The first member and eponym of the rhodopsin family was identified in the 1930s as the
visual pigment of the rod photoreceptor cell in the animal retina. It was found to be a …

Protein mutagenesis is essential for unveiling the molecular mechanisms underlying protein
function in health, disease, and evolution. In the past decade, deep mutational scanning …

In-frame deletion mutations can result in disease. The impact of these mutations on protein
structure and subsequent functional changes remain understudied, partially due to the lack …

Over 100 mutations in the rhodopsin gene have been linked to a spectrum of retinopathies
that include retinitis pigmentosa and congenital stationary night blindness. Though most of …

Eukaryotic cells use G protein-coupled receptors (GPCRs) to convert external stimuli into
internal signals to elicit cellular responses. However, how mutations in GPCR-coding genes …

The correct expression of folded, functional rhodopsin (Rho) is critical for visual perception.
However, this seven-transmembrane helical G protein-coupled receptor is prone to …

Three proton-sensing G protein-coupled receptors (GPCRs), GPR4, GPR65, and GPR68,
respond to changes in extracellular pH to regulate diverse physiology and are implicated in …

Reduced protein stability is the most frequent mechanism by which rare missense variants
cause disease. A promising therapeutic avenue for treating destabilizing variants is …

Sequencing-based, massively parallel genetic assays have enabled simultaneous
characterization of the genotype–phenotype relationships for libraries encoding thousands …

Hsp90 is a crucial molecular chaperone that regulates proteostasis by facilitating the
refolding and activation of various signaling proteins. Its importance in protein folding and …