Experimental basis for the putative role of GluR6/kainate glutamate receptor subunit in Huntington's disease natural history
@article{Diguet2004ExperimentalBF, title={Experimental basis for the putative role of GluR6/kainate glutamate receptor subunit in Huntington's disease natural history}, author={Elsa Diguet and Pierre-Olivier Fernagut and Elisabeth Normand and Laurie Centelles and Christophe Mulle and Francois Tison}, journal={Neurobiology of Disease}, year={2004}, volume={15}, pages={667-675} }
17 Citations
Genetic analysis of the GRIK2 modifier effect in Huntington's disease
- BiologyBMC Neuroscience
- 2006
Haplotype analysis using microsatellites, known SNPs and new variants discovered in the 3'UTR argues against a common ancestral origin for the 16 TAA repeat alleles in individuals who showed much earlier age at neurological onset than would be expected from the length of their HD CAG mutation.
Huntington’s Disease: Relationship Between Phenotype and Genotype
- Biology, MedicineMolecular Neurobiology
- 2015
The recent advancement on the genotype-phenotype relationship of HD is reviewed, mainly focus on the characteristics of different expanded CAG repeat number, genetic modifiers, and CCG repeat number in the 3′ end of CAG triplet repeat and their effects on the phenotype.
Oxidative damage in Huntington's disease pathogenesis.
- BiologyAntioxidants & redox signaling
- 2006
Current evidence supporting a role for oxidative damage in the etiology of neuronal damage and degeneration in Huntington's disease is reviewed.
Polymorphism of the glutamate receptor genes and risk of paranoid schizophrenia in Russians and Tatars from the Republic of Bashkortostan
- Psychology, MedicineMolecular Biology
- 2014
The hypothesis that glutamate receptor genes are involved in the etiology and pathogenesis of schizophrenia and response to haloperidol treatment is supported.
Emerging drug therapies in Huntington's disease
- Medicine, BiologyExpert opinion on emerging drugs
- 2009
This review discusses the treatments now used for Huntington's disease before evaluating the newer drugs at present being explored in both the clinic and in the laboratory in mouse models of the disease.
Emergingdrugtherapiesin Huntington'sdisease
- Medicine, Biology
- 2009
This review discusses the treatments now used for Huntington's disease before evaluating the newer drugs at present being explored in both the clinic and in the laboratory in mouse models of the disease.
Genetic variants of glutamate receptor gene family in Taiwanese Kawasaki disease children with coronary artery aneurysms
- Medicine, BiologyCell & Bioscience
- 2014
It is demonstrated that GRIK1 polymorphisms are associated CAA formation in KD, even when adjusted for fever duration and IVIG used time, and may also serve as a genetic marker for the CAA Formation in KD.
Genetic modifiers of Huntington's disease
- Biology, MedicineMovement disorders : official journal of the Movement Disorder Society
- 2014
Advances in genetic technology are expected to highlight processes capable of altering the course of HD and therefore to provide new, human‐validated targets for traditional drug development, with the goal of developing rational treatments to delay or prevent onset of HD clinical signs.
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Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease.
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R6/2 mice show measurable deficits in motor behavior that begin subtly and increase progressively until death and indicate that they may be useful for evaluating therapeutic strategies for HD, particularly those aimed at reducing the severity of motor symptoms or slowing the course of the disease.
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Losses of KA receptor binding were mainly localized to those regions of the HD brain that are most severely affected by neuronal degeneration, and the high-affinity receptor site appeared more affected.