Monica Salani

CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling

The paper investigates how POGZ loss-of-function affects transcription factor binding and gene expression in neurons, revealing shared molecular changes with other NDD-related genes.

Aberrant recursive splicing in a human disease locus

The paper investigates the functional role of recursive splicing in CADM2, showing that its deletion leads to altered gene expression and behavioral changes in neurodevelopmental disorders.

Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly

This paper resolves ring chromosomes, Robertsonian translocations, and complex structural variants using long-read sequencing and telomere-to-telomere assembly, revealing breakpoint structures and methylation changes.

Post-transcriptional RNA stabilization of telomere-proximal RNAs FRG2, DBET, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length.

The paper investigates how D4Z4 repeat length and genotoxic stress affect RNA stability and chromatin association of genes at the 4q35 locus.

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.

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.

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

The paper investigates the effects of MEF2C mutations and chromatin structural variants on transcriptional and functional outcomes in neuronal models, revealing differential impacts based on mutation type and chromatin topology.

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.

MCOLN1 gene-replacement therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV.

This study demonstrates that AAV-mediated MCOLN1 gene transfer improves motor function and reduces brain pathology in a mouse model of mucolipidosis IV.

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.