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

Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAs.

人类 TRMT1 和 TRMT1L 旁系同源物确保 tRNA 的正确修饰状态、稳定性和功能

Zhang Kejia, Manning Aidan C, Lentini Jenna M, Howard Jonathan, Dalwigk Felix, Maroofian Reza, Efthymiou Stephanie, Chan Patricia, Eliseev Sergei I, Yang Zi, Chang Hayley, Karimiani Ehsan Ghayoor, Bakhshoodeh Behnoosh, Houlden Henry, Kaiser Stefanie M, Lowe Todd M, Fu Dragony

Epileptic encephalopathy linked to a DALRD3 missense variant that impairs tRNA modification

与DALRD3错义变异相关的癫痫性脑病,该变异会损害tRNA修饰

Zhang, Kejia; Löhner, Katharina; Lemmink, Henny H; Boon, Maartje; Lentini, Jenna M; de Silva, Naduni; Fu, Dragony

tRNA modification enzyme-dependent redox homeostasis regulates synapse formation and memory

tRNA修饰酶依赖的氧化还原稳态调节突触形成和记忆

Madhwani, Kimberly R; Sayied, Shanzeh; Ogata, Carlson H; Hogan, Caley A; Lentini, Jenna M; Mallik, Moushami; Dumouchel, Jennifer L; Storkebaum, Erik; Fu, Dragony; O'Connor-Giles, Kate M

An intellectual disability-associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity

TRMT1基因中与智力障碍相关的错义变异会损害tRNA修饰和酶活性的恢复。

Zhang, Kejia; Lentini, Jenna M; Prevost, Christopher T; Hashem, Mais O; Alkuraya, Fowzan S; Fu, Dragony

Ordered subset analysis of copy number variation association with age at onset of Alzheimer's disease

有序子集分析拷贝数变异与阿尔茨海默病发病年龄的关联

Szigeti, Kinga; Kellermayer, Blanka; Lentini, Jenna M; Trummer, Brian; Lal, Deepika; Doody, Rachelle S; Yan, Li; Liu, Song; Ma, Changxing