Errors introduced by DNA polymerase ε (POLE) during DNA replication contribute significantly to the occurrence of C-to-T mutations at methylated CpG dinucleotides. A study published in Nature [...]
Centromeric protein A, known as CENPA, interacts with epigenetically altered centromeric RNA, thereby facilitating the division of cancer cells. This finding is reported in a recent study [...]
DNA methyltransferase DAMT-1 catalyzes in C. elegans a specific form of epigenetic mark, adenosine N6-methylation (6mA), on mitochondrial DNA (mtDNA). Impaired regulation of this modification [...]
Using the method of saturation genome editing (SGE), researchers have assessed the functional impact of 99% of all possible single nucleotide variants in the coding sequence of the BAP1 gene. SGE [...]
Researchers pharmacologically reactivated transcription of the TERT gene and produced a rejuvenating effect in multiple tissues in mice. In a study published in Cell, the authors used a [...]
A CRISPR/Cas9-based approach to treat CEP290-associated inherited retinal degeneration has for the first time produced positive results in a phase 1/2 study. Twelve adults and two children with a [...]
A novel gene therapy approach using antisense oligonucleotides to modulate the production of specific isoforms of CACNA1C might provide a new strategy to treat a severe neurodevelopmental [...]
A gene therapy approach involving transfer of the GAN gene into nerve cells is presently being investigated as a potential option for addressing a rare neurodegenerative condition in children. [...]
KDM5C plays a pivotal role in the complex process of neuron formation. A study published in Nature now shows that KDM5C acts in a specific developmental window directly on WNT signaling and thus [...]
A postzygotic variant in FGFR2 has been identified as the cause of a mosaic neurocutaneous disorder. Researchers at the Institute of Human Genetics Göttingen uncovered the variant as the [...]
