Author

Sofie Vincents Nielsen

University of CopenhagenORCID 0000-0003-0377-9649Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:experimental assay· 2 Research Focus:variant effect prediction· 2 Approach:deep learning· 1 Research Focus:drug response / drug discovery· 1 Organism:human· 1 Research Focus:protein design· 1 Research Focus:protein folding & dynamics· 1 Assay:protein structure· 1

Frequent Co-Authors

Amelie SteiniD· 2 shared Kresten Lindorff‐LarseniD· 2 shared Rasmus Hartmann‐PeterseniD· 2 shared Aitana Victoria Genzor· 1 shared Aleksandra PanfilovaiD· 1 shared Caroline Hill SuhriD· 1 shared Cecilie L. SøltoftiD· 1 shared Heleen Lanters· 1 shared

Activity by Year

2020-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 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

Amelie SteinORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

BiochemistryStructurePeer-reviewedDec 19, 2024

Systematic characterization of indel variants using a yeast-based protein folding sensor

Sven Larsen-Ledet, Søren Lindemose, Aleksandra Panfilova…·Rasmus Hartmann‐Petersen

The paper develops a yeast-based protein folding sensor to study indel variants, finding that most tolerated indels occur in specific regions and that computational tools can predict their effects.

2 citations

yeastprotein structure

𝕏 PostBluesky

Molecular BiologyPLoS GeneticsPeer-reviewedNov 2, 2020

Folliculin variants linked to Birt-Hogg-Dube syndrome are targeted for proteasomal degradation

Lene Clausen, Amelie Stein, Martin Grønbæk-Thygesen…·Rasmus Hartmann‐Petersen

The paper shows that BHD-linked FLCN variants cause loss of function via proteasomal degradation and misfolding, with potential therapeutic implications for stabilization.

33 citations

humanproteomics

𝕏 PostBluesky