Disease Mechanisms of Pontocerebellar Hypoplasia Type 10

10 型脑桥小脑发育不全的疾病机制

基本信息

  • 批准号:
    10428653
  • 负责人:
  • 金额:
    $ 51.86万
  • 依托单位:
  • 依托单位国家:
    美国
  • 项目类别:
  • 财政年份:
    2021
  • 资助国家:
    美国
  • 起止时间:
    2021-07-01 至 2026-06-30
  • 项目状态:
    未结题

项目摘要

PROJECT SUMMARY/ABSTRACT Degeneration of brain or spinal cord neurons is associated with many untreatable neurological disorders and leads to a gradual decline in cognitive and motor function, and eventual death. While more prevalent in aged individuals, neurodegenerative disease onset is variable and can begin in childhood. There are no effective therapies for the majority of patients, likely due to our limited understanding of disease etiology. Inherited neurodegenerative disorders are commonly caused by genetic mutations in RNA binding proteins that regulate RNA biogenesis. In order to develop therapeutics for this class of disorders, it will be critical to understand how RNA binding proteins function in normal and diseased states, and whether molecular changes are amenable to correction. Our preliminary data suggests mRNA processing may be significantly affected in cases of inherited childhood motor neuron degeneration. To test our hypothesis that mRNA processing defects cause pediatric motor neuron disease, we have created human stem cell- and animal-based models to correlate molecular changes with disease pathology. We will apply high-throughput sequencing, electrophysiology, histology and behavioral approaches to our novel disease models to pinpoint pathogenic transcriptional mRNA isoforms expressed as a consequence of the RNA binding protein mutation as well as test a candidate targeted gene- based therapy.
项目总结/文摘

项目成果

期刊论文数量(0)
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Ashleigh E Schaffer其他文献

Exploring the connection between RNA splicing and intellectual disability
探索 RNA 剪接与智力残疾之间的联系

Ashleigh E Schaffer的其他文献

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{{ truncateString('Ashleigh E Schaffer', 18)}}的其他基金

Reduced allelic dosage of CLP1 attenuates cognitive dysfunction and pathological burden in transgenic mouse models of Alzheimer’s disease
减少 CLP1 等位基因剂量可减轻阿尔茨海默病转基因小鼠模型的认知功能障碍和病理负担
  • 批准号:
    10572250
  • 财政年份:
    2022
  • 资助金额:
    $ 51.86万
  • 项目类别:
Disease Mechanisms of Pontocerebellar Hypoplasia Type 10
10 型脑桥小脑发育不全的疾病机制
  • 批准号:
    10279371
  • 财政年份:
    2021
  • 资助金额:
    $ 51.86万
  • 项目类别:
Developing single nuclear polyAClick-sequencing to profile mRNA 3'-end diversity at the single cell level in Alzheimer's disease.
开发单核 PolyAClick 测序以分析阿尔茨海默病单细胞水平的 mRNA 3 末端多样性。
  • 批准号:
    10711314
  • 财政年份:
    2021
  • 资助金额:
    $ 51.86万
  • 项目类别:
Disease Mechanisms of Pontocerebellar Hypoplasia Type 10
10 型脑桥小脑发育不全的疾病机制
  • 批准号:
    10661651
  • 财政年份:
    2021
  • 资助金额:
    $ 51.86万
  • 项目类别:
Molecular Mechanisms of Intellectual Disability
智力障碍的分子机制
  • 批准号:
    9403283
  • 财政年份:
    2017
  • 资助金额:
    $ 51.86万
  • 项目类别:
Molecular Mechanisms of Intellectual Disability
智力障碍的分子机制
  • 批准号:
    8967077
  • 财政年份:
    2015
  • 资助金额:
    $ 51.86万
  • 项目类别:
Molecular Mechanisms of Intellectual Disability
智力障碍的分子机制
  • 批准号:
    9104166
  • 财政年份:
    2015
  • 资助金额:
    $ 51.86万
  • 项目类别:

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非洲人群中 HIV 氨基酸变异与 CHD1L 和 HLA I 类基因座的保护性宿主等位基因的关联
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