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Homozygous Defect in HIV-1 Coreceptor Accounts for Resistance of Some Multiply-Exposed Individuals to HIV-1 Infection
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Loss of Huntingtin-Mediated BDNF Gene Transcription in Huntington's Disease
TLDR
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.
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Huntingtin Controls Neurotrophic Support and Survival of Neurons by Enhancing BDNF Vesicular Transport along Microtubules
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Dominant phenotypes produced by the HD mutation in STHdh(Q111) striatal cells.
TLDR
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.
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Integrated Systems Approach Identifies Genetic Nodes and Networks in Late-Onset Alzheimer’s Disease
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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
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CAG repeat number governs the development rate of pathology in Huntington's disease
TLDR
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.
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Disruption of neurexin 1 associated with autism spectrum disorder.
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Systematic behavioral evaluation of Huntington's disease transgenic and knock-in mouse models
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A compendium of gene expression in normal human tissues.
TLDR
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.
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