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Resolving pathobiological mechanisms relating to Huntington disease: gait, balance, and involuntary movements in mice with targeted ablation of striatal D1 dopamine receptor cells.
Kim HA, Jiang L, Madsen H, Parish CL, Massalas J, Smardencas A, O'Leary C, Gantois I, O'Tuathaigh C, Waddington JL, Ehrlich ME, Lawrence AJ, Drago J. Kim HA, et al. Neurobiol Dis. 2014 Feb;62:323-37. doi: 10.1016/j.nbd.2013.09.015. Epub 2013 Oct 14. Neurobiol Dis. 2014. PMID: 24135007
Progressive cell loss is observed in the striatum, cerebral cortex, thalamus, hypothalamus, subthalamic nucleus and hippocampus in Huntington disease. In the striatum, dopamine-responsive medium spiny neurons are preferentially lost. ...We utilized the Cre-LoxP syst …
Progressive cell loss is observed in the striatum, cerebral cortex, thalamus, hypothalamus, subthalamic nucleus and hippocampus in Huntin …
A GABBR2 gene variant modifies pathophysiology in Huntington's disease.
Philpott AL, Fitzgerald PB, Bailey NW, Churchyard A, Georgiou-Karistianis N, Cummins TD. Philpott AL, et al. Neurosci Lett. 2016 May 4;620:8-13. doi: 10.1016/j.neulet.2016.03.038. Epub 2016 Mar 23. Neurosci Lett. 2016. PMID: 27033668
Striatal degeneration in Huntington's disease (HD) causes changes in cortico-subcortical pathways. ...Our hierarchical multiple regression analysis, controlling for CAG and age, revealed that a GABBR2 variant, predicted to be disease-causative, was significan …
Striatal degeneration in Huntington's disease (HD) causes changes in cortico-subcortical pathways. ...Our hierarchical multipl …
Transcriptional correlates of the pathological phenotype in a Huntington's disease mouse model.
Gallardo-Orihuela A, Hervás-Corpión I, Hierro-Bujalance C, Sanchez-Sotano D, Jiménez-Gómez G, Mora-López F, Campos-Caro A, Garcia-Alloza M, Valor LM. Gallardo-Orihuela A, et al. Sci Rep. 2019 Dec 10;9(1):18696. doi: 10.1038/s41598-019-55177-9. Sci Rep. 2019. PMID: 31822756 Free PMC article.
Huntington disease (HD) is a fatal neurodegenerative disorder without a cure that is caused by an aberrant expansion of CAG repeats in exon 1 of the huntingtin (HTT) gene. Although a negative correlation between the number of CAG repeats and the age of disease …
Huntington disease (HD) is a fatal neurodegenerative disorder without a cure that is caused by an aberrant expansion of CAG re …
Dysregulation of gene expression in primary neuron models of Huntington's disease shows that polyglutamine-related effects on the striatal transcriptome may not be dependent on brain circuitry.
Runne H, Régulier E, Kuhn A, Zala D, Gokce O, Perrin V, Sick B, Aebischer P, Déglon N, Luthi-Carter R. Runne H, et al. J Neurosci. 2008 Sep 24;28(39):9723-31. doi: 10.1523/JNEUROSCI.3044-08.2008. J Neurosci. 2008. PMID: 18815258 Free PMC article.
Gene expression changes are a hallmark of the neuropathology of Huntington's disease (HD), but the exact molecular mechanisms of this effect remain uncertain. Here, we report that in vitro models of disease comprised of primary striatal neurons expressing N-t …
Gene expression changes are a hallmark of the neuropathology of Huntington's disease (HD), but the exact molecular mechanisms …
Shape deformation analysis reveals the temporal dynamics of cell-type-specific homeostatic and pathogenic responses to mutant huntingtin.
Megret L, Gris B, Sasidharan Nair S, Cevost J, Wertz M, Aaronson J, Rosinski J, Vogt TF, Wilkinson H, Heiman M, Neri C. Megret L, et al. Elife. 2021 Feb 23;10:e64984. doi: 10.7554/eLife.64984. Elife. 2021. PMID: 33618800 Free PMC article.
Here, using a novel computational approach to integrate dimensional RNA-seq and in vivo neuron survival data, we map the temporal dynamics of homeostatic and pathogenic responses in four striatal cell types of Huntington's disease (HD) model mice. This map shows tha …
Here, using a novel computational approach to integrate dimensional RNA-seq and in vivo neuron survival data, we map the temporal dynamics o …
Mammalian Target of Rapamycin-RhoA Signaling Impairments in Direct Striatal Projection Neurons Induce Altered Behaviors and Striatal Physiology in Mice.
Rial D, Puighermanal E, Chazalon M, Valjent E, Schiffmann SN, de Kerchove d'Exaerde A. Rial D, et al. Biol Psychiatry. 2020 Dec 15;88(12):945-954. doi: 10.1016/j.biopsych.2020.05.029. Epub 2020 Jun 3. Biol Psychiatry. 2020. PMID: 32711953
BACKGROUND: As an integrator of molecular pathways, mTOR (mammalian target of rapamycin) has been associated with diseases including neurodevelopmental, psychiatric, and neurodegenerative disorders such as autism spectrum disorder, schizophrenia, and Huntington's diseas …
BACKGROUND: As an integrator of molecular pathways, mTOR (mammalian target of rapamycin) has been associated with diseases including neurode …