Happy to share our newest preprint on Parkin missense variants in work led by Erna Sol & @vvouts.bsky.social in @rhp-lab.bsky.social Using a multiplexed assay we determined the effects of 9,212 out of 9,300 single amino acid substitutions and nonsense Parkin variants. 1/n doi.org/10.64898/202...

bioRxiv Genetics@biorxiv-genetic.bsky.social · 6mo ago

Comprehensive Variant Effect Map of Parkin-Mediated Mitophagy in Parkinson's Disease https://www.biorxiv.org/content/10.64898/2026.02.09.704749v1

We map the effects of >99% Parkin (PRKN) missense variants on mitophagy. The landscape separates benign & pathogenic variants, reveals misfolded variants induce mitophagy and flags hypomorphic alleles for rescue. Collab w. @lindorfflarsen.bsky.social. Work led by Erna Sol & @vvouts.bsky.social.

bioRxiv Genetics@biorxiv-genetic.bsky.social · 6mo ago

Comprehensive Variant Effect Map of Parkin-Mediated Mitophagy in Parkinson's Disease https://www.biorxiv.org/content/10.64898/2026.02.09.704749v1

Comprehensive Variant Effect Map of Parkin-Mediated Mitophagy in Parkinson's Disease https://www.biorxiv.org/content/10.64898/2026.02.09.704749v1

A near-complete map of human cytosolic degrons and their relevance for disease We measured degron potency of >200,000 30-residue tiles from >5,000 human proteins, and trained a model to predict degrons from sequence Led by @vvouts.bsky.social in @rhp-lab.bsky.social doi.org/10.1126/scia...

Led by @vvouts.bsky.social in @rhp-lab.bsky.social, we measured the degron potency of >200,000 30-residue tiles from >5,000 cytosolic human proteins and trained an ML model for degrons 📜 www.biorxiv.org/content/10.1... 🖥️ github.com/KULL-Centre/...

Rasmus Hartmann-Petersen@rhp-lab.bsky.social · last yr.

In collaboration with the @lindorfflarsen.bsky.social group we release our map of degrons in >5,000 human cytosolic proteins with >99% coverage. A machine learning model trained on the data identifies missense variants forming degrons in exposed & disordered regions. Work led by @vvouts.bsky.social.

In collaboration with the @lindorfflarsen.bsky.social group we release our map of degrons in >5,000 human cytosolic proteins with >99% coverage. A machine learning model trained on the data identifies missense variants forming degrons in exposed & disordered regions. Work led by @vvouts.bsky.social.

A complete map of human cytosolic degrons and their relevance for disease

Degrons are short protein segments that target proteins for degradation via the ubiquitin-proteasome system and thus ensure timely removal of signaling proteins and clearance of misfolded proteins fro...

biorxiv.org

In our newest preprint we map degrons for >5,000 cytosolic proteins and we develop a degron predictor that can predict novel degron formation, a potential mechanism of pathogenicity. Many thanks to @rhp-lab.bsky.social, @lindorfflarsen.bsky.social and @dougfowler.bsky.social for their supervision.

A complete map of human cytosolic degrons and their relevance for disease

Degrons are short protein segments that target proteins for degradation via the ubiquitin-proteasome system and thus ensure timely removal of signaling proteins and clearance of misfolded proteins fro...

biorxiv.org