Author

Erna Sól Sigmarsdóttir

University of CopenhagenORCID 0009-0007-5429-6483Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Biochemistry· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Approach:genetic perturbation / CRISPR· 1 Research Focus:protein folding & dynamics· 1 Assay:proteomics· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Isa K Henrichs· 2 shared Kresten Lindorff‐LarseniD· 2 shared Kristoffer E. JohanssoniD· 2 shared Rasmus Hartmann‐PeterseniD· 2 shared Vasileios VoutsinosiD· 2 shared Alissa Buhrmann· 1 shared Celeste Menuet HackneyiD· 1 shared Jonas DiderikseniD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetics

Isa K Henrichs

Mutual co-authors in cluster

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintFeb 9, 2026

Comprehensive Variant Effect Map of Parkin-Mediated Mitophagy in Parkinson's Disease

Erna Sól Sigmarsdóttir, Vasileios Voutsinos, Kristoffer E. Johansson…·Rasmus Hartmann‐Petersen

This paper maps the functional effects of Parkin variants in mitophagy, distinguishing pathogenic from benign variants with high accuracy.

1 citation

humanwhole-exome sequencing

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BiochemistrybioRxivPreprintFeb 4, 2026

BAG6 and RNF126 are broadly involved in protein quality control of non-native missense protein variants

Line Pedersen, Jonas Dideriksen, Kristoffer E. Johansson…·Rasmus Hartmann‐Petersen

The paper identifies BAG6 and RNF126 as key players in PQC degradation of non-native missense protein variants using CRISPR screens and VAMP-seq.

1 citation

humanproteomics

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