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

Generation and characterization of NGLY1 patient-derived midbrain organoids

NGLY1 患者来源的中脑类器官的生成和表征

Joshua Abbott, Mitali Tambe, Ivan Pavlinov, Atena Farkhondeh, Ha Nam Nguyen, Miao Xu, Manisha Pradhan, Tate York, Matthew Might, Karsten Baumgärtel, Steven Rodems, Wei Zheng

Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling

IRF2BPL 缺失会通过过量的 Wnt 信号传导损害神经元的维持

Paul C Marcogliese, Debdeep Dutta, Shrestha Sinha Ray, Nghi D P Dang, Zhongyuan Zuo, Yuchun Wang, Di Lu, Fatima Fazal, Thomas A Ravenscroft, Hyunglok Chung, Oguz Kanca, JiJun Wan, Emilie D Douine, Undiagnosed Diseases Network, Loren D M Pena, Shinya Yamamoto, Stanley F Nelson, Matthew Might, Kathrin

An induced pluripotent stem cell-derived NMJ platform for study of the NGLY1-Congenital Disorder of Deglycosylation

诱导性多能干细胞衍生的 NMJ 平台,用于研究 NGLY1-先天性去糖基化障碍

Trevor Sasserath, Ashley L Robertson, Roxana Mendez, Tristan T Hays, Ethan Smith, Helena Cooper, Nesar Akanda, John W Rumsey, Xiufang Guo, Atena Farkhondeh, Manisha Pradhan, Karsten Baumgaertel, Matthew Might, Steven Rodems, Wei Zheng, James J Hickman

High-throughput protein modification quantitation analysis using intact protein MRM and its application on hENGase inhibitor screening

完整蛋白质MRM高通量蛋白质修饰定量分析及其在hENGase抑制剂筛选中的应用

Dingyin Tao, Miao Xu, Atena Farkhondeh, Andrew P Burns, Steven Rodems, Matthew Might, Wei Zheng, Christopher A LeClair

Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9

利用 CRISPR/Cas9 技术,从携带 NGLY1 基因纯合 p.R401X 突变的患者细胞系 (NCATS-CL6103) 中生成两条基因校正的人类同源 iPSC 细胞系 (NCATS-CL6104 和 NCATS-CL6105)。

Ivan Pavlinov ,Atena Farkhondeh ,Shu Yang ,Miao Xu ,Yu-Shan Cheng ,Jeanette Beers ,Jizhong Zou ,Chengyu Liu ,Matthew Might ,Steven Rodems ,Karsten Baumgärtel ,Wei Zheng

An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene

携带 NGLY1 基因复合杂合突变 p.R390P 和 p.L318P 的患者体内的诱导性多能干细胞系 (NCATS-CL9075)

Manisha Pradhan, Atena Farkhondeh, Yu-Shan Cheng, Miao Xu, Jeanette Beers, Jizhong Zou, Chengyu Liu, Matthew Might, Steven Rodems, Karsten Baumgärtel, Wei Zheng

Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene

从携带 NGLY1 基因复合杂合 p.Q208X 和 p.G310G 突变的患者中生成诱导性多能干细胞系 (TRNDi002-B)

Rong Li, Manisha Pradhan, Miao Xu, Amanda Baskfield, Atena Farkhondeh, Yu-Shan Cheng, Jeanette Beers, Jizhong Zou, Chengyu Liu, Matthew Might, Steven Rodems, Wei Zheng

Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches

NGLY1 缺乏症果蝇模型的转录组和功能分析为治疗方法提供了见解

Katie G Owings, Joshua B Lowry, Yiling Bi, Matthew Might, Clement Y Chow