Research

Together with our research team, we have identified the essential initial steps needed to advance understanding and word toward a cure.

Researchers aim to understand how specific PPP3CA gene variants affect calcineurin function and contribute to disease.

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Their plan includes:

• Characterizing the structure and stability of calcineurin in PPP3CA variants to see how mutations impact its function

• Investigate how PPP3CA variants affect nerve cell function in the brain using mice models

• Introduce these variants into yeast cells to study their stability and activity in a living model

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Based on these findings, future research will explore altered PPP3CA signaling in additional models, including nerve cells derived from patient stem cells (iPSCs), to identify targeted treatments like antisense oligonucleotides (ASOs) and gene editing.

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Learn more about our researchers here.