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News & Events for PCH Families

Check here for news and events relating to PCH2 which should be of particular interest to families.

News

Contributions From the World of Research

Overview of tRNA splicing and PCH2

Pontocerebellar hypoplasia (PCH), a rare neurodevelopmental disorder, is associated with changes in genes coding for the tRNA splicing endonuclease (TSEN). This multicomponent enzyme is involved in generating essential building blocks for protein synthesis, a process that is crucial to establish and maintain the function of healthy cells. TSEN is found in every cell of the human body but the effect of the PCH-linked mutations only manifests in specific regions of the brain; a phenomenon not understood at all yet.

To the research result

Meetings and Webinars

If you missed a webinar, you can check the list of past events to see if it was recorded.

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