• Mashup Score: 5
    Genetics in Medicine - 2 year(s) ago

    How to best counsel patients with genetic prion diseaseAn epidemic of mad cow disease in the 80s and 90s made prion disease something of a household name. The fatal neurodegenerative disorder advances rapidly. Within 6 months, most patients develop a progressive dementia, as abnormally shaped prion proteins accumulate in their brains and render the tissue with a characteristic sponge-like…

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    • #EditorsChoice: Prion diseases can be inherited and genetic counseling for family members of patients may be helpful #CreutzfeldtJakob #PrionDisease #PRNP #genetics https://t.co/8NU2oeUQ2q https://t.co/uQtgqrvfP7

  • Mashup Score: 27

    The unfolded protein response (UPR) is critical for proteostasis in all tissues. However, chronic UPR activity in protein aggregation–associated neurodegenerative diseases detrimentally suppresses protein synthesis that is necessary for neuronal function and survival, as well as for cognition. Hughes et al. found that the phosphorylation of a threonine residue in the stress response kinase PERK…

    Tweet Tweets with this article
    • A new biochemical study in @SciSignal reveals a safer potential treatment strategy for #PrionDisease and neurodegenerative disorders that involve the improper folding and clumping of proteins in the brain. #neuroscience https://t.co/fGZTViWceS Credit: Hughes et al. https://t.co/wVUBOu0L7x

  • Mashup Score: 9

    The unfolded protein response (UPR) is critical for proteostasis in all tissues. However, chronic UPR activity in protein aggregation–associated neurodegenerative diseases detrimentally suppresses protein synthesis that is necessary for neuronal function and survival, as well as for cognition. Hughes et al. found that the phosphorylation of a threonine residue in the stress response kinase PERK…

    Tweet Tweets with this article
    • A new biochemical study in @SciSignal reveals a safer potential treatment strategy for #PrionDisease and neurodegenerative disorders that involve the improper folding and clumping of proteins in the brain. #neuroscience https://t.co/fGZTViWceS Credit: Hughes et al. https://t.co/lcU5FGbNQ1