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The role of the mitochondrial protein dimer CHCHD2/10 in health and disease

The role of the mitochondrial protein dimer CHCHD2/10 in health and disease
线粒体蛋白二聚体 CHCHD2/10 在健康和疾病中的作用
批准号:
10164492
负责人:
Giovanni Manfredi
金额:
$6.95万
依托单位国家:
美国
项目类别:
财政年份:
2020
资助国家:
美国
项目状态:
已结题
起止时间:
2020-07-01 至 2021-03-31

项目摘要

项目成果

Giovanni Manfredi的其他基金

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相关文献

中文摘要
翻译
骨骼肌、心脏和大脑是需要能量的组织,它们受到线粒体的严重影响
英文摘要
Skeletal muscle, heart, and brain are high-energy requiring tissues that are severely affected by mitochondrial dysfunction. Recently a novel form of genetic disease affecting mitochondria has been associated with mutations in a mitochondrial protein, CHCHD10 (D10), whose function is still largely unknown. Mutant D10 causes severe autosomal dominant mitochondrial diseases, with diverse phenotypic features, ranging from myopathy and cardiomyopathy to motor neuron disease and frontotemporal dementia. The parent R01 that is linked to this application for Diversity Supplement investigates the normal function of D10 and the mechanisms underlying mitochondrial alterations in D10 S55L mutant mice. The supplement will support the work of Ms. Nneka Southwell, a graduate student in the Neuroscience Program in Dr. Manfredi’s group. The focus of the studies proposed in the supplement is on the metabolic rewiring involving 1C metabolism and nucleotide imbalance, which she has observed in the D10 S55L mutant mouse, starting from the most affected tissue, the heart, but also exploring metabolic alterations in various brain regions. The latter is highly innovative because very little is known about mitochondrial metabolic stress responses in the CNS and it is possible that some pathways are shared with heart and other tissues, while other could differ entirely. Maladaptive metabolic rewiring is an emerging and fascinating field, which holds exciting promise to provide novel disease biomarkers and therapeutic targets, not only for this mitochondrial disorder, but also for many other diseases that share metabolic adaptation mechanisms. The studies proposed for this Diversity Supplement will provide ample opportunities for Ms. Southwell to become an expert in metabolism and disease, an area of research that is gaining tremendous momentum in the biomedical space, as a role for metabolic dysregulation is increasingly being linked to a broad spectrum of diseases. The knowledge and technical skills that she will accumulate working on this project will position her well to being able to develop her independent, cutting-edge research on the role of metabolic dysfunction in degenerative diseases.
期刊论文(3)
专著(0)
科研奖励(0)
会议论文
DOI: 10.1016/j.celrep.2022.110475
发表时间: 2022-03-08
期刊: CELL REPORTS
影响因子: 8.8
作者: [Sayles, Nicole M., Southwell, Nneka, McAvoy, Kevin, Kim, Kihwan, Pesini, Alba, Anderson, Corey J., Quinzii, Catarina, Cloonan, Suzanne, Kawamata, Hibiki, Manfredi, Giovanni]
通讯作者: Manfredi, Giovanni
DOI: 10.15252/emmm.202216951
发表时间: 2023-07-10
期刊: EMBO molecular medicine
影响因子: 11.1
作者: []
通讯作者:
DOI: 10.1093/hmg/ddab329
发表时间: 2021-11
期刊: Human molecular genetics
影响因子: 3.5
作者: [Mai K Nguyen;Kevin McAvoy;Szu-Chi Liao;Z. Doric;Iris Lo;Huihui Li;G. Manfredi;Ken Nakamura-Ken-Nakamur]
通讯作者: Mai K Nguyen;Kevin McAvoy;Szu-Chi Liao;Z. Doric;Iris Lo;Huihui Li;G. Manfredi;Ken Nakamura-Ken-Nakamur
Mitochondrial Integrated Stress Response in Neurological Diseases
Mitochondrial Integrated Stress Response in Neurological Diseases
Mitochondrial Integrated Stress Response in Neurological Diseases
Mitochondrial Integrated Stress Response in Neurological Diseases
国内基金
海外基金
层出镰刀菌氮代谢调控因子AreA 介导伏马菌素 FB1 生物合成的作用机理
  • 批准号:
    2021JJ40433
  • 项目类别:
    省市级项目
  • 资助金额:
    --
  • 批准年份:
    2021
  • 负责人:
    孙磊
  • 依托单位:
寄主诱导梢腐病菌AreA和CYP51基因沉默增强甘蔗抗病性机制解析
  • 批准号:
    32001603
  • 项目类别:
    青年科学基金项目
  • 资助金额:
    24.0万元
  • 批准年份:
    2020
  • 负责人:
    段真珍
  • 依托单位:
AREA国际经济模型的移植.改进和应用
  • 批准号:
    18870435
  • 项目类别:
    面上项目
  • 资助金额:
    2.0万元
  • 批准年份:
    1988
  • 负责人:
    史树中
  • 依托单位: