Progressive myoclonic epilepsy-associated gene Kctd7 regulates retinal neurovascular patterning and function.

ABSTRACT: Neuron function relies on and instructs the development and precise organization of neurovascular units that in turn support circuit activity. However, our understanding of the molecular cues that regulate this relationship remains sparse. Using a high-throughput screening pipeline, we recently identified several new regulators of vascular patterning. Among these was the potassium channel tetramerization domain-containing protein 7 (KCTD7). Mutations in KCTD7 are associated with progressive myoclonic epilepsy, but how KCTD7 regulates neural development and function remains poorly understood. To begin to identify such mechanisms, we focus on mouse retina, a tractable part of the central nervous system that contains precisely ordered neuron subtypes supported by a trilaminar vascular network

SUBMITTER: Alevy J 

PROVIDER: S-EPMC6702070 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature