Defining the MAST4 interactome in brain development and epilepsy

定义大脑发育和癫痫中的 MAST4 相互作用组

基本信息

  • 批准号:
    10664122
  • 负责人:
  • 金额:
    $ 21.22万
  • 依托单位:
  • 依托单位国家:
    美国
  • 项目类别:
  • 财政年份:
    2023
  • 资助国家:
    美国
  • 起止时间:
    2023-06-01 至 2024-05-31
  • 项目状态:
    已结题

项目摘要

PROJECT SUMMARY Epilepsy is a common and costly cause of morbidity and mortality in children and adults. Developmental and epileptic encephalopathies (DEEs) are severe childhood epilepsies that require rapid diagnosis to initiate treatment that will control seizures and prevent or reverse the loss of neurologic function. However, these seizures often do not respond to medications. Most DEE patients are expected to have a known underlying genetic etiology, but they often lack a molecular diagnosis because the potential pathogenic variants are in genes that have not yet been associated with neurological dysfunction. We have identified de novo variants in the MAST4 gene in patients with developmental delay, DEE, vision abnormalities, and in some, structural brain abnormalities. MAST4 is a member of an understudied family of serine threonine kinases (MAST1-4 and MAST-like) that is among the IDG-eligible proteins with high potential to impact human health as a therapeutic target for epilepsy. In Aim 1, we will characterize MAST4 spatiotemporal expression in neurodevelopment and identify MAST4 interacting proteins in vivo using label-free mass spectrometry. In Aim 2, we will validate MAST4 interacting proteins and the impact of patient-specific mutations on these interactions in primary cultured neurons in vitro. The results from these experiments will provide both important functional data and tools to instruct the path to precision medicine for DEE patients with MAST4 mutations.
项目总结

项目成果

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Kimberly Anne Aldinger其他文献

Kimberly Anne Aldinger的其他文献

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{{ truncateString('Kimberly Anne Aldinger', 18)}}的其他基金

Investigating the cellular and molecular neuropathology of the cerebellum in autism
研究自闭症小脑的细胞和分子神经病理学
  • 批准号:
    10417052
  • 财政年份:
    2021
  • 资助金额:
    $ 21.22万
  • 项目类别:
Investigating the cellular and molecular neuropathology of the cerebellum in autism
研究自闭症小脑的细胞和分子神经病理学
  • 批准号:
    10195945
  • 财政年份:
    2021
  • 资助金额:
    $ 21.22万
  • 项目类别:
Determining the neurodevelopmental cell type specific regulatory networks impacted in Down syndrome
确定唐氏综合症影响的神经发育细胞类型特异性调节网络
  • 批准号:
    10595260
  • 财政年份:
    2021
  • 资助金额:
    $ 21.22万
  • 项目类别:
Determining the neurodevelopmental cell type specific regulatory networks impacted in Down syndrome
确定唐氏综合症影响的神经发育细胞类型特异性调节网络
  • 批准号:
    10304101
  • 财政年份:
    2021
  • 资助金额:
    $ 21.22万
  • 项目类别:
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