Author

S. Edvardson

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Biochemistry· 1 Pathology· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:chromatin & epigenetic regulation· 2 Approach:experimental assay· 2 Organism:human· 2 Research Focus:cell type annotation· 1 Research Focus:development & morphogenesis· 1 Assay:DNA methylation· 1 Assay:proteomics· 1 Assay:structural biology· 1

Frequent Co-Authors

O. Elpeleg· 2 shared A. G. O'Neill· 1 shared A. Kusnierczyk· 1 shared A. L. Burrell· 1 shared A. L. Rippert· 1 shared A. Lang· 1 shared B. Abu-Libdeh· 1 shared B. Van Loon· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersBiochemistry

O. Elpeleg

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure

A. G. O'Neill, A. L. Burrell, M. Zech, O. Elpeleg, T. Harel, S. Edvardson, H. M. Shaked, A. L. Rippert, T. Nomakuchi, K. Izumi, J. M. Kollman

The paper identifies two new IMPDH2 mutations linked to neurodevelopmental disorders and shows they disrupt GTP regulation and enzyme function through structural and functional analysis.

bioRxiv · Mar 15, 2023Biochemistry

Loss-of-function mutation in human Oxidation Resistance gene 1 disrupts the spatial-temporal regulation of histone arginine methylation in early brain development

X. Lin, W. Wang, M. Yang, N. Damseh, M. M. L. d. Sousa, F. Jacob, A. Lang, E. Kristiansen, M. Pannone, M. Kissova, R. Almaas, A. Kusnierczyk, R. Siller, M. Shahrour, M. Al-Ashhab, , M. Bjoras

This study identifies a loss-of-function mutation in OXR1 causing neurodevelopmental disorders and shows its role in regulating histone arginine methylation in brain organoids.

bioRxiv · May 24, 2022 · PreprintPathology