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Items: 2

Select item 81051691.

A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy

Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Ling Cai, Brandi L. Cantarel, Jimin Pei, Nick V. Grishin, Stacy Hewson, Devon Knight, Sonal Mahida, Donnice Michel, Mark Tarnopolsky, Annapurna Poduri, Alexander Rotenberg, Neal Sondheimer, Ralph J. DeBerardinis

Genet Med. 2021; 23(5): 900–908. Published online 2021 Jan 20. doi: 10.1038/s41436-020-01071-z

PMCID:: PMC8105169

Abstract Article PDF–2.0M

Select item 30604792.

Structure of Ubiquitin-fold Modifier 1-specific Protease UfSP2

Byung Hak Ha, Young Joo Jeon, Sang Chul Shin, Kanako Tatsumi, Masaaki Komatsu, Keiji Tanaka, Christopher M. Watson, Gillian Wallis, Chin Ha Chung, Eunice EunKyeong Kim

J Biol Chem. 2011 Mar 25; 286(12): 10248–10257. Published online 2011 Jan 12. doi: 10.1074/jbc.M110.172171