Anil K. Chekuri

ELP1 Gene Augmentation Restores Visual Function in a Mouse Model of Familial Dysautonomia

This study shows that gene supplementation with ELP1 in a mouse model of familial dysautonomia rescues retinal structure and function, suggesting it as a potential therapy for FD-associated optic neuropathy.

AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in a mouse model of familial dysautonomia.

This study uses AAV2-delivered exon-specific U1 snRNA to correct ELP1 splicing and rescue optic neuropathy in a FD mouse model.

Multi-omic analysis of photoreceptor alterations during early-onset retinal degeneration in Mfrp-/- mice

This study uses multi-omic analysis to identify transcriptional and spatial changes in Mfrp-/- mice, revealing photoreceptor loss and gene regulatory disruptions during retinal degeneration.

Engineered CRISPR-Base Editors as a Permanent Treatment for Familial Dysautonomia

This paper develops a CRISPR base editing strategy to correct the FD-causing mutation in human cells and mice, achieving up to 70% on-target correction and functional restoration.

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.

This study uses transcriptome analysis in a humanized mouse model of FD to identify tissue-specific gene expression disruptions in the peripheral nervous system.

A blood-brain-barrier penetrant AAV gene therapy rescues neurological deficits in mucolipidosis IV mice.

Development of a novel oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia.

This paper develops an oral treatment, PTC258, that restores ELP1 splicing and improves symptoms in a mouse model of familial dysautonomia.

Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia

This study characterizes retinal degeneration in a humanized mouse model of familial dysautonomia and shows that the splicing modulator BPN-15477 can correct the ELP1 splicing defect in the retina.

Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.

This study investigates the role of ELP1 in neuronal development by analyzing transcriptomes of mouse embryos with varying ELP1 levels, finding that ELP1 regulates gene expression and neuronal development.

A deep learning approach to identify new gene targets of a novel therapeutic for human splicing disorders

The paper uses deep learning to identify new gene targets for a splicing modulator drug, validating predictions with in vitro assays.