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How do synapses develop and what goes wrong in neuromuscular disorders?

Knowledge of the molecular mechanisms by which nerve cells communicate with each other, and how diseases affecting the communication between the brain and skeletal muscle arise, is fundamental to the development of novel treatments to combat neuromuscular disorders.

Synapses are the junctions in the brain that are essential for communication between individual nerve cells and their target organs. Changes in these junctions may lead to diseases such as autism or Alzheimer's disease and may even cause muscle paralysis. In addition, cognitive decline with age is often due to deteriorating synaptic function.

The formation and maintenance of synapses
Our goal is to understand the signaling pathways that contribute to the formation of synapses and that allow to restore them upon pathological alterations. We are particularly interested in the signals that trigger synaptic changes during learning processes, and in those important to maintain the neuromuscular synapses. We use a wide range of methods in our research - from histology, biochemistry and imaging techniques to behavioral studies on transgenic mouse models.

Neuromuscular disorders and generalized muscle weakness
Neuromuscular disorders are relatively rare genetic diseases that can result in muscle weakness, loss of mobility, and even death. Our work on animal models of such diseases and the information we gain about the signaling pathways form the basis for the development of treatments to combat these rare conditions. In addition, it provides the basics for the better understanding of the loss of muscle mass and the associated impairment of mobility with age.

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