensation2 at the University of Bonn have now discovered a mechanism in the local immune system that can drive the development of cancer. They see this as a promising new approach to preventing duodenal carcinoma in people with FAP. The results have now been published in the journal "Nature Communications".
View entry
Kathrin Leppek Publication PM

News categories: Publication

Starting points for the control of protein synthesis

The research field of "cellular IRESes" lay dormant for decades, as there was no uniform standard of reliable methods for the clear characterization of these starting points for the ribosome-mediated control of gene expression. Researchers at the University Hospital Bonn (UKB) and the University of Bonn, in collaboration with Stanford University in California (USA), have now developed a toolbox as a new gold standard for this field. The results of their work have been published in The EMBO Journal.
View entry
Pandyra Publication Graphical Abstract

News categories: Publication

Genetic mutation affects survival after viral infection

Scientists discovered that haploinsufficiency in the Pax5 gene affects antiviral responses. The study was led by Prof. Dr. Aleksandra Pandyra from the Institute of Clinical Chemistry and Clinical Pharmacology at the University Hospital Bonn in collaboration with Prof. Dr. Arndt Borkhardt, Clinic Director at the Pediatric Oncology at the University Hospital Düsseldorf. The findings were published in the latest edition of EMBO Molecular Medicine.
View entry

Back to the news overview