Article
A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.
Human molecular genetics - 1 Jun 2016
Chan Barden, Clasquin Michelle, Smolen Gromoslaw A, Histen Gavin, Powe Josh, Chen Yue, Lin Zhizhong, Lu Chenming, Liu Yan, Cang Yong, Yan Zhonghua, Xia Yuanfeng, Thompson Ryan, Singleton Chris, Dorsch Marion, Silverman Lee, Su Shin-San Michael, Freeze Hudson H, Jin Shengfang
Abstract excerpt
The most common congenital disorder of glycosylation (CDG), phosphomannomutase 2 (PMM2)-CDG, is caused by mutations in PMM2 that limit availability of mannose precursors required for protein N-glycosylation. The disorder has no therapy and there are no models to test new treatments. We generated compound heterozygous mice with the R137H and F115L mutations in Pmm2 that correspond to the most prevalent alleles...
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