Rasmus Hartmann‐Petersen

PolyA/polyQ-mediated conformational rewiring regulates DNA engagement and drives aggregation in the neuronal transcription factor Ascl1

This study shows that the polyA/polyQ tract in Ascl1 regulates DNA engagement and aggregation through conformational changes, affecting solubility and cellular abundance.

Proteome analyses reveal Endoplasmic Reticulum stress-induced changes in protein abundance associated with Ube2j2 deficiency in human cell culture

The paper uses mass spectrometry to analyze how Ube2j2 deficiency affects the proteome under ER stress in human cells, identifying new pathways and functions associated with Ube2j2.

Blocking protein quality control degradation leads to structural stabilization of DHFR indel variants

The paper shows that blocking protein quality control degradation stabilizes DHFR indel variants, suggesting a therapeutic approach for protein misfolding diseases.

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

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

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

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

Mapping the GCK-GKRP interaction landscape using deep mutational scanning by reverse two-hybrid screening

The paper characterizes GCK variants' effects on GKRP interaction using deep mutational scanning, identifying variants that specifically perturb interactions and reveal allosteric effects.

The importance of UBQLN2 ubiquitylation for its turnover and localization

This study shows that ubiquitylation of UBQLN2's UBL domain regulates its stability and localization, with implications for proteasomal degradation and ALS.

A highly stable engineered disulfide bond in the dimer interface of E. coli orotate phosphoribosyl transferase measures cytosolic redox conditions in yeast

The paper introduces a stable disulfide bond in E. coli OPRT to measure cytosolic redox potential in yeast, finding it to be -300 mV with enhanced stability in glutathione reductase mutants.

Comprehensive degron mapping in human transcription factors

This study maps degrons in human transcription factors, identifies new degrons, and links degron potency to variant effects and transcriptional activation.

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

The paper systematically identifies degrons in human cytosolic proteins and links them to disease mechanisms through machine learning and structural analysis.

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

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.

Deep mutational scanning reveals a tight correlation between protein degradation and toxicity of thousands of non-native aspartoacylase protein variants

The paper uses deep mutational scanning to show that protein degradation and toxicity are tightly correlated in ASPA variants linked to Canavans disease.

A comprehensive map of human glucokinase variant activity

This study maps human glucokinase variant activity using a yeast complementation assay, identifying activity patterns linked to disease and providing insights for variant interpretation and therapeutic development.

Prediction of quality-control degradation signals in yeast proteins

The paper develops QCDPred, a predictor of quality-control degrons in yeast proteins, showing that degrons are enriched in hydrophobic amino acids and depleted in negatively charged ones.

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

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

Mutations in a single signaling pathway allow growth on a different solvent than water

This study investigates the effects of replacing water with heavy water (D2O) on fission yeast, revealing pleiotropic effects and highlighting the cell integrity pathway's role in D2O tolerance.