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Research group/lab  |  R.K. (Renate) Hukema, PhD

FMR1 premutation & FXTAS

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by a CGG repeat expansion in the FMR1 gene.

About our research group/lab

Our research

Background information

Our group works on understanding the role of expanded nucleotide repeats in neurological disorders, with the main focus on the CGG repeat in the FMR1 gene. We study the underlying gain-of-function mechanisms of FXTAS and apply the knowledge gained from our cellular and animal models to develop targeted therapeutic interventions. 

Overall aim

The overall aim of our research is to understand the molecular processes involved in disease pathology and to develop strategies to intervene in these processes. We can study FXTAS in several state-of-the-art in vitro and in vivo models. Together with our (international) collaborators we use these models in our quest for a targeted therapeutic intervention for FXTAS.

molecular processes

Research focus areas

Our group disposes of several state-of-the-art in vitro and in vivo models to study FXTAS, including primary neuron cultures, several mouse models (knock-in, transgenic,  inducible), zebrafish and C.elegans models.

zebrafisch model

Key Publications


Our team

ResearchGroup FMR1 premutation & FXTAS Students

From left to right: Robin Dirks (BSc student), Lies-Anne Severijnen (technician), Renee van Buuren (BSc student), Saif Haify (PhD student), Valerie Boumeester (BSc student), Renate Hukema (PI).

Any questions?

Please contact our office if you have any questions or comments.

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