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Homozygous Defect in HIV-1 Coreceptor Accounts for Resistance of Some Multiply-Exposed Individuals to HIV-1 Infection
Loss of Huntingtin-Mediated BDNF Gene Transcription in Huntington's Disease
It is demonstrated that wild-type huntingtin up-regulates transcription of brain-derived neurotrophic factor (BDNF), a pro-survival factor produced by cortical neurons that is necessary for survival of striatal neurons in the brain.
Huntingtin Controls Neurotrophic Support and Survival of Neurons by Enhancing BDNF Vesicular Transport along Microtubules
Dominant phenotypes produced by the HD mutation in STHdh(Q111) striatal cells.
These phenotypes indicate a disruption of striatal cell homeostasis by the mutant protein, via a mechanism that is separate from its normal activity, and support specific stress pathways, including elevated p53, endoplasmic reticulum stress response and hypoxia, as potential players in HD.
Integrated Systems Approach Identifies Genetic Nodes and Networks in Late-Onset Alzheimer’s Disease
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
CAG repeat number governs the development rate of pathology in Huntington's disease
The results imply that striatal damage in Huntington's disease is almost entirely a lineaar function of the length of the polyglutamine stretch beyond 35.5 repeats, and it is predicted that the pathological process develops linearly from birth.
Disruption of neurexin 1 associated with autism spectrum disorder.
Systematic behavioral evaluation of Huntington's disease transgenic and knock-in mouse models
A compendium of gene expression in normal human tissues.
A compendium of gene expression in normal human tissues suitable as a reference for defining basic organ systems biology is created and subsets of tissue-selective genes are identified that define key biological processes characterizing each organ.