靶向泛素蛋白酶体系统治疗脊髓性肌萎缩症-猫眼课题宝

靶向泛素蛋白酶体系统治疗脊髓性肌萎缩症

批准号：

9250820

负责人：

Barrington G Burnett

金额：

$30.37万

依托单位：

HENRY M. JACKSON FDN FOR THE ADV MIL/MED

依托单位国家：

美国

项目类别：

财政年份：

2016

资助国家：

美国

项目状态：

已结题

起止时间：

2016-04-01 至 2020-12-31

来源：

https://reporter.nih.gov/project-details/9250820

关键词：

Affect Alpha Cell Biological Assay Cause of Death Child Data Disease Enzymes Event Genes Genetic Human Induced Mutation Infant Infant Mortality Inherited Live Birth Longevity Mind Molecular Motor Motor Neuron Disease Motor Neurons Mutation Neuraxis Pathway interactions Patients Phosphoric Monoester Hydrolases Phosphotransferases Protein Isoforms Proteins Proteolysis RNA Splicing RNA interference screen Regulation Reporter Rodent Role SMN protein (spinal muscular atrophy)SMN2 gene Spinal Muscular Atrophy System Testing Therapeutic Ubiquitin Ubiquitination base disease phenotype effective therapy experimental study gene product genome-wide improved infant death loss of function mouse model multicatalytic endopeptidase complex neuromuscular new therapeutic target novel protein degradation public health relevance relating to nervous system restoration small molecule spatiotemporal therapeutic development therapy development ubiquitin-protein ligase

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中文摘要

翻译

描述（由申请人提供）：脊髓性肌萎缩症（SMA）是婴幼儿最常见的遗传性死亡原因。SMA是由运动神经元存活1（SMN 1）基因的缺失或突变引起的，导致普遍表达的SMN蛋白缺乏。目前，SMA尚无有效的治疗选择。来自人类和啮齿动物研究的证据表明，增加中枢神经系统中的SMN蛋白水平足以改善疾病表型并延长生存期。为了鉴定SMN蛋白水平的保护性修饰剂，我们进行了全基因组RNAi筛选。我们在此筛选中确定的基因将使我们能够研究调节SMN蛋白水平的遗传修饰剂和分子途径。这些靶点和途径应为SMA治疗的治疗开发提供新的途径。

英文摘要

DESCRIPTION (provided by applicant): Spinal muscular atrophy (SMA) is the most common inherited cause of death in infants and young children. SMA is caused by the deletion or mutation in the survival of motor neuron 1 (SMN1) gene, leading to a deficiency of the ubiquitously expressed SMN protein. Currently, there is no effective treatment option available for SMA. Evidence from studies in humans and rodents suggests that increasing SMN protein levels in the central nervous system is sufficient to ameliorate the disease phenotype and prolong survival. To identify protective modifiers of SMN protein levels we performed a genome-wide RNAi screen. Genes we identified in this screen will allow us to investigate genetic modifiers and molecular pathways that regulate SMN protein levels. These targets and pathways should provide novel avenues for therapeutic development for the treatment of SMA.

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