Mechanistic Disruption of the TREM2-DAP12 Transmembrane Complex by Alzheimer's Disease Mutations: A Multiscale Simulation Study.
Sign Up to like & getrecommendations! Published in 2025 at "Journal of chemical information and modeling"
DOI: 10.1021/acs.jcim.5c01891
Abstract: Triggering receptor expressed on myeloid cell 2 (TREM2) is an immunomodulatory receptor that plays a critical role in microglial activation through its association with the adaptor protein DNAX-activation protein 12 (DAP12). Variants in TREM2 have… read more here.
Keywords: alzheimer disease; disease; transmembrane; trem2 dap12 ... See more keywords
Comprehensive characterization of protein-protein interactions perturbed by disease mutations.
Sign Up to like & getrecommendations! Published in 2021 at "Nature genetics"
DOI: 10.1038/s41588-020-00774-y
Abstract: Technological and computational advances in genomics and interactomics have made it possible to identify how disease mutations perturb protein-protein interaction (PPI) networks within human cells. Here, we show that disease-associated germline variants are significantly enriched… read more here.
Keywords: protein; protein interactions; protein protein; comprehensive characterization ... See more keywords
Distinct Interaction Modes for the Eukaryotic RNA Polymerase Alpha-like Subunits.
Sign Up to like & getrecommendations! Published in 2023 at "Molecular and cellular biology"
DOI: 10.1080/10985549.2023.2210023
Abstract: Abstract Eukaryotic DNA-dependent RNA polymerases (Pols I–III) encode two distinct alpha-like heterodimers where one is shared between Pols I and III, and the other is unique to Pol II. Human alpha-like subunit mutations are associated… read more here.
Keywords: polymerase; alpha like; disease mutations; yeast ... See more keywords
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer’s disease
Sign Up to like & getrecommendations! Published in 2025 at "Molecular Neurodegeneration"
DOI: 10.1186/s13024-025-00907-z
Abstract: Protein truncating variants (PTVs) in SORL1 are observed almost exclusively in Alzheimer’s Disease (AD) cases, but the effect of rare SORL1 missense variants is unclear. To identify high-priority missense variants (HPVs), we applied ‘domain mapping… read more here.
Keywords: alzheimer disease; disease; disease mutations; sorl1 ... See more keywords
The population genetics of human disease: The case of recessive, lethal mutations
Sign Up to like & getrecommendations! Published in 2017 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1006915
Abstract: Do the frequencies of disease mutations in human populations reflect a simple balance between mutation and purifying selection? What other factors shape the prevalence of disease mutations? To begin to answer these questions, we focused… read more here.
Keywords: genetics; disease; selection; recessive lethal ... See more keywords