All Stories

  1. Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation

    Article • Human Molecular Genetics, June 2021, Oxford University Press (OUP)

    Dr Renate K Hukema

  2. Editorial: Proceedings of the “Fourth International Conference of the FMR1 Premutation: Basic Mechanisms, Clinical Involvement and Therapy”

    Article • Frontiers in Molecular Biosciences, April 2021, Frontiers

    Dr Renate K Hukema

  3. Short antisense oligonucleotides alleviate the pleiotropic toxicity of RNA harboring expanded CGG repeats

    Article • Nature Communications, February 2021, Springer Science + Business Media

    Dr Renate K Hukema

  4. Inducible expression of human C9ORF72 36× G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice

    Article • Disease Models & Mechanisms, February 2021, The Company of Biologists

    Dr Renate K Hukema

  5. Neuropathology of FMR1-premutation carriers presenting with dementia and neuropsychiatric symptoms

    Article • Brain Communications, January 2021, Oxford University Press (OUP)

    Dr Renate K Hukema

  6. Lack of a Clear Behavioral Phenotype in an Inducible FXTAS Mouse Model Despite the Presence of Neuronal FMRpolyG-Positive Aggregates

    Article • Frontiers in Molecular Biosciences, December 2020, Frontiers

    Dr Renate K Hukema

  7. In silico, in vitro, and in vivo Approaches to Identify Molecular Players in Fragile X Tremor and Ataxia Syndrome

    Article • Frontiers in Molecular Biosciences, March 2020, Frontiers

    Dr Renate K Hukema

  8. Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS

    Article • Molecular Therapy — Nucleic Acids, December 2019, Elsevier

    Dr Renate K Hukema

  9. Refining the Spectrum of Neuronal Intranuclear Inclusion Disease: A Case Report

    Article • Journal of Neuropathology & Experimental Neurology, May 2019, Oxford University Press (OUP)

    Dr Renate K Hukema

  10. FXTAS: regional decrease of mitochondrial DNA copy number relates to clinical manifestations

    Article • Genes Brain & Behavior, March 2019, Wiley

    Dr Renate K Hukema

  11. Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology

    Article • Acta Neuropathologica Communications, February 2019, Springer Science + Business Media

    Dr Renate K Hukema

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

    Article • Cell Reports, December 2018, Elsevier

    Dr Renate K Hukema

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

    Article • Brain and Behavior, April 2018, Wiley

    Dr Renate K Hukema

  14. BC RNA mislocalization in the fragile X premutation

    Article • eNeuro, April 2018, Society for Neuroscience

    Dr Renate K Hukema

  15. An Integrative Study of Ribonucleoprotein Condensates Reveals a Biomarker for Fragile X-Associated Tremor/Ataxia Syndrome

    Article • SSRN Electronic Journal, January 2018, Elsevier

    Dr Renate K Hukema

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

    Article • European Journal of Medical Genetics, December 2017, Elsevier

    Dr Renate K Hukema

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

    Article • Frontiers in Molecular Neuroscience, November 2017, Frontiers

    Dr Renate K Hukema

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

    Article • Human Molecular Genetics, March 2017, Oxford University Press (OUP)

    Dr Renate K Hukema

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

    Article • Neuron, January 2017, Elsevier

    Dr Renate K Hukema

  20. Model Systems for Understanding FXPOI

    Article • January 2016, Springer Science + Business Media

    Dr Renate K Hukema

  21. Mouse Models for FXTAS and the Fragile X Premutation

    Article • January 2016, Springer Science + Business Media

    Dr Renate K Hukema

  22. Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency

    Article • Human Reproduction, November 2015, Oxford University Press (OUP)

    Dr Renate K Hukema

  23. Corrigendum

    Article • Expert Opinion on Therapeutic Targets, November 2015, Informa Healthcare

    Dr Renate K Hukema

  24. The quest for targeted therapy in fragile X syndrome

    Article • Expert Opinion on Therapeutic Targets, August 2015, Informa Healthcare

    Dr Renate K Hukema

  25. Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS

    Article • Human Molecular Genetics, June 2015, Oxford University Press (OUP)

    Dr Renate K Hukema

  26. Corrigendum

    Article • Brain, January 2015, Oxford University Press (OUP)

    Dr Renate K Hukema

  27. A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD

    Article • Acta Neuropathologica Communications, December 2014, Springer Science + Business Media

    Dr Renate K Hukema

  28. FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

    Article • Acta Neuropathologica Communications, November 2014, Springer Science + Business Media

    Dr Renate K Hukema

  29. Cerebral Protein Synthesis in a Knockin Mouse Model of the Fragile X Premutation

    Article • ASN NEURO, September 2014, SAGE Publications

    Dr Renate K Hukema

  30. Induced expression of expanded CGG RNA causes mitochondrial dysfunctionin vivo

    Article • Cell Cycle, August 2014, Taylor & Francis

    Dr Renate K Hukema

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

    Article • Journal of Neurodevelopmental Disorders, July 2014, Springer Science + Business Media

    Dr Renate K Hukema

  32. PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology

    Article • Brain, April 2014, Oxford University Press (OUP)

    Dr Renate K Hukema

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

    Article • Journal of Neurodevelopmental Disorders, January 2014, Springer Science + Business Media

    Dr Renate K Hukema, Maria-Isabel Tejada

  34. FBXO7 Immunoreactivity in α-Synuclein—Containing Inclusions in Parkinson Disease and Multiple System Atrophy

    Article • Journal of Neuropathology & Experimental Neurology, June 2013, Oxford University Press (OUP)

    Dr Renate K Hukema

  35. 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

    Article • Human Molecular Genetics, February 2013, Oxford University Press (OUP)

    Dr Renate K Hukema

  36. The CGG Repeat and the FMR1 Gene

    Article • January 2013, Springer Science + Business Media

    Dr Renate K Hukema

  37. The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

    Article • Brain, February 2012, Oxford University Press (OUP)

    Dr Renate K Hukema

  38. Mouse Models of the Fragile X Premutation and the Fragile X Associated Tremor/Ataxia Syndrome

    Article • September 2011, Springer Science + Business Media

    Dr Renate K Hukema

  39. Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice

    Article • Acta Neuropathologica, July 2011, Springer Science + Business Media

    Dr Renate K Hukema

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

    Article • The EMBO Journal, February 2010, Wiley

    Dr Renate K Hukema

  41. Erratum for Ann. N. Y. Acad. Sci. 1170: 682-687

    Article • Annals of the New York Academy of Sciences, September 2009, Wiley

    Dr Renate K Hukema

  42. Signaling Proteins that Regulate NaCL Chemotaxis Responses Modulate Longevity in C. elegans

    Article • Annals of the New York Academy of Sciences, July 2009, Wiley

    Dr Renate K Hukema

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

    Article • Journal of Neurochemistry, December 2008, Wiley

    Dr Renate K Hukema

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

    Article • Learning & Memory, October 2008, Cold Spring Harbor Laboratory Press

    Dr Renate K Hukema

  45. Antagonistic sensory cues generate gustatory plasticity in Caenorhabditis elegans

    Article • The EMBO Journal, January 2006, Wiley

    Dr Renate K Hukema