An intellectual disability‐associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity-Reference-Cited by-同舟云学术

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

Published:2020-01-16 Issue:3 Volume:41 Page:600-607
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Zhang Kejia¹,Lentini Jenna M.¹,Prevost Christopher T.¹^ORCID,Hashem Mais O.²³,Alkuraya Fowzan S.²³^ORCID,Fu Dragony¹^ORCID

Affiliation:

1. Department of Biology, Center for RNA BiologyUniversity of Rochester Rochester New York

2. Department of GeneticsKing Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

3. Department of Anatomy and Cell Biology, College of MedicineAlfaisal University Riyadh Saudi Arabia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23976

Reference66 articles.

1. Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

2. A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease

3. Mutation inADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus

4. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

5. The Emerging Field of Epitranscriptomics in Neurodevelopmental and Neuronal Disorders

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1. Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder;2024-07-22

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

3. Methylation modifications in tRNA and associated disorders: Current research and potential therapeutic targets;Cell Proliferation;2024-06-28

4. Proteolytic cleavage and inactivation of the TRMT1 tRNA modification enzyme by SARS-CoV-2 main protease;eLife;2024-05-30

5. Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAs;2024-05-21

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