Topic: ciliopathies

Primary cilia are sensory organelles understood to play important roles throughout development, as evidenced by the spectrum of neurodevelopmental phenotypes observed in instances of ciliary dysfunction (termed ciliopathies). Recent research indicates that in the adult brain, primary cilia may play roles in excitability, maintaining synaptic connectivity, and even form specialised synapses capable of altering the transcriptional landscape of neurons.To further understand the role of cilia in postmitotic neurons, we generated human induced pluripotent stem cell lines (hiPSCs) with NPHP1-/- and

Primary cilia receive extracellular signals and transmit them to the interior implementing signal transduction. These organelles enable the cell to communicate and realize essential processes such as proliferation and migration. Disruption of primary cilia signaling will lead to a multitude of human diseases called ciliopathies. Ciliopathies are often linked to malformations of the central nervous system. Abnormalities in cilia length are a parameter for inadequate function of primary cilia. Especially in situations when oxygen supply falls short, e.g. during an ischemic stroke, it is necessar

Cerebrospinal fluid (CSF) is integral to brain architecture, providing mechanical and nutritional support to the tissue while clearing metabolic waste. Recent research reveals its potential role in neuromodulation through its transport of various signaling molecules. Yet, to what extend CSF impacts the direct delivery of such molecules is poorly understood. CSF circulation is tightly regulated by a combination of factors such as cardiac activity, glial regulation, and notably, ciliary beating of ependymal cells lining the brain ventricles. Ciliary dysfunction, as observed in ciliopathies, ofte

Primary cilia are non-motile, antenna-like organelles present on the surface of most human cell types. They play an essential role in processes such as proliferation, apoptosis, migration, and differentiation. Primary cilia are involved in many signalling pathways, including Hedgehog, WNT, and TGF-β. Consequently, ciliary dysfunctions lead to severe diseases known as ciliopathies.The formation and function of primary cilia are closely associated with the cell's oxygen supply. Proper cell function requires adequate oxygen levels, so cells must respond quickly to any deviation from the norm. The