- Expanded Huntingtin Heightens Calcium Signaling - ALZFORUM
In this week’s Neuron, researchers report that polyglutamine-expanded huntingtin (Htt)—the direct cause of Huntington's disease—exacerbates inositol triphosphate-mediated calcium signaling The paper's principal author, Ilya Bezprozvanny, University of Texas Southwestern Medical Center
- Adorn That Amino End: Huntingtin Decorated for Destruction
Huntingtin is well known to cause disease when it contains an excess of glutamine repeats, but even so, recent data indicate that regions outside its polyglutamine stretch are key for pathology For example, a polyproline region appears to slow axonal traffic (see ARF related news story ) The first 17 amino acids of the protein have also received plenty of scrutiny lately This region is
- Could Taking Down a DNA Repair Protein Stave Off Huntington’s?
At birth, people who carry a string of more than 40 CAG repeats within the first exon of the huntingtin gene are all but destined to develop Huntington’s disease Yet, recent studies are converging on the idea that the number of inherited repeats is not always sufficient to manifest the disease
- Huntingtin controls neurotrophic support and survival of neurons by . . .
News: Huntingtin, BDNF, Neurodegeneration: Is Speed of the Essence? The findings of decreased BDNF transport in Huntington's disease, as well as the reports by the Brady and Goldstein groups are significant, as they support the hypothesis that various neurodegenerative disorders display impaired axonal transport defects
- Huntingtin Repeats Cause—FTD, Caveolin Variants—ALS?
Huntingtin being involved in ALS and FTD comes as a surprise Expanded HTT typically causes neurodegeneration in the striatum, which is largely spared in ALS FTD, and previous work found no such link (Ramos et al , 2012) Interestingly, striatal atrophy had previously been seen in people with the behavioral variant of FTD (Prado et al , 2015)
- Antisense Oligonucleotide Squelches Huntingtin Protein in Phase 1 2a . . .
An antisense oligonucleotide knocked down levels of the mutant huntingtin protein in Huntington’s disease patients, who appeared to tolerate treatment well, according to a December 11 announcement by Ionis Pharmaceuticals, Inc , in Carlsbad, California While formal data have yet to be released
- Huntingtin, N-term (mEM48) | ALZFORUM
Specificity Huntingtin protein (native and recomb ) Reacts with mutant huntingtin that express different numbers of repeats (82 to 150 glutamines), and different forms of mutant huntingtin
- Cas9-mediated replacement of expanded CAG repeats in a pig . . . - ALZFORUM
While the pathogenesis underlying HD is relatively clear, there are no effective disease-modifying treatments In this study, the authors used an adeno-associated virus (AAV)-mediated CRISPR Cas9 system to replace the expanded CAG repeats and lower the expression of mHTT protein in a huntingtin knock-in pig model
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