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Department of Molecular & Cellular Physiology is focusing on the relevance between synaptic defect and the pathophysiology of neurodevelopmental disorders, such as autism.

Our department is focusing on the relevance between synaptic defect and the pathophysiology of neurodevelopmental disorders, such as autism.

OVERVIEW

 In our laboratory, we investigate the impact of synaptic molecules on neural circuit formation and synaptic function, as well as how their abnormalities contribute to neurodevelopmental disorders using genetically modified mouse models. Our research aims to elucidate the pathogenesis of neurodevelopmental disorders through a combination of molecular, electrophysiological, and behavioral analyses.

 Our primary research focus is on synaptic molecules such as Neurexin/Neuroligin, CASK, and IQSEC2. These molecules play a regulatory role in information transmission between nerve cells, and their functional abnormalities have been implicated in neurodevelopmental disorders. Neurexin/Neuroligin interact at the pre- and post-synaptic membranes, playing crucial roles in synaptic stabilization and functional regulation. Deficiencies or functional abnormalities in these molecules affect the formation and function of neural circuits and have been associated with neurodevelopmental disorders, such as autism spectrum disorder (ASD). CASK is a multifunctional protein involved in the formation and regulation of synaptic functions, and its genetic mutations have been linked to intellectual disabilities and developmental delays. IQSEC2 controls GTPase activated to regulate synaptic plasticity, and its abnormalities have been implicated as causes of intellectual disabilities and epilepsy. Through these studies, our laboratory aims to elucidate the pathogenesis of neurodevelopmental disorders caused by synaptic molecules. Furthermore, these findings are expected to contribute to the development of new therapeutic strategies. Our laboratory actively pursues these objectives and strives to discover further insights. We also hope that our research findings will contribute to a better understanding and improvement of treatment methods for neurodevelopmental disorders.

 In our laboratory, researchers collaborate to solve challenges using cutting-edge technology and a multifaceted approach. Our research spans a wide range, from experiments using genetically modified mouse models to electrophysiological analysis of cultured neurons and brain slices, as well as behavioral evaluations, allowing us to capture the pathogenesis of neurodevelopmental disorders from multiple perspectives.

 Our laboratory aims not only to analyze the functions of synaptic molecules and elucidate neural circuits but also to produce research results that lead to improvements in the diagnosis and treatment of neurodevelopmental disorders. We also strive to give back to society through our research findings and support patients with neurodevelopmental disorders and their families. If you are interested in our research, we encourage you to visit our laboratory's homepage or attend our presentations at conferences to learn about our latest research findings. Alternatively, we would be delighted if you could visit our laboratory or attend one of our seminars. We will continue to work on unraveling the pathogenesis of neurodevelopmental disorders and developing treatment methods.


NEWS新着情報

April 10, 2023
Marie-Louis Wronski from TUD will join as an exchange student.
April 1, 2023
Yuka Mizuno and Weichen Zang will join as master course students.
March 23, 2023
Anuradha Mehta obtained her Ph.D. degree and left for Johns Hopkins University as a post-doc researchear.

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Department of Molecular &
Cellular Physiology,
Shinshu University School of Medicine

3-1-1 Asahi, Matsumoto,
Nagano 390-8621
Japan

PHONE: +81-263-37-3775
FAX: +81-263-37-3776
E-mail: ktabuchi@shinshu-u.ac.jp

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