Epigenetic dysregulation of muscle differentiation in Kabuki syndrome

歌舞伎综合征肌肉分化的表观遗传失调

基本信息

  • 批准号:
    10560603
  • 负责人:
  • 金额:
    $ 53万
  • 依托单位:
  • 依托单位国家:
    美国
  • 项目类别:
  • 财政年份:
    2022
  • 资助国家:
    美国
  • 起止时间:
    2022-02-02 至 2026-12-31
  • 项目状态:
    未结题

项目摘要

PROJECT SUMMARY Kabuki Syndrome (KS) is a rare disease caused by heterozygous pathogenic mutations in two known genes: KDM6A (~20% cases) and KMT2D (~80% cases). Both genes are broadly expressed in many tissues and their activity spans temporally from development to postnatal adult life. KS patients present with various degrees of clinical abnormalities, including severe muscular hypotonia and reduced muscle strength. Whether hypotonia develops as a consequence of nerve conduction malfunction or it is due to a cell-autonomous primary defect in skeletal muscle is currently unknown. Further, skeletal muscle tissue from patients affected by KS has not been thoroughly studied. Our main hypothesis is that skeletal muscle tissue is primarily affected by mutations in KMT2D, which results in dysregulated muscle function. We propose to validate our hypothesis via the following specific Aims: 1) Define primary versus secondary muscle function defects using constitutive and conditional mouse models of KS; 2) Determine the gene networks and molecular targets of KMT2D driving muscle hypotonia in constitutive and conditional KS mouse models; 3) Define muscle satellite cell heterogeneity and `immaturity' in conditional and constitutive KS models, as well as in human patients. The work proposed will fill major gaps in our lack of knowledge about etiology of hypotonia in Kabuki syndrome and will pave the way for clinical improvements of patient care.
项目总结

项目成果

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EMANUELA GUSSONI其他文献

EMANUELA GUSSONI的其他文献

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{{ truncateString('EMANUELA GUSSONI', 18)}}的其他基金

Epigenetic dysregulation of muscle differentiation in Kabuki syndrome
歌舞伎综合征肌肉分化的表观遗传失调
  • 批准号:
    10342143
  • 财政年份:
    2022
  • 资助金额:
    $ 53万
  • 项目类别:
Tetraspanin CD82 in muscle satellite cells quiescence and differentiation
肌肉卫星细胞静止和分化中的四跨膜蛋白 CD82
  • 批准号:
    9937662
  • 财政年份:
    2017
  • 资助金额:
    $ 53万
  • 项目类别:
Tetraspanin CD82 in muscle satellite cells quiescence and differentiation
肌肉卫星细胞静止和分化中的四跨膜蛋白 CD82
  • 批准号:
    9504592
  • 财政年份:
    2017
  • 资助金额:
    $ 53万
  • 项目类别:
Tetraspanin CD82 in muscle satellite cells quiescence and differentiation
肌肉卫星细胞静止和分化中的四跨膜蛋白 CD82
  • 批准号:
    10362518
  • 财政年份:
    2017
  • 资助金额:
    $ 53万
  • 项目类别:
C6ORF32, AN HDAC6-BINDING PROTEIN THAT REGULATES MYOBLAST DIFFERENTIATION
C6ORF32,一种调节成肌细胞分化的 HDAC6 结合蛋白
  • 批准号:
    8302345
  • 财政年份:
    2011
  • 资助金额:
    $ 53万
  • 项目类别:
C6ORF32, AN HDAC6-BINDING PROTEIN THAT REGULATES MYOBLAST DIFFERENTIATION
C6ORF32,一种调节成肌细胞分化的 HDAC6 结合蛋白
  • 批准号:
    8691730
  • 财政年份:
    2011
  • 资助金额:
    $ 53万
  • 项目类别:
C6ORF32, AN HDAC6-BINDING PROTEIN THAT REGULATES MYOBLAST DIFFERENTIATION
C6ORF32,一种调节成肌细胞分化的 HDAC6 结合蛋白
  • 批准号:
    8185253
  • 财政年份:
    2011
  • 资助金额:
    $ 53万
  • 项目类别:
C6ORF32, AN HDAC6-BINDING PROTEIN THAT REGULATES MYOBLAST DIFFERENTIATION
C6ORF32,一种调节成肌细胞分化的 HDAC6 结合蛋白
  • 批准号:
    8497627
  • 财政年份:
    2011
  • 资助金额:
    $ 53万
  • 项目类别:
Delivery of human muscle SP cells to dystrophic muscle
将人类肌肉 SP 细胞递送至营养不良的肌肉
  • 批准号:
    6943910
  • 财政年份:
    2004
  • 资助金额:
    $ 53万
  • 项目类别:
SP cells and downstream progenitors in human and mouse muscle
人和小鼠肌肉中的 SP 细胞和下游祖细胞
  • 批准号:
    8443428
  • 财政年份:
    2004
  • 资助金额:
    $ 53万
  • 项目类别:

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