Genetics of autism spectrum disorder: an umbrella review of systematic reviews and meta-analyses

S Qiu, Y Qiu, Y Li, X Cong - Translational Psychiatry, 2022 - nature.com
Autism spectrum disorder (ASD) is a class of neurodevelopmental conditions with a large
epidemiological and societal impact worldwide. To date, numerous studies have …

Comprehensive systematic review and meta-analysis of the association between common genetic variants and autism spectrum disorder

Y Fang, Y Cui, Z Yin, M Hou, P Guo, H Wang, N Liu… - Gene, 2023 - Elsevier
Background Autism spectrum disorder (ASD) is neurodevelopmental disorder characterized
by stereotyped behavior and deficits in communication and social interactions. To date …

Cryo-EM structure of the fully assembled Elongator complex

M Jaciuk, D Scherf, K Kaszuba, M Gaik… - Nucleic Acids …, 2023 - academic.oup.com
Transfer RNA (tRNA) molecules are essential to decode messenger RNA codons during
protein synthesis. All known tRNAs are heavily modified at multiple positions through post …

Dysregulation of the Wnt/β-catenin signaling pathway via Rnf146 upregulation in a VPA-induced mouse model of autism spectrum disorder

G Park, WE Jang, S Kim, EL Gonzales, J Ji… - … & Molecular Medicine, 2023 - nature.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder associated with impaired
social behavior and communication, repetitive behaviors, and restricted interests. In addition …

A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype

M Kojic, NEH Abbassi, TY Lin, A Jones… - Journal of Human …, 2023 - nature.com
Abstract Background Neurodevelopmental disorders (NDDs) are heterogeneous,
debilitating conditions that include motor and cognitive disability and social deficits. The …

Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia

AM Cheney, SM Costello, NV Pinkham… - Nature …, 2023 - nature.com
Familial dysautonomia (FD) is a rare genetic neurologic disorder caused by impaired
neuronal development and progressive degeneration of both the peripheral and central …

Elongator stabilizes microtubules to control central spindle asymmetry and polarized trafficking of cell fate determinants

VJ Planelles-Herrero, A Bittleston, C Seum… - Nature cell …, 2022 - nature.com
Asymmetric cell division gives rise to two daughter cells that inherit different determinants,
thereby acquiring different fates. Polarized trafficking of endosomes containing fate …

[HTML][HTML] The epitranscriptome in ageing and stress resistance: a systematic review

A Wagner, M Schosserer - Ageing Research Reviews, 2022 - Elsevier
Modifications of RNA, collectively called the" epitranscriptome", might provide novel
biomarkers and innovative targets for interventions in geroscience but are just beginning to …

Elongator and the role of its subcomplexes in human diseases

M Gaik, M Kojic, BJ Wainwright, S Glatt - EMBO Molecular Medicine, 2023 - embopress.org
The Elongator complex was initially identified in yeast, and a variety of distinct cellular
functions have been assigned to the complex. In the last decade, several research groups …

[HTML][HTML] Emerging functions of tRNA modifications in mRNA translation and diseases

L Wang, S Lin - Journal of Genetics and Genomics, 2023 - Elsevier
Abstract tRNAs are essential modulators that recognize mRNA codons and bridge amino
acids for mRNA translation. The tRNAs are heavily modified, which are essential for forming …