Meet the jury seminar: One protein, multiple phenotypes: the hurdles of MPZ and CMT neuropathies

We kindly invite you to join the ‘Meet the Jury’ seminar, featuring international speakers to discuss their research on 'One protein, multiple phenotypes: the hurdles of MPZ and CMT neuropathies'.

This seminar will be given by:

• Prof. Dr. Maurizio D’Antonio (Division of Genetics and Cell Biology, San Raffaele Scientific, Milan, Italy)

Demyelinating Charcot-Marie-Tooth diseases (CMT1) are the most common form of hereditary neuropathies and are usually caused by mutations in genes expressed in myelinating Schwann cells, like PMP22 and MPZ. Although effective treatments are still missing, the generation of animal models has helped in the understanding of the multiple cellular pathomechanisms underpinning these complex diseases. Our work on MPZ models has highlighted how most of the mutations act through different gain of function mechanisms originating from diverse intracellular localization. Here I will describe how mutations in MPZ can disrupt the Schwann cell protein quality control systems leading to the activation of cell stress pathways and how these can be pharmacologically targeted for therapeutic intervention. Finally, I will also show that other MPZ mutations act via mechanisms originating from within myelin, disrupting the myelinating process in a cell autonomous way, but also directly causing axonal degeneration via currently unknown non-cell autonomous effects.

This is a Meet the Jury seminar. Additional information on how to apply for these seminars can be found here.

For whom?

• PhD students and postdocs

When and where?

• May 17, 2024 - 10:00-11:00
• Campus Diepenbeek, Building D, Room B5

Registration?

• You can register via the following link.