Literature DB >> 30308082

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

Hanadi A Abdelrahman1, Aisha M Al-Shamsi2, Bassam R Ali1,3, Lihadh Al-Gazali1.   

Abstract

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Year:  2018        PMID： 30308082     DOI： 10.1111/cge.13443

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 in total

1.  THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.

Authors:  Martin Broly; Bogdan V Polevoda; Kamel M Awayda; Ning Tong; Jenna Lentini; Thomas Besnard; Wallid Deb; Declan O'Rourke; Julia Baptista; Sian Ellard; Mohammed Almannai; Mais Hashem; Ferdous Abdulwahab; Hanan Shamseldin; Saeed Al-Tala; Fowzan S Alkuraya; Alberta Leon; Rosa L E van Loon; Alessandra Ferlini; Mariabeatrice Sanchini; Stefania Bigoni; Andrea Ciorba; Hans van Bokhoven; Zafar Iqbal; Almundher Al-Maawali; Fathiya Al-Murshedi; Anuradha Ganesh; Watfa Al-Mamari; Sze Chern Lim; Lynn S Pais; Natasha Brown; Saima Riazuddin; Stéphane Bézieau; Dragony Fu; Bertrand Isidor; Benjamin Cogné; Mitchell R O'Connell
Journal:  Am J Hum Genet       Date:  2022-02-22       Impact factor: 11.043

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

Authors:  Kejia Zhang; Jenna M Lentini; Christopher T Prevost; Mais O Hashem; Fowzan S Alkuraya; Dragony Fu
Journal:  Hum Mutat       Date:  2020-01-16       Impact factor: 4.878

3.  Matching tRNA modifications in humans to their known and predicted enzymes.

Authors:  Valérie de Crécy-Lagard; Pietro Boccaletto; Carl G Mangleburg; Puneet Sharma; Todd M Lowe; Sebastian A Leidel; Janusz M Bujnicki
Journal:  Nucleic Acids Res       Date:  2019-03-18       Impact factor: 16.971

4.  Genome-wide DNA methylation meta-analysis in the brains of suicide completers.

Authors:  Emma L Dempster; Therese M Murphy; Stefania Policicchio; Sam Washer; Joana Viana; Artemis Iatrou; Joe Burrage; Eilis Hannon; Gustavo Turecki; Zachary Kaminsky; Jonathan Mill
Journal:  Transl Psychiatry       Date:  2020-02-19       Impact factor: 6.222

Review 5.  Human transfer RNA modopathies: diseases caused by aberrations in transfer RNA modifications.

Authors:  Takeshi Chujo; Kazuhito Tomizawa
Journal:  FEBS J       Date:  2021-02-16       Impact factor: 5.622
  5 in total

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