Author

Aram J. Krauson

Massachusetts General HospitalORCID 0000-0001-7948-5730Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Developmental Biology· 1 Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:mouse· 3 Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Approach:experimental assay· 2 Approach:deep learning· 1 Research Focus:drug response / drug discovery· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Anil K. ChekuriiD· 4 shared Elisabetta MoriniiD· 4 shared Emily M. Logan· 4 shared Monica Salani· 4 shared Susan Slaugenhaupt· 3 shared Amal Dakka· 2 shared Ashok RagavendraniD· 2 shared Dadi GaoiD· 2 shared

Activity by Year

2020-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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4 shared papersGenetics

Anil K. ChekuriORCID

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Author profile →

4 papers

Recent·Most cited

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

Elisabetta Morini, Anil K. Chekuri, Emily M. Logan, Jessica Bolduc, Emily G. Kirchner, Monica Salani, Aram J. Krauson, Jana Narasimhan, Vijayalakshmi Gabbeta, Shivani Grover, Amal Dakka, Anna Mollin, Stephen P. Jung, Xin Zhao, Nanjing Zhang, , Susan Slaugenhaupt

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

The American Journal of Human Genetics · Feb 20, 2023Peer-reviewedGenetics

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

Anil K. Chekuri, Emily M. Logan, Aram J. Krauson, Monica Salani, Sophie Ackerman, Emily G. Kirchner, Jessica Bolduc, Xia Wang, Paula Dietrich, Ioannis Dragatsis, Luk H. Vandenberghe, Susan Slaugenhaupt, Elisabetta Morini

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.

Human Molecular Genetics · Dec 13, 2021Peer-reviewedNeuroscience

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

Elisabetta Morini, Dadi Gao, Emily M. Logan, Monica Salani, Aram J. Krauson, Anil K. Chekuri, Yei‐Tsung Chen, Ashok Ragavendran, Probir Chakravarty, Serkan Erdin, Alexei Stortchevoi, Jesper Qualmann Svejstrup, Michael E. Talkowski, Susan Slaugenhaupt

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.

Journal of genetics and genomics/Journal of Genetics and Genomics · Dec 9, 2021Peer-reviewedDevelopmental Biology

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

Dadi Gao, Elisabetta Morini, Monica Salani, Aram J. Krauson, Ashok Ragavendran, Serkan Erdin, Emily M. Logan, Anil K. Chekuri, Wencheng Li, Amal Dakka, Nikolai A. Naryshkin, Christopher R. Trotta, Kerstin A. Effenberger, Matthew G. Woll, Vijayalakshmi Gabbeta, , Susan A. Slaugenhaupt

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

bioRxiv · Feb 3, 2020 · PreprintBioinformatics