Topic: synaptic maturation

Exome sequencing has enabled the identification of causative genes of monogenic forms of autism, amongst them, in 2016, CSNK2A1, the gene encoding the catalytic subunit of the kinase CK2, linking this kinase to Okur-Chung Neurodevelopmental Syndrome (OCNDS), a newly described neurodevelopmental condition with many symptoms resembling those of autism spectrum disorder.Thus far, no preclinical model of this condition exists. Here we describe a knock-in (KI) mouse model that harbors the K198R mutation in the activation segment of the kinase. This site is a mutational hotspot, representing one-thi

Tau, a microtubule-associated protein pivotal for neuronal integrity, is actively involved in retinal development, regulating growth, differentiation, and maturation processes. Mutations in tau can lead to misfolded protein and fibrils formation, disrupting cellular processes and damaging retinal tissue. Previous studies have identified pathological hallmarks of tauopathies, such as Frontotemporal Dementia (FTD), in the retina of patients even in the early stage of pathology. However, the precise molecular mechanisms and the direct sequence of events underlying this process remain poorly under