July 24, 2019

Freiburg i. Br. (Germany)


Freiburg Neuroscience Lecture


Synapses and neuropsychiatric diseases

Prof. Dr. Tobias Böckers | Ulm University

Shank proteins (also known as ProSAP) represent a family of postsynaptic scaffolding molecules (Shank1-3) that are thought to be involved in the regulation of excitatory synapses development, function and plasticity. These proteins are equipped with various domains for protein-protein interactions with many other synaptic proteins, including glutamate receptors, and other synaptic scaffolding and signaling molecules. Importantly, Shank has been implicated in diverse neuropsychiatric disorders, including Phelan-McDermid syndrome, autism spectrum disorders and schizophrenia. The mechanisms underlying these abnormalities collectively termed “Shankophaties”.

It has already been shown that ProSAP1/Shank2 knockouts mice and ProSAP2/Shank3 knockouts mice display autistic-like behavior including repetitive grooming behaviors, social interaction deficits, increased anxiety and hyperactivity. Moreover, the mutants exhibit imbalances of glutamatergic system. In search for pathomechanisms or treatment options for these neuropsychiatric diseases researchers rely on in vitro studies or animal models. Since several years now, the so-called “Yamanaka factors” can be used to reprogram cells to induced pluripotent stem cells (iPS).

We established a system to generate iPS cells from patient hair keratinocytes to specifically analyze mutations leading to inherited forms of autism. With respect to autism related mutations, we also found that iPS technology is a valuable tool to identify morphological alterations and developmental defects caused by autism gene mutations. Moreover, these cells can be used to test and screen new therapeutic agents in vitro. Overall, our studies show that iPS cell technology helps to define pathway alterations caused by disease specific mutations.


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When: Jul 24, 2019 from 12:15 PM to 01:15 PM


Institute of Biology I, Hauptstraße 1, 79104 Freiburg,

Lecture Hall, 1st Floor