ArticlePacific Symposium on Biocomputing. Pacific Symposium on Biocomputing2010
Loss of post-translational modification sites in disease.
Article in Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
46 citing papers in PubMed.
- The molecular consequences of FOXF1 missense mutations associated with alveolar capillary dysplasia with misalignment of pulmonary veins.Journal of biomedical science · 2024Article
- Acetylation of PGK1 at lysine 323 promotes glycolysis, cell proliferation, and metastasis in luminal A breast cancer cells.BMC cancer · 2024Article
- Cargo exchange between human and bacterial extracellular vesicles in gestational tissues: a new paradigm in communication and immune development.Extracellular vesicles and circulating nucleic acids · 2024Review
- Understanding the impact of structural modifications at the NNAT gene's post-translational acetylation site: in silico approach for predicting its drug-interaction role in anorexia nervosa.Eating and weight disorders : EWD · 2023Article
- An In Silico Functional Analysis of Non-Synonymous Single-Nucleotide Polymorphisms of BovinePathogens (Basel, Switzerland) · 2023Article
- Human phospho-signaling networks of SARS-CoV-2 infection are rewired by population genetic variants.Molecular systems biology · 2022Article
- Computational and experimental methods for classifying variants of unknown clinical significance.Cold Spring Harbor molecular case studies · 2022Article
- Structural and functional insights into lysine acetylation of cytochrome c using mimetic point mutants.FEBS open bio · 2021Article
- The Role of BMP Signaling in Endothelial Heterogeneity.Frontiers in cell and developmental biology · 2021Review
- ActiveDriverDB: Interpreting Genetic Variation in Human and Cancer Genomes Using Post-translational Modification Sites and Signaling Networks (2021 Update).Frontiers in cell and developmental biology · 2021Article
- Article
- Bigram-PGK: phosphoglycerylation prediction using the technique of bigram probabilities of position specific scoring matrix.BMC molecular and cell biology · 2019Article
- Glycoproteogenomics: A Frequent Gene Polymorphism Affects the Glycosylation Pattern of the Human Serum Fetuin/α-2-HS-Glycoprotein.Molecular & cellular proteomics : MCP · 2019Article
- Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.PLoS computational biology · 2019Article
- TPR-containing proteins control protein organization and homeostasis for the endoplasmic reticulum.Critical reviews in biochemistry and molecular biology · 2019Review
- PhoglyStruct: Prediction of phosphoglycerylated lysine residues using structural properties of amino acids.Scientific reports · 2018Article
- Loss and gain of N-linked glycosylation sequons due to single-nucleotide variation in cancer.Scientific reports · 2018Article
- ActiveDriverDB: human disease mutations and genome variation in post-translational modification sites of proteins.Nucleic acids research · 2018Article
- Deficient O-GlcNAc Glycosylation Impairs Regulatory T Cell Differentiation and Notch Signaling in Autoimmune Hepatitis.Frontiers in immunology · 2018Article
- Pan-Cancer Analysis Reveals the Functional Importance of Protein Lysine Modification in Cancer Development.Frontiers in genetics · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Understanding and predicting molecular cause of disease is one of the major challenges for biology and medicine. One particular area of interest continues to be computational analyses of disease-associated amino acid substitutions. To this end, various studies have been performed to identify molecular functions disrupted by disease-causing mutations. Here, we investigate the influence of disease-associated mutations on post-translational modifications. In particular, we study the loss of modification target sites as a consequence of disease mutation. We find that about 5% of disease-associated mutations may affect known modification sites, either partially (4%) of fully (1%), compared to about 2% of putatively neutral polymorphisms. Most of the fifteen post-translational modification types analyzed were found to be disrupted at levels higher than expected by chance. Molecular functions and physiochemical properties at sites of disease mutation were also compared to those of neutral polymorphisms involved in the process of post-translational modification site disruption. Disease-associated mutations in the neighborhood of post-translationally modified sites were found to be enriched in mutations that change polarity, charge, and hydrophobicity of the wild-type amino acids. Overall, these results further suggest that disruption of modification sites is an important but not the major cause of human genetic disease.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.