BackgroundPrimary cilia are membrane-bound microtubule-based protuberances of the cell membrane projecting to the extracellular environment. While little attention was paid to this subcellular structure over a long time, recent research has highlighted multiple cellular functions of primary cilia and has brought cilia to the focus of medical and cell biological research.FindingsCilia are nowadays considered to be crucial cellular structures controlling diverse intracellular signaling cascades. Dysfunction of cilia leads to a pleiotropic group of diseases ranging from cystic kidney disease via neurologic disorders to metabolic phenotypes and cardiac malformations. According to the underlying cellular pathophysiology, these diverse disorders have been subsumed under the term “ciliopathies”.ConclusionsThe work on rare human ciliopathies has strongly deepened our genetic and cell biological understanding of multiple diseases and cellular events thus ultimately leading to clinical trials of novel therapeutic approaches. This review focuses on some of the important developments in ciliopathy research.

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纤毛病——从罕见的遗传性囊性肾病到基本的细胞功能

背景初级纤毛是细胞膜突出到细胞外环境的基于膜的微管突起。虽然长期以来对这种亚细胞结构的关注很少，但最近的研究强调了初级纤毛的多种细胞功能，并将纤毛带入医学和细胞生物学研究的焦点。信号级联。纤毛功能障碍会导致一系列疾病，从囊性肾病到神经系统疾病，再到代谢表型和心脏畸形。根据潜在的细胞病理生理学，这些不同的疾病已归入术语“纤毛病”。结论对罕见人类纤毛病的研究极大地加深了我们对多种疾病和细胞事件的遗传和细胞生物学理解，从而最终导致了新治疗方法的临床试验。本综述重点关注纤毛病研究的一些重要进展。