FACIT collagens XII and XIV and their role in musculoskeletal homeostasis and regeneration

胶原蛋白家族的蛋白质对肌肉骨骼系统起着重要的作用。胶原蛋白依赖性遗传性疾病如肌病和Ehler-Danlos综合征就是例证。胶原蛋白的一个亚组归因于胶原蛋白相关蛋白，并且该组中的蛋白质，称为胶原蛋白XII，在我们的实验室中首次被描述为由皮肤成纤维细胞分泌的蛋白质。最近，我们能够证明其参与细胞外基质描述新的结合伴侣的胶原蛋白XII。与其他人，我们能够检测到胶原蛋白XII突变在几个病人的家庭，这些患者表现出肌病，关节过度活动和皮肤软萎缩疤痕。此外，我们可以检测到小鼠和患者膝盖的变化，这可能导致髌骨脱位。本项目的目的是阐明胶原蛋白XII和XIV在神经肌肉系统中的功能。特别是，我们将研究胶原蛋白XII和XIV在损伤后肌肉和神经再生中的作用。分子信号通路也将进行更详细的研究。除了了解胶原蛋白XII和XIV的功能外，这项工作还将有助于确定新的治疗选择

Proteins of the collagen family fulfil important functions for the musculoskeletal system. This is illustrated by collagen-dependent inherited diseases such as myopathy and Ehler-Danlos syndrome. A subgroup of collagens is attributed to collagen-associated proteins, and a protein within this group, termed collagen XII, was described for the first time in our laboratory as a protein secreted by skin fibroblasts. Recently, we were able to demonstrate its involvement in the extracellular matrix by describing new binding partners for collagen XII. With others, we were able to detect collagen XII mutations in several patient families, with these patients exhibiting myopathies, joint hypermobility and soft skin with atrophic scarring. Furthermore, we could detect changes in the knee in mice as well as in the patients, which can lead to patellar luxation. The aim of this project is to clarify the function of collagens XII and XIV in the neuromuscular system. In particular, we will investigate the role of collagens XII and XIV in muscle and nerve regeneration after injury. The molecular signalling pathways will also be investigated in more detail. In addition to understanding the function of collagens XII and XIV, this work will also serve to identify new therapeutic options for treatment