Avanti Gokhale

This paper identifies a novel mechanism by which manganese disrupts mitochondrial transcriptome processing, leading to dsRNA accumulation and neuroinflammation through MDA5 activation.

The paper compares the effects of copper deficiency in CTR1- and COX17-deficient cells using multiomics approaches, revealing distinct signaling mechanisms and proteome responses.

The paper identifies haploinsufficient genes MRPL40 and SLC25A1 in the 22q11.2 locus and shows their genetic interactions contribute to cardiac and brain phenotypes in mice.

The paper identifies cross-species biomarkers and mechanisms in Rett Syndrome using gene therapy and multi-omic analysis in mice.

The paper investigates how neuronal cells adapt to copper deficiency by increasing protein synthesis through mTORC1 activation and reduced PERK signaling in multiple model systems.

The paper identifies systemic proteome and transcriptome changes in Mecp2 mutants, revealing impaired metabolic flexibility across multiple organs and brain regions.

The paper shows that mitochondrial proteostasis genes in a neurodevelopmental syndrome locus are essential for synapse function and behavior in Drosophila.

This study shows that Golgi-dependent copper homeostasis, mediated by ATP7 and COG, is essential for maintaining mitochondrial function and synaptic integrity in neurons.

The paper identifies a mitochondrial transporter interactome disruption in 22q11.2 syndrome, linking it to synapse function and behavior.