Publications by authors named "Madison Chilian"
Article Synopsis
- * Researchers used advanced techniques like exome sequencing and functional analysis to identify three novel homozygous variants in the OGDH gene, which is crucial for energy metabolism.
- * The findings suggest that these variants disrupt the normal function of the OGDH protein, leading to the observed neurodevelopmental disorder characterized by metabolic and movement abnormalities.
In this protocol, we take CRISPR/Cas9 and Gal4/UAS approaches to achieve tissue-specific knockout in parallel with rescue of the knockout by cDNA expression in . We demonstrate that guide RNAs targeting the exon-intron junction of target genes cleave the genomic locus of the genes, but not transgenes, in a tissue where Gal4 drives Cas9 expression. The efficiency of this approach enables the determination of pathogenicity of disease-associated variants in human genes in a tissue-specific manner in .
View Article and Find Full Text PDF