Renate K Hukema, PhD - Clinical Genetics, Erasmus MC - Assistant Professor

Renate K Hukema

PhD

Clinical Genetics, Erasmus MC

Assistant Professor

Rotterdam | Netherlands

Main Specialties: Biochemical Genetics, Medical Genetics, Neuropathology

ORCID logohttps://orcid.org/0000-0002-1580-4154


Top Author

Renate K Hukema, PhD - Clinical Genetics, Erasmus MC - Assistant Professor

Renate K Hukema

PhD

Introduction

Renate Hukema received her PhD from the Erasmus University Rotterdam in 2006, where she 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, she returned to Erasmus MC to work as a postdoc at the department of Clinical Genetics. Her work was funded by E-Rare for which she received a transnational grant as project coordinator of a European consortium and by a prestigious fellowship from the Netherlands Brain Foundation. In 2014 she was selected for the exclusive Female Career Development training program at Erasmus MC for talented women in science.

Currently she is a group leader at the department of Clinical Genetics of Erasmus MC and her work 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. Research is focused at the gain-of-function mechanisms involved in disease progression and tries to target the roles of expanded repeat RNA and the polypeptides translated from these repeats through a mechanism called RAN (repeat associated non-AUG ) translation. Main focus of research is the FMR1 premutation and its related neurodegenerative disorder Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). Her work includes the generation and characterization of several (transgenic, inducible, and knock-in) mouse models and their derived cellular models. Goal of her research is to use gained insights about the molecular mechanisms to develop target therapeutic interventions. She has a broad international network of collaborators with whom she studies RAN translation and its contribution to disease pathogenesis.

Primary Affiliation: Clinical Genetics, Erasmus MC - Rotterdam , Netherlands

Specialties:

Research Interests:


View Renate K Hukema’s Resume / CV

Education

May 2002 - Nov 2006
Erasmus Universiteit Rotterdam
PhD
Cell Biology and Genetics
Sep 1997 - Apr 2002
Universiteit Utrecht
MSc
Biology

Experience

Jun 2008 - Oct 2015
Erasmus MC
Senior Postdoc
Clinical Genetics
Jun 2008 - Feb 2013
Erasmus MC
Postdoc
Clinical Genetics
Apr 2007
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Publications

29Publications

572Reads

5Profile Views

522PubMed Central Citations

Fragile X-associated tremor/ataxia syndrome: Regional decrease of mitochondrial DNA copy number relates to clinical manifestations.

Genes Brain Behav 2019 Jun 24;18(5):e12565. Epub 2019 May 24.

Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1111/gbb.12565DOI Listing
June 2019
2 Reads

BC RNA Mislocalization in the Fragile X Premutation.

eNeuro 2018 Mar-Apr;5(2). Epub 2018 Apr 19.

The Robert F. Furchgott Center for Neural and Behavioral Science, State University of New York Downstate Medical Center, Brooklyn, New York 11203.

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http://dx.doi.org/10.1523/ENEURO.0091-18.2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5952321PMC
January 2019
8 Reads

An Integrative Study of Protein-RNA Condensates Identifies Scaffolding RNAs and Reveals Players in Fragile X-Associated Tremor/Ataxia Syndrome.

Cell Rep 2018 Dec;25(12):3422-3434.e7

Centre for Genomic Regulation (CRG), The Barcelona Institute for Science and Technology, Dr. Aiguader 88, 08003 Barcelona, Spain; Universitat Pompeu Fabra (UPF), 08003 Barcelona, Spain; Department of Biology 'Charles Darwin', Sapienza University of Rome, P.le A. Moro 5, Rome 00185, Italy; Institució Catalana de Recerca i Estudis Avançats (ICREA), 23 Passeig Lluís Companys, 08010 Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.11.076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315285PMC
December 2018
3 Reads
7.207 Impact Factor

Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?

Eur J Med Genet 2018 Nov 6;61(11):674-679. Epub 2017 Dec 6.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.11.001DOI Listing
November 2018
9 Reads
1 Citation
1.490 Impact Factor

Paradoxical effect of baclofen on social behavior in the fragile X syndrome mouse model.

Brain Behav 2018 06 26;8(6):e00991. Epub 2018 Apr 26.

Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/brb3.991DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991574PMC
June 2018
18 Reads
1 Citation

Combination Therapy in Fragile X Syndrome; Possibilities and Pitfalls Illustrated by Targeting the mGluR5 and GABA Pathway Simultaneously.

Front Mol Neurosci 2017 7;10:368. Epub 2017 Nov 7.

Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands.

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http://dx.doi.org/10.3389/fnmol.2017.00368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681991PMC
November 2017
7 Reads
1 Citation

Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome.

Hum Mol Genet 2017 06;26(11):2133-2145

Department of Genetics and Molecular Neurobiology, Institute of Biology, Otto-von-Guericke University, 39120 Magdeburg, Germany.

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http://dx.doi.org/10.1093/hmg/ddx108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6075076PMC
June 2017
11 Reads
1 Citation
6.393 Impact Factor

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.

Neuron 2017 Jan 5;93(2):331-347. Epub 2017 Jan 5.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France; Université de Strasbourg, 67000 Strasbourg, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2016.12.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5263258PMC
January 2017
30 Reads
23 Citations
15.054 Impact Factor

The quest for targeted therapy in fragile X syndrome.

Expert Opin Ther Targets 2015 14;19(10):1277-81. Epub 2015 Aug 14.

a Erasmus MC, Department of Clinical Genetics , P.O. Box 2040, 3000 CA Rotterdam, The Netherlands +31 107 043 152 ;

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http://dx.doi.org/10.1517/14728222.2015.1079176DOI Listing
May 2016
8 Reads
3 Citations
5.140 Impact Factor

Cerebral protein synthesis in a knockin mouse model of the fragile X premutation.

ASN Neuro 2014 23;6(5). Epub 2014 Sep 23.

Section on Neuroadaptation and Protein Metabolism, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA

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http://dx.doi.org/10.1177/1759091414551957DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4187003PMC
June 2015
24 Reads
4.020 Impact Factor

Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI).

J Neurodev Disord 2014 13;6(1):26. Epub 2014 Aug 13.

Laboratory of Molecular and Cellular Biology, NIDDK, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1186/1866-1955-6-26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4139715PMC
August 2014
20 Reads
17 Citations
3.270 Impact Factor

The CGG repeat and the FMR1 gene.

Methods Mol Biol 2013 ;1010:155-76

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/978-1-62703-411-1_11DOI Listing
January 2014
9 Reads
3 Citations

FBXO7 immunoreactivity in α-synuclein-containing inclusions in Parkinson disease and multiple system atrophy.

J Neuropathol Exp Neurol 2013 Jun;72(6):482-8

Departments of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1097/NEN.0b013e318293c586DOI Listing
June 2013
27 Reads
6 Citations
3.800 Impact Factor

The 3' UTR of FMR1 mRNA is a target of miR-101, miR-129-5p and miR-221: implications for the molecular pathology of FXTAS at the synapse.

Hum Mol Genet 2013 May 5;22(10):1971-82. Epub 2013 Feb 5.

CNRS UMR 7275, Institute of Molecular and Cellular Pharmacology, Valbonne Sophia-Antipolis, France.

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http://dx.doi.org/10.1093/hmg/ddt044DOI Listing
May 2013
18 Reads
19 Citations
6.393 Impact Factor

Mouse models of the fragile x premutation and the fragile X associated tremor/ataxia syndrome.

Results Probl Cell Differ 2012 ;54:255-69

Department of Neurological Surgery, University of California, Davis, CA, USA.

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http://dx.doi.org/10.1007/978-3-642-21649-7_14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4313770PMC
February 2012
10 Reads
11 Citations

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients.

EMBO J 2010 Apr 25;29(7):1248-61. Epub 2010 Feb 25.

Department of Neurobiology and Genetics, IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France.

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http://dx.doi.org/10.1038/emboj.2010.21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2857464PMC
April 2010
21 Reads
145 Citations
10.434 Impact Factor

Signaling proteins that regulate NaCl [corrected] chemotaxis responses modulate longevity in C. elegans.

Ann N Y Acad Sci 2009 Jul;1170:682-7

MGC Department of Cell Biology and Genetics, and Center for Biomedical Genetics, Erasmus MC, CA Rotterdam, The Netherlands.

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http://dx.doi.org/10.1111/j.1749-6632.2009.04362.xDOI Listing
July 2009
30 Reads
2 Citations
4.313 Impact Factor

CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome.

J Neurochem 2008 Dec 10;107(6):1671-82. Epub 2008 Nov 10.

Department of Clinical Genetics, Erasmus MC Rotterdam, GE Rotterdam, The Netherlands.

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http://dx.doi.org/10.1111/j.1471-4159.2008.05747.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2605773PMC
December 2008
10 Reads
59 Citations
4.281 Impact Factor

Gustatory plasticity in C. elegans involves integration of negative cues and NaCl taste mediated by serotonin, dopamine, and glutamate.

Learn Mem 2008 Nov 30;15(11):829-36. Epub 2008 Oct 30.

Department of Cell Biology and Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1101/lm.994408DOI Listing
November 2008
9 Reads
19 Citations
3.660 Impact Factor

Antagonistic sensory cues generate gustatory plasticity in Caenorhabditis elegans.

EMBO J 2006 Jan 12;25(2):312-22. Epub 2006 Jan 12.

MGC Department of Cell Biology and Genetics, Centre for Biomedical Genetics, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/sj.emboj.7600940DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1383522PMC
January 2006
9 Reads
26 Citations
10.434 Impact Factor

Top co-authors

Rob Willemsen
Rob Willemsen

Department of Clinical Genetics

21
Robert F Berman
Robert F Berman

University of California Davis

8
Paul J Hagerman
Paul J Hagerman

University of California

5
Chantal Sellier
4
Lies-Anne Severijnen
Lies-Anne Severijnen

Department of Clinical Genetics

4
Shimriet Zeidler
Shimriet Zeidler

a Erasmus MC

3