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- W4295261535 abstract "<h3></h3> In Huntington Disease (HD) aberrant splicing of exon 1 of the huntingtin gene results in the production of HTT1a, a mRNA encoding the pathogenic exon 1 HTT protein fragment. Although it is known that the production of HTT1a is proportional to CAG repeat length, the underlying mechanisms are still unclear. The aim of this project is to optimize the detection and quantification of HTT1a using human lymphoblastoid cell lines with varying CAG lengths. Hereby, the questions whether the production is CAG length-dependent and whether this effect can be seen in a homogenous cell population will be answered. To address these research questions, an assay was established using digital PCR and FACS analysis, that allows sensitive and absolute quantification of HTT1a. We showed that it is possible to detect the small transcript and proportionality to CAG length using the established digital PCR assay was proven. To further standardize the assay, we will work with a defined cell population within the heterogeneous lymphoblastoid lines, the dendritic cells, to demonstrate the unification of the assay to specific cell populations. The result of this technical work could significantly improve the diagnostic process of Huntington Disease and facilitate the standard clinical practice, since the detection of HTT1a in defined cell populations could serve as a biomarker for Huntington Disease. It would allow new interventional therapies to be monitored for their potential to lower HTT1a which could contribute to the overall outcome." @default.
- W4295261535 created "2022-09-12" @default.
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- W4295261535 date "2022-09-01" @default.
- W4295261535 modified "2023-09-30" @default.
- W4295261535 title "D05 Expression of <i>HTT1A</i> in models of Huntington disease" @default.
- W4295261535 doi "https://doi.org/10.1136/jnnp-2022-ehdn.61" @default.
- W4295261535 hasPublicationYear "2022" @default.
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