The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye
The transcription factor PAX6 is essential in ocular development in vertebrates, being
considered the master regulator of the eye. During eye development, it is essential for the …
considered the master regulator of the eye. During eye development, it is essential for the …
Human transfer RNA modopathies: diseases caused by aberrations in transfer RNA modifications
T Chujo, K Tomizawa - The FEBS journal, 2021 - Wiley Online Library
tRNA molecules are post‐transcriptionally modified by tRNA modification enzymes.
Although composed of different chemistries, more than 40 types of human tRNA …
Although composed of different chemistries, more than 40 types of human tRNA …
Matching tRNA modifications in humans to their known and predicted enzymes
V de Crécy-Lagard, P Boccaletto… - Nucleic acids …, 2019 - academic.oup.com
Abstract tRNA are post-transcriptionally modified by chemical modifications that affect all
aspects of tRNA biology. An increasing number of mutations underlying human genetic …
aspects of tRNA biology. An increasing number of mutations underlying human genetic …
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype
Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common
neurodevelopmental disorders and are characterized by substantial impairment in …
neurodevelopmental disorders and are characterized by substantial impairment in …
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype
Abstract Background Neurodevelopmental disorders (NDDs) are heterogeneous,
debilitating conditions that include motor and cognitive disability and social deficits. The …
debilitating conditions that include motor and cognitive disability and social deficits. The …
Neural stem cells to cerebral cortex: emerging mechanisms regulating progenitor behavior and productivity
This review accompanies a 2016 SFN mini-symposium presenting examples of current
studies that address a central question: How do neural stem cells (NSCs) divide in different …
studies that address a central question: How do neural stem cells (NSCs) divide in different …
[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 …
biomarkers and innovative targets for interventions in geroscience but are just beginning to …
Elongator and codon bias regulate protein levels in mammalian peripheral neurons
Familial dysautonomia (FD) results from mutation in IKBKAP/ELP1, a gene encoding the
scaffolding protein for the Elongator complex. This highly conserved complex is required for …
scaffolding protein for the Elongator complex. This highly conserved complex is required for …
Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay
K Kobow, S Jabari, T Pieper, M Kudernatsch… - Acta …, 2020 - Springer
Polymicrogyria (PMG) is a developmental cortical malformation characterized by an excess
of small and frustrane gyration and abnormal cortical lamination. PMG frequently associates …
of small and frustrane gyration and abnormal cortical lamination. PMG frequently associates …
Functional divergence of the two Elongator subcomplexes during neurodevelopment
M Gaik, M Kojic, MR Stegeman… - EMBO Molecular …, 2022 - embopress.org
The highly conserved Elongator complex is a translational regulator that plays a critical role
in neurodevelopment, neurological diseases, and brain tumors. Numerous clinically relevant …
in neurodevelopment, neurological diseases, and brain tumors. Numerous clinically relevant …