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Studer, R.

Publications and source records attributed to Studer, R..

2 recordsLinked to original sources

The functional landscape of the human ubiquitinome

Protein ubiquitination regulates cell biology through diverse avenues, from quality control-linked protein degradation to signaling functions such as modulating protein-protein interactions and enzyme activation. To date, hundreds of thousands of ubiquitination sites (ubi-sites) have been identified, however fewer than 1% have known functional roles. Here, we assembled a human reference ubiquitinome of 108,341 ubi-sites by harmonizing public proteomics data. To pinpoint critical regulatory events requiring ubiquitination at a precise site, we mapped ubi-site conservation across proteomics data from six non-human species. Perturbation proteomics revealed that highly conserved ubi-sites are more likely to regulate signaling functions rather than proteasomal degradation. To further prioritize site-specific ubiquitination relevant for organismal fitness, we constructed a machine learning-based positional importance score for more than 100,000 ubi-sites, which identifies sites regulating diverse protein functions and rationalizes genetic vulnerabilities. Finally, we employed chemical genomics to validate the functional relevance of high-scoring ubi-sites and leveraged genetic code expansion to demonstrate that ubiquitination of K320 in the RNA-regulator ELAVL1 disrupts RNA binding. Our work reveals systems-level principles of the ubiquitinome and provides a powerful resource for studying site-specific protein ubiquitination.

cell biology↗

A Novel, Uniquely Efficacious Type of CFTR Corrector with Complementary Mode of Action

Three distinct pharmacological corrector types (I, II, III) with different binding sites and additive behaviour only partially rescue the F508del-CFTR folding and trafficking defect observed in cystic fibrosis. Here, we describe novel, uniquely effective, macrocyclic CFTR correctors that were additive to the known corrector types, thus exerting a new, complementary "type-IV" corrector mechanism. Macrocycles achieved wildtype-like folding efficiency of F508del-CFTR at the endoplasmic reticulum and normalized CFTR currents in reconstituted patient-derived bronchial epithelium. Using photo-activatable macrocycles, docking studies and site-directed mutagenesis a highly probable binding site and pose for type-IV correctors was identified in a cavity between lasso helix-1 (Lh1) and transmembrane helix-1 of membrane spanning domain-1 (MSD1), distinct from the known corrector binding sites. Since only F508del-CFTR fragments spanning from Lh1 until MSD2 responded to type-IV correctors, these likely promote co-translational assembly of Lh1, MSD1, and MSD2. Remarkably, previously corrector-resistant CFTR folding mutations were also robustly rescued, suggesting substantial therapeutic potential for this novel type-IV corrector mechanism. TeaserA novel type of macrocyclic CFTR corrector with new binding site, complementary mode of action and unique folding / trafficking efficacy is described.

pharmacology and toxicology↗