日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder

O-GlcNAc糖基化修饰调节遗传性糖基化障碍中N-糖基化机制的表达和丰度

Courtney Matheny-Rabun ,Sneha S Mokashi ,Silvia Radenkovic ,Kali Wiggins ,Lynn Dukes-Rimsky ,Peggi Angel ,Bart Ghesquiere ,Tamas Kozicz ,Richard Steet ,Eva Morava ,Heather Flanagan-Steet

Tracer metabolomics reveals the role of aldose reductase in glycosylation

示踪代谢组学揭示醛糖还原酶在糖基化中的作用

Silvia Radenkovic, Anna N Ligezka, Sneha S Mokashi, Karen Driesen, Lynn Dukes-Rimsky, Graeme Preston, Luckio F Owuocha, Leila Sabbagh, Jehan Mousa, Christina Lam, Andrew Edmondson, Austin Larson, Matthew Schultz, Pieter Vermeersch, David Cassiman, Peter Witters, Lesa J Beamer, Tamas Kozicz, Heather

Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis

N-钙粘蛋白加工中蛋白酶依赖性缺陷导致 PMM2-CDG 发病机制

Elsenoor J Klaver, Lynn Dukes-Rimsky, Brijesh Kumar, Zhi-Jie Xia, Tammie Dang, Mark A Lehrman, Peggi Angel, Richard R Drake, Hudson H Freeze, Richard Steet, Heather Flanagan-Steet

The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders

新型 lncRNA lnc-NR2F1 具有促神经发生作用,在人类神经发育障碍中发生突变

Cheen Euong Ang #, Qing Ma #, Orly L Wapinski #, ShengHua Fan, Ryan A Flynn, Qian Yi Lee, Bradley Coe, Masahiro Onoguchi, Victor Hipolito Olmos, Brian T Do, Lynn Dukes-Rimsky, Jin Xu, Koji Tanabe, LiangJiang Wang, Ulrich Elling, Josef M Penninger, Yang Zhao, Kun Qu, Evan E Eichler, Anand Srivastava 

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation

影响 BDNF 增强子驱动转录活性的罕见 De Novo RAI1 基因突变与自闭症和非典型 Smith-Magenis 综合征表现有关

Clemer Abad, Melissa M Cook, Lei Cao, Julie R Jones, Nalini R Rao, Lynn Dukes-Rimsky, Rini Pauly, Cindy Skinner, Yunsheng Wang, Feng Luo, Roger E Stevenson, Katherina Walz, Anand K Srivastava