Author

Aneesh G. Patankar

Johns Hopkins UniversityORCID 0000-0003-3003-3930Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:differential expression· 1 Assay:long-read sequencing· 1 Organism:mouse· 1

Frequent Co-Authors

Aayush PokhareliD· 1 shared Adam Comer· 1 shared Adnan Yousaf Manzur· 1 shared Aileen Reghan FoleyiD· 1 shared Akshata A. Almad· 1 shared Alayne P. MeyeriD· 1 shared Andrew D. NguyeniD· 1 shared Anna SárközyiD· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperNeuroscience

Aayush PokharelORCID

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2 papers

Recent·Most cited

A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide

Sarah Silverstein, Andrew D. Nguyen, Rotem Orbach, Sandra C. Donkervoort, Thomas A. Cassini, Mary E. Koziura, Véronique Bolduc, Audrey M. Winkelsas, Ester Masati, Shreya Nandi, George G. Harmison, BE Johnson, Kory Johnson, Sarah E. Kargbo-Hill, Jason J. Bussgang, , Christopher Grunseich

This study identifies deep intronic IGHMBP2 variants causing SMARD1 and CMT2S, showing they activate a shared cryptic splice donor, enabling correction with a single antisense oligonucleotide in patient-derived motor neurons.

medRxiv · Apr 29, 2026 · PreprintGenetic & Genomic Medicine

Connexin 43 hemichannels mediate spatial and temporal disease spread in ALS

Akshata A. Almad, Arens Taga, Jessica Joseph, Connor Welsh, Aneesh G. Patankar, Sarah K. Gross, Jean‐Philippe Richard, Aayush Pokharel, Mauricio A. Lillo, Raha Maryam Dastgheyb, Kevin C. Eggan, Norman J. Haughey, Jorge E. Contreras, Nicholas John Maragakis

This study shows that Cx43 hemichannels in astrocytes contribute to ALS progression and that blocking them can protect neurons and improve survival in ALS models.

bioRxiv · Mar 14, 2020 · PreprintNeuroscience