PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation

Author:

Han Sangwoo T.,Kim Andrew C.,Garcia Karolyn,Schimmenti Lisa A.,Macnamara Ellen,Network Undiagnosed Diseases,Gahl William A.,Malicdan May C.,Tifft Cynthia J.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Cited by 9 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Exploring pseudouridylation: dysregulation in disease and therapeutic potential;Current Opinion in Genetics & Development;2024-08

2. Lost in translation: How neurons cope with tRNA decoding;BioEssays;2024-07-11

3. Drugging the Epitranscriptome;Methods and Principles in Medicinal Chemistry;2024-07-05

4. Research progress of RNA pseudouridine modification in nervous system;International Journal of Neuroscience;2024-02-29

5. Why U matters: detection and functions of pseudouridine modifications in mRNAs;Trends in Biochemical Sciences;2024-01

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