About R. K. (Renate) Hukema, PhD
Introduction
Current research at the department of Clinical Genetics of the Erasmus MC is focused on expanded repeats in neurological disorders. An important goal is to understand the underlying molecular mechanisms involved in order to develop therapeutic interventions. Main focus of research is the FMR1 premutation and its related neurodegenerative disorder Fragile X-associated Tremor/Ataxia Syndrome (FXTAS ). My work includes the generation and characterization of several animal models and their derived cellular models. Goal of my research is to use the gained insights about the molecular mechanisms to develop target therapeutic interventions. I have a broad international network of collaborators with whom I study RAN (repeat associated non-AUG )translation and its contribution to disease pathogenesis.
Education and career
I received my PhD from the Erasmus University Rotterdam in 2006, where I studied gustatory plasticity in the nematode C. elegans at the departments of Cell Biology and Genetics. After a short postdoc at the department of pathology of UMC Utrecht, I returned to Erasmus MC to work as a postdoc at the department of Clinical Genetics. My work at this department was funded by E-Rare for which I received a transnational grant as project coordinator of a European consortium and by a prestigious fellowship from the Netherlands Brain Foundation. In 2014 I was selected for the exclusive Female Career Development training program at Erasmus MC for talented women with the potential to become associate professor.
Publications
Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.
Hukema RK, Buijsen RAM, Schonewille M, Raske C, Severijnen LAWFM, Nieuwenhuizen-Bakker I, Verhagen RF, van Dessel L, Maas A, Charlet-Berguerand N, De Zeeuw CI, Hagerman PJ, Berman RF, Willemsen R. (2015). Hum Mol Genet. 2015 Sep 1;24(17):4948-57.
Induced expression of expanded CGG RNA causes mitochondrial dysfunction in vivo.
Hukema RK, Buijsen RAM, Raske C, Severijnen LA, Nieuwenhuizen-Bakker I, Minneboo M, Maas A, de Crom R, Kros JM, Hagerman PJ, Berman RF, Willemsen R. (2014). Cell Cycle. 2014 Aug 15; 13(16): 2600–2608.
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.
Hunsaker MR, Greco CM, Spath MA, Smits AP, Navarro CS, Tassone F, Kros JM, Severijnen LA, Berry-Kravis EM, Berman RF, Hagerman PJ, Willemsen R, Hagerman RJ, Hukema RK. (2011). Acta Neuropathol. 2011 Oct;122(4):467-79.
