J. P. Schlebach

Ribosomal Frameshifting Selectively Modulates the Assembly, Function, and Pharmacological Rescue of a Misfolded CFTR Variant

This paper identifies an RNA structure in the CFTR transcript that promotes ribosomal frameshifting and premature termination, enhancing the function and pharmacological rescue of the misfolded {Delta}F508 CFTR variant.

Divergent Folding-Mediated Epistasis Among Unstable Membrane Protein Variants

The paper examines how mutations in unstable membrane proteins like GnRHR form distinct epistatic interactions depending on their destabilizing mechanisms and severity.

Elucidation of Global Trends in the Effects of VX-661 and VX-445 on the Expression of Clinical CFTR Variants

This study compares the effects of VX-661 and VX-445 on 129 CFTR variants using deep mutational scanning, finding distinct patterns of expression rescue based on variant destabilization and binding pocket locations.

Chromenone derivatives as novel pharmacological chaperones for retinitis pigmentosa-linked rod opsin mutants

This study identifies a chromenone derivative that stabilizes rod opsin mutants, rescues membrane trafficking in vitro, and protects photoreceptors in vivo in RP models.

Molecular Basis for Variations in the Sensitivity of Pathogenic Rhodopsin Variants to 9-cis-Retinal

This study uses deep mutational scanning to analyze how 123 pathogenic rhodopsin variants respond to 9-cis-retinal, identifying variants with diminished membrane expression and varying sensitivity to retinal.

Towards Generalizable Predictions for the Effects of Mutations on G-Protein Coupled Receptor Expression

This paper trains neural networks to predict how mutations affect plasma membrane expression of GPCRs, showing structural features alone can generalize across related proteins.

Systematic Profiling of Temperature- and Retinal-Sensitive Rhodopsin Variants by Deep Mutational Scanning

This study uses deep mutational scanning to analyze how temperature and retinal affect plasma membrane expression of rhodopsin variants, revealing correlations between mutation sites and sensitivity to these factors.

Coordination of -1 Programmed Ribosomal Frameshifting by Transcript and Nascent Chain Features Revealed by Deep Mutational Scanning

The paper uses deep mutational scanning to analyze how mutations affect -1PRF in alphavirus polyproteins, revealing coordination between transcript and nascent chain features.

Disease-Linked Super-Trafficking of a Mutant Potassium Channel

The paper investigates whether gain-of-function mutations in KCNQ1 cause super-trafficking of the potassium channel to the plasma membrane, finding increased surface levels and altered channel activity.

Cotranslational Folding Stimulates Programmed Ribosomal Frameshifting in the Alphavirus Structural Polyprotein

This study shows that cotranslational folding of a nascent polypeptide chain can stimulate programmed ribosomal frameshifting in the Sindbis virus structural polyprotein.

Molecular Basis for the Evolved Instability of a Human G-Protein Coupled Receptor

The paper identifies a C-terminal truncation and increased TM domain polarity in GnRHR as evolutionary adaptations that reduce receptor stability and activity.