H3.3K27M mutant proteins reprogram epigenome by sequestering the PRC2 complex to poised enhancers. [PDF]
Elife, 2018 Expression of histone H3.3K27M mutant proteins in human diffuse intrinsic pontine glioma (DIPG) results in a global reduction of tri-methylation of H3K27 (H3K27me3), and paradoxically, H3K27me3 peaks remain at hundreds of genomic loci, a dichotomous ...
Fang D +7 more
europepmc +2 more sources
Mutant p53: one name, many proteins. [PDF]
Genes & Development, 2012 There is now strong evidence that mutation not only abrogates p53 tumor-suppressive functions, but in some instances can also endow mutant proteins with novel activities.
William A. Freed-Pastor, C. Prives
semanticscholar +3 more sources
Mutant proteins as cancer-specific biomarkers [PDF]
Proceedings of the National Academy of Sciences, 2011 Cancer biomarkers are currently the subject of intense research because of their potential utility for diagnosis, prognosis, and targeted therapy. In theory, the gene products resulting from somatic mutations are the ultimate protein biomarkers, being not simply associated with tumors but actually responsible for tumorigenesis.
Qing Wang +12 more
semanticscholar +3 more sources
ALS mutant FUS proteins are recruited into stress granules in induced pluripotent stem cells- derived motoneurons [PDF]
Disease Models & Mechanisms, 2015 Patient-derived induced Pluripotent Stem Cells (iPSCs) provide an opportunity to study human diseases mainly in those cases where no suitable model systems are available.
Bozzoni, Irene +9 more
core +5 more sources
Repressing mutant proteins [PDF]
Nature Reviews Neuroscience, 2019 Isobel Leake
semanticscholar +3 more sources
PLoS ONE, 2010 BackgroundFrameshift mutations in microsatellite instability high (MSI-High) colorectal cancers are a potential source of targetable neo-antigens. Many nonsense transcripts are subject to rapid degradation due to nonsense-mediated decay (NMD), but ...
David S Williams +7 more
doaj +2 more sources
Mutant p53 proteins counteract autophagic mechanism sensitizing cancer cells to mTOR inhibition
Molecular Oncology, 2016 Mutations in TP53 gene play a pivotal role in tumorigenesis and cancer development. Here, we report that gain‐of‐function mutant p53 proteins inhibit the autophagic pathway favoring antiapoptotic effects as well as proliferation of pancreas and breast ...
Marco Cordani +13 more
doaj +2 more sources
New therapeutic strategies to treat human cancers expressing mutant p53 proteins
Journal of Experimental & Clinical Cancer Research, 2018 The tumor suppressor p53 plays a critical role to preserve DNA fidelity from diverse insults through the regulation of cell-cycle checkpoints, DNA repair, senescence and apoptosis. The TP53 is the most frequently inactivated gene in human cancers.
Giovanni Blandino, Silvia Di Agostino
doaj +2 more sources
Impact of HLD6-associated TUBB4A mutant proteins on cell morphogenesis [PDF]
BMC Research NotesOligodendroglial cells are a type of glial cell in the central nervous system (CNS) that surround neuronal axons with a specialized cell membrane called the myelin sheath.
Yuki Kasamatsu +4 more
doaj +2 more sources
Expression, purification and characterization of cellobiose dehydrogenase mutants from Phanerochaete chrysosporium in Pichia pastoris KM71H strain [PDF]
Journal of the Serbian Chemical Society, 2020 Production of soluble cellobiose dehydrogenase (CDH) mutant proteins previously evolved on the surface of S. cerevisiae yeast cells was established for use in biosensors and biofuel cells.
Balaž Ana Marija J. +6 more
doaj +1 more source