Affiliation: Huazhong University of Science and Technology
Liu F, Chen J, Yu S, Raghupathy R, Liu X, Qin Y, et al. Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish. Hum Mol Genet. 2015;24:4648-59 pubmed publisher
Liu Y, Wang J, Qin Y, Huang C, Archacki S, Ma J, et al. Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis. Clin Chim Acta. 2016;454:124-9 pubmed publisher
..A 50% probability of detecting a MVK mutation in six DSAP sporadic cases indicated that the MVK gene was useful for clinical characterization, genetic counseling and prenatal diagnosis of DSAP. ..
Liu F, Qin Y, Yu S, Soares D, Yang L, Weng J, et al. Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish. J Biol Chem. 2017;292:6225-6239 pubmed publisher
..Our study also reveals a role of the C-terminal domain of RP2 in maintaining the overall protein stability. ..