Affiliation: SUNY Upstate Medical University
Hu H, Yang Y, Eade A, Xiong Y, Qi Y. Breaches of the pial basement membrane and disappearance of the glia limitans during development underlie the cortical lamination defect in the mouse model of muscle-eye-brain disease. J Comp Neurol. 2007;501:168-83 pubmed
Hu H, Liu Y, Bampoe K, He Y, Yu M. Postnatal Gene Therapy Improves Spatial Learning Despite the Presence of Neuronal Ectopia in a Model of Neuronal Migration Disorder. Genes (Basel). 2016;7: pubmed
..These results indicate that postnatal gene therapy improves spatial learning despite the presence of neuronal ectopia. ..
Hu H, Candiello J, Zhang P, Ball S, Cameron D, Halfter W. Retinal ectopias and mechanically weakened basement membrane in a mouse model of muscle-eye-brain (MEB) disease congenital muscular dystrophy. Mol Vis. 2010;16:1415-28 pubmed
..Deficiency of POMGnT1-mediated glycosylation of dystroglycan is implicated in reduced stiffness of the ILM. The weakened ILM results in the disruption of the membrane and subsequent reduction in retinal integrity. ..
Hu H, Li J, Zhang Z, Yu M. Pikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpression. Neurosci Lett. 2011;489:10-5 pubmed publisher
..These results indicate that pikachurin interactions with ?-dystroglycan and its localization at the photoreceptor ribbon synapse require normal glycosylation of ?-dystroglycan. ..
Hu H, Li J, Gagen C, Gray N, Zhang Z, Qi Y, et al
. Conditional knockout of protein O-mannosyltransferase 2 reveals tissue-specific roles of O-mannosyl glycosylation in brain development. J Comp Neurol. 2011;519:1320-37 pubmed publisher
..Thus, normal brain development requires protein O-mannosylation activity in neural tissue but not the meninges. These results suggest that gene therapy should be directed to the neural tissue instead of the meninges. ..
Yu M, Liu Y, Li J, Natale B, Cao S, Wang D, et al
. Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish. Biol Open. 2016;5:1662-1673 pubmed publisher
..Our results indicate that EYS protein localization is species-dependent and that EYS is required for maintaining ciliary pocket morphology and survival of photoreceptors in zebrafish. ..