Article

Functional Assessment of Protein Variants in Structured Domains by Fluorescence Cross-Correlation Spectroscopy

2024-05-23

Abstract excerpt

<h4>ABSTRACT</h4> With the expanding catalogue of novel disease-genes, there is an increasing need to establish the significance of potential disease-causing variants. Based on the idea that pathogenic variants in structured protein domains disturb folding and association with macromolecular assemblies, we employed Fluorescence Correlation and Cross-Correlation Spectroscopy (FCS and FCCS) to assess in vivo protein...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c9ac08e0-98eb-562d-a137-1fb9bee67f19
DOI: 10.1101/2024.05.23.24307779

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Functional Assessment of Protein Variants in Structured Domains by Fluorescence Cross-Correlation SpectroscopyDOI 10.1101/2024.05.23.24307779Read

Functional assessment of protein variants in structured domains by fluorescence cross-correlation spectroscopy.Semantic proximity Read

Machine learning of three-dimensional protein structures to predict the functional impacts of genome variationSemantic proximity Read

Functional analysis of BRCA1 RING domain variants: computationally derived structural data can improve upon experimental features for training predictive models.Semantic proximity Read

Inherited CDA-I disease: anemia-associated mutations disrupt CDIN1-Codanin1 complexSemantic proximity Read

Differential Remodeling of the BRCA1 Interactome by a Unique Minimal Clinical Truncation MutationSemantic proximity Read

Machine Learning of Three-Dimensional Protein Structures to Predict the Functional Impacts of Genome Variation.Semantic proximity Read

Phosphorylation-Dependent Activation of the XRCC1 Intrinsically Disordered Region: A Computational Structural AnalysisSemantic proximity Read

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.Semantic proximity Read

Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del.Semantic proximity Read

Variant of uncertain significance Arg866Cys enhances disorderedness of h-BRCA1 (759-1064) region.Semantic proximity Read

Insights into Fanconi Anaemia from the structure of human FANCE.Semantic proximity Read

Interrogation of the protein-protein interactions between human BRCA2 BRC repeats and RAD51 reveals atomistic determinants of affinity.Semantic proximity Read