Protein Biochemistry Core

该计划项目的核心资源集中在定义导致 骨软骨发育不良综合征。我们正在分子水平上确定蛋白质的后果 导致软骨结构缺陷的基因突变。该蛋白质具有活性的生化核心 通过提供来自专门方法的分析数据，与所有项目并行协作，包括 蛋白质质谱仪，用于组织样品、纯化蛋白质和细胞培养产品。两者都有 来自国际骨骼发育不良登记处的Luman材料和小鼠组织和细胞产品 罗姆基因工程转基因菌株正在研究中。关于自然和自然的假说 导致骨骼发育和成人功能异常的突变的生化效应是不可或缺的 所有项目和核心的总体目标和目的。蛋白质生物化学核心的重点是 了解突变的下游分子效应，这两种新的突变都是由人类基因确定的 墨迹和突变分析，以及已确定的突变，但其蛋白质上的关键问题仍然存在 并在小鼠身上造成转基因缺陷。后者的一个例子是全身胶原蛋白。 CRTAP-/-小鼠的缺陷。 核心工作的临床意义包括对有研究条件的家庭的直接好处 通过更具体的诊断。从长远来看，通过了解改变基因的影响 表达，理性的治疗方法是可能的。

This Core resource to a program-project is focused on defining inborn protein defects that cause osteochondrodysplasia syndromes. We are determining the protein consequences at the molecular level of mutations in genes that cause defects in cartilage structure. This Protein Biochemistry Core actively collaborates in parallel with all projects by providing analytical data from specialized methods, including protein mass spectrometry, applied to tissue samples, purified proteins and cell-culture products. Both luman material from the International Skeletal Dysplasias Registry and mouse tissue and cellular products rom genetically engineered transgenic strains are being studied. Hypotheses as to the nature and biochemical effects of mutations that cause abnormal skeletal development and adult function are integral to the overall goals and aims of all projects and cores. The focus of the Protein Biochemistry Core is to understand the downstream molecular effects of mutations, both new ones identified by human genetic inkage and mutational analysis, and established mutations still with key questions on their protein pathogenesis and created transgenic defects in mice. An example of the latter is the systemic collagen defect in crtap -/- mice. The clinical significance of core work includes direct benefits to families with the conditions under study through more specific diagnoses. In the long term, through an understanding of the effects of altered gene expression, rational approaches to therapy are possible.