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

Endolysosomal N-glycan processing is critical to attain the most active form of the enzyme acid alpha-glucosidase

内溶酶体 N-糖加工对于获得酸性 α-葡萄糖苷酶最活跃的形式至关重要

Nithya Selvan, Nickita Mehta, Suresh Venkateswaran, Nastry Brignol, Matthew Graziano, M Osman Sheikh, Yuliya McAnany, Finn Hung, Matthew Madrid, Renee Krampetz, Nicholas Siano, Anuj Mehta, Jon Brudvig, Russell Gotschall, Jill M Weimer, Hung V Do

O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

与 X 连锁智力障碍相关的 O-GlcNAc 转移酶错义突变使参与细胞命运决定和信号传导的基因失调

Nithya Selvan, Stephan George, Fatema J Serajee, Marie Shaw, Lynne Hobson, Vera Kalscheuer, Nripesh Prasad, Shawn E Levy, Juliet Taylor, Salim Aftimos, Charles E Schwartz, Ahm M Huq, Jozef Gecz, Lance Wells

A mutant O-GlcNAcase enriches Drosophila developmental regulators

突变的 O-GlcNAcase 丰富了果蝇的发育调节剂

Nithya Selvan, Ritchie Williamson, Daniel Mariappa, David G Campbell, Robert Gourlay, Andrew T Ferenbach, Tonia Aristotelous, Iva Hopkins-Navratilova, Matthias Trost, Daan M F van Aalten

Identification and characterization of a missense mutation in the O-linked β- N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability

鉴定并表征了O-连接β-N-乙酰氨基葡萄糖(O-GlcNAc)转移酶基因中的错义突变,该突变与X连锁智力障碍共分离

Krithika Vaidyanathan ,Tejasvi Niranjan ,Nithya Selvan ,Chin Fen Teo ,Melanie May ,Sneha Patel ,Brent Weatherly ,Cindy Skinner ,John Opitz ,John Carey ,David Viskochil ,Jozef Gecz ,Marie Shaw ,Yunhui Peng ,Emil Alexov ,Tao Wang ,Charles Schwartz ,Lance Wells

A mutant O-GlcNAcase as a probe to reveal global dynamics of protein O-GlcNAcylation during Drosophila embryonic development

突变 O-GlcNAcase 作为探针揭示果蝇胚胎发育过程中蛋白质 O-GlcNAcylation 的整体动态

Daniel Mariappa #, Nithya Selvan #, Vladimir Borodkin, Jana Alonso, Andrew T Ferenbach, Claire Shepherd, Iva Hopkins Navratilova, Daan M F vanAalten