Author

Peter F. Kosa

National Institutes of HealthORCID 0000-0002-1392-0629Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:proteomics· 1 Assay:spatial transcriptomics· 1

Frequent Co-Authors

Audrey E. ThurmiD· 1 shared Benjamin H. SchwarziD· 1 shared Bibiana BielekovaiD· 1 shared Cathryn L. HaighiD· 1 shared Clayton W. WinkleriD· 1 shared Cole D. KimzeyiD· 1 shared Eric BohrnseniD· 1 shared Farzana BhuyaniD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperNeuroscience

Audrey E. ThurmORCID

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1 paper

Recent·Most cited

Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis

Clayton W. Winkler, Benjamin H. Schwarz, Katie Williams, Sara Alehashemi, Simote Totauhelotu Foliaki, Joseph Snow, Lisa A. Joseph, Audrey E. Thurm, Kip Friend, Gwendolyn Cooper, Eric Bohrnsen, Farzana Bhuyan, Nathan T. Brandes, Ruin Moaddel, Manfred Boehm, , Karin E. Peterson

This study shows that proteasome mutations in CANDLE syndrome disrupt neuronal development by increasing polyamine levels through ODC dysregulation, and inhibiting ODC can reverse these effects.

Journal of Clinical Investigation · Aug 4, 2026Peer-reviewedNeuroscience