Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in miceTRPV4作用于内皮细胞的功能获得性突变导致小鼠血-CNS屏障破坏和运动神经元变性SCIENCE TRANSLATIONAL MEDICINEIF14.62024-05-227OA
Kctd7 deficiency induces myoclonic seizures associated with Purkinje cell death and microvascular defectsDISEASE MODELS & MECHANISMSIF3.32022-09-136OAAI
Multiubiquitination of TRPV4 reduces channel activity independent of surface localizationJOURNAL OF BIOLOGICAL CHEMISTRYIF3.92022-04-017OAAI
LKB1 coordinates neurite remodeling to drive synapse layer emergence in the outer retinaELIFEIF02020-05-078OA
Progressive myoclonic epilepsy-associated gene Kctd7 regulates retinal neurovascular patterning and functionNEUROCHEMISTRY INTERNATIONALIF42019-10-018OAAI