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 …
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 …
Mega-scale experimental analysis of protein folding stability in biology and design
Advances in DNA sequencing and machine learning are providing insights into protein
sequences and structures on an enormous scale. However, the energetics driving folding …
sequences and structures on an enormous scale. However, the energetics driving folding …
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 …
[HTML][HTML] Can predicted protein 3D structures provide reliable insights into whether missense variants are disease associated?
S Ittisoponpisan, SA Islam, T Khanna, E Alhuzimi… - Journal of molecular …, 2019 - Elsevier
Abstract Knowledge of protein structure can be used to predict the phenotypic consequence
of a missense variant. Since structural coverage of the human proteome can be roughly …
of a missense variant. Since structural coverage of the human proteome can be roughly …
Mechanisms of SARS-CoV-2 evolution revealing vaccine-resistant mutations in Europe and America
The importance of understanding SARS-CoV-2 evolution cannot be overlooked. Recent
studies confirm that natural selection is the dominating mechanism of SARS-CoV-2 …
studies confirm that natural selection is the dominating mechanism of SARS-CoV-2 …
Multiplex assessment of protein variant abundance by massively parallel sequencing
KA Matreyek, LM Starita, JJ Stephany, B Martin… - Nature …, 2018 - nature.com
Determining the pathogenicity of genetic variants is a critical challenge, and functional
assessment is often the only option. Experimentally characterizing millions of possible …
assessment is often the only option. Experimentally characterizing millions of possible …
Variant interpretation: functional assays to the rescue
Classical genetic approaches for interpreting variants, such as case-control or co-
segregation studies, require finding many individuals with each variant. Because the …
segregation studies, require finding many individuals with each variant. Because the …
TopologyNet: Topology based deep convolutional and multi-task neural networks for biomolecular property predictions
Although deep learning approaches have had tremendous success in image, video and
audio processing, computer vision, and speech recognition, their applications to three …
audio processing, computer vision, and speech recognition, their applications to three …
Emerging vaccine-breakthrough SARS-CoV-2 variants
The surge of COVID-19 infections has been fueled by new SARS-CoV-2 variants, namely
Alpha, Beta, Gamma, Delta, and so forth. The molecular mechanism underlying such surge …
Alpha, Beta, Gamma, Delta, and so forth. The molecular mechanism underlying such surge …