Ksilink Advances PMDS Research and Disease Modelling

Jun 11, 2024 | Press releases, Publications

Strasbourg, France – Ksilink, together with our collaborators from I-Stem (Paris), has recently published a scientific paper that provides significant insights into Phelan-McDermid syndrome (PMDS), a genetic disorder that presents complex challenges in neurodevelopment and synaptic function.

The research focuses on the SHANK3 gene, which is crucial for the proper development of neural connections. SHANK3 deficiency is a common factor in PMDS, leading to a range of developmental abnormalities. Our study detailed the developmental and synaptic disruptions caused by SHANK3 mutations and used a chemical genomics approach to identify potentially causative cellular pathways.

A key aspect of the research is the identification of small molecular compounds that can address the hyperdifferentiation phenotype seen in SHANK3 deficiency. Among these, one molecule has been highlighted for its ability to positively influence synapse formation and correct neurodevelopmental pathways potentially via influencing cellular actine dynamics.

Ksilink researchers will continue to explore the cellular biology of SHANK3-deficient cells. The identified compounds together with the used cell lines provide a model for understanding the effects of SHANK3 deficiency and hold potential for future development into therapeutic interventions.

Ksilink remains dedicated to advancing the understanding of PMDS and contributing to the broader field of drug discovery. Through continued research and collaboration, we aim to provide valuable models and tools that can aid in the development of effective treatments for PMDS and related disorders.

Our scientific paper can be accessed here: https://rdcu.be/dKnYt

For further details on our research, please visit our website or reach out to us.

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