< Back to previous page

Project

Identifying novel aggregation-associated disease mutants.

Analysis of the VariBench dataset, an unbiased and representative dataset of variants, taught us that 34% of disease mutations could result in protein aggregation by being destabilizing (calculated by FoldX; ddG > 2) and occurring in a domain with a strong aggregating stretch (TANGO > 75). Applying this basic rule (ddG > 2 & TANGO > 75) suggests that protein aggregation could be a major disease modifier, not only in neurodegeneration and cancer, but also in metabolic diseases and infection sensitizing genes. To observe aggregation of these mutants, immunofluorescence co-staining of a protein-specific antibody and an aggregation marker, and analysis of the effect on the expression of Hsf-1 targets will be used.
Date:1 Jan 2014 →  31 Dec 2014
Keywords:Protein aggregation, Disease, TANGO, FoldX, Immunofluorescence
Disciplines:Laboratory medicine, Palliative care and end-of-life care, Regenerative medicine, Other basic sciences, Other health sciences, Nursing, Other paramedical sciences, Other translational sciences, Other medical and health sciences