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。胶原依赖性遗传疾病如肌病和埃勒-丹洛斯综合征就说明了这一点。胶原蛋白的一个亚组属于胶原相关蛋白，这一组中的一种蛋白质被称为胶原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，我们能够通过描述胶原蛋白XII的新结合伙伴来证明其参与细胞外基质。另外，我们能够在几个患者家族中检测到胶原蛋白XII突变，这些患者表现出肌病、关节活动过度和皮肤柔软并伴有萎缩性瘢痕。此外，我们可以在小鼠和患者中检测到膝关节的变化，这可能导致髌骨脱位。该项目的目的是阐明胶原XII和XIV在神经肌肉系统中的功能。特别是，我们将研究XII和XIV胶原在损伤后肌肉和神经再生中的作用。分子信号通路也将被更详细地研究。除了了解XII和XIV胶原的功能外，这项工作还将有助于确定新的治疗方案

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