EVALUATION OF FUKUTIN RELATED PROTEIN MUSCULAR DYSTROPHY

Fukutin相关蛋白性肌营养不良症的评估

• 批准号: 7604872
• 负责人: Katherine Dianne Mathews
• 金额: $ 0.11万
• 依托单位: UNIVERSITY OF IOWA
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-03-01 至 2007-09-16
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7604872
• 关键词: Clinical; Computer Retrieval of Information on Scientific Projects Database; Disease; Disease Progression; Evaluation; Event; Funding; Genetic; Genetic Determinism; Goals; Grant; Heterogeneity; Individual; Institution; Modeling; Muscular Dystrophies; Mutation; Proteins; Range; Recommendation; Research; Research Personnel; Resources; Source; Therapeutic; Therapy Clinical Trials; United States National Institutes of Health; base; clinical phenotype; glycosyltransferase; mouse model

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Mutations in the putative glycosyltransferase fukutin related protein (FKRP) result in muscular dystrophy with a very wide range of clinical phenotypes. Our long-term goal is to develop therapeutic strategies for the treatment of FKRP muscular dystrophies. To achieve this goal, we must first study the genetic and non-genetic determinants of variability in the clinical course of FKRP-related muscular dystrophies (FKRP-MDs) to better understand the basis for individual variability, formulate clinical recommendations, and generate ideas for new therapies. Defining the clinical variability in this group of diseases is also a necessary baseline before therapeutic trials can be developed. We will also generate a mouse model for FKRP muscular dystrophy to study the pathogenic events underlying disease progression, provide a model to study the impact of non-genetic variables on disease heterogeneity, and enable the assessment of potential therapeutic strategies.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 假定的糖基转移酶富丁蛋白（FKRP）的突变导致肌肉营养不良，具有非常广泛的临床表型。 我们的长期目标是制定治疗FKRP肌肉营养不良的治疗策略。 为了实现这一目标，我们必须首先研究与FKRP相关肌营养不良症（FKRP-MDS）临床过程中变异性的遗传和非遗传决定因素，以更好地了解个体变异性，提出临床建议的基础，并为新疗法产生思想。 在建立治疗试验之前，定义这组疾病的临床变异性也是必要的基线。 我们还将为FKRP肌肉营养不良症生成小鼠模型，以研究疾病进展的致病事件，提供了一个模型来研究非遗传变量对疾病异质性的影响，并能够评估潜在的治疗策略。