Phase separation as a missing mechanism for interpretation of disease mutations
It is unclear how disease mutations impact intrinsically disordered protein regions (IDRs),
which lack a stable folded structure. These mutations, while prevalent in disease, are …
which lack a stable folded structure. These mutations, while prevalent in disease, are …
Diverse molecular mechanisms underlying pathogenic protein mutations: beyond the loss-of-function paradigm
L Backwell, JA Marsh - Annual review of genomics and human …, 2022 - annualreviews.org
Most known disease-causing mutations occur in protein-coding regions of DNA. While some
of these involve a loss of protein function (eg, through premature stop codons or missense …
of these involve a loss of protein function (eg, through premature stop codons or missense …
Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure
Most known pathogenic mutations occur in protein-coding regions of DNA and change the
way proteins are made. Taking protein structure into account has therefore provided great …
way proteins are made. Taking protein structure into account has therefore provided great …
AlphaFold heralds a data-driven revolution in biology and medicine
AlphaFold heralds a data-driven revolution in biology and medicine | Nature Medicine Skip to
main content Thank you for visiting nature.com. You are using a browser version with limited …
main content Thank you for visiting nature.com. You are using a browser version with limited …
DDMut: predicting effects of mutations on protein stability using deep learning
Understanding the effects of mutations on protein stability is crucial for variant interpretation
and prioritisation, protein engineering, and biotechnology. Despite significant efforts …
and prioritisation, protein engineering, and biotechnology. Despite significant efforts …
ProThermDB: thermodynamic database for proteins and mutants revisited after 15 years
ProThermDB is an updated version of the thermodynamic database for proteins and mutants
(ProTherm), which has∼ 31 500 data on protein stability, an increase of 84% from the …
(ProTherm), which has∼ 31 500 data on protein stability, an increase of 84% from the …
Incomplete penetrance and variable expressivity: from clinical studies to population cohorts
R Kingdom, CF Wright - Frontiers in Genetics, 2022 - frontiersin.org
The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …
phenotypes, from no discernible clinical phenotype to severe disease, even among related …
The genetics of asthma and the promise of genomics-guided drug target discovery
Asthma is an inflammatory airway disease that is estimated to affect 339 million people
globally. The symptoms of about 5–10% of patients with asthma are not adequately …
globally. The symptoms of about 5–10% of patients with asthma are not adequately …
Genetic variation associated with condensate dysregulation in disease
A multitude of cellular processes involve biomolecular condensates, which has led to the
suggestion that diverse pathogenic mutations may dysregulate condensates. Although proof …
suggestion that diverse pathogenic mutations may dysregulate condensates. Although proof …
Folding and misfolding of human membrane proteins in health and disease: from single molecules to cellular proteostasis
Advances over the past 25 years have revealed much about how the structural properties of
membranes and associated proteins are linked to the thermodynamics and kinetics of …
membranes and associated proteins are linked to the thermodynamics and kinetics of …