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  • peptides
  • However, other methodologies would potentially provide additional information such as studies on the effects of Cry proteins and derived peptides on the indigenous gastrointestinal microbiota and on intestinal epithelial cells of humans. (wur.nl)
  • As there is growing evidence indicating that the more common neurodegenerative diseases, notably Alzheimer's and Parkinson's diseases, are also caused by aggregation of peptides or proteins such as Aβ, tau, and α-synuclein, it is possible that this assay could be adopted for clinical application across a spectrum of neurodegenerative disorders. (sciencemag.org)
  • BRCA1
  • Here, we report on the transfection of cDNA coding for the putative truncated protein product of the BRCA1 185delAG mutant gene into BRCA1 wild-type human immortalized ovarian surface epithelial (IOSE) cells and ovarian cancer cells. (usf.edu)
  • Cells transfected with the BRCA1 185delAG truncation protein (BRAt) showed increased levels of active caspase 3, increased cleavage of caspase 3 substrates, PARP and DFF45, and decreased XIAP and cIAP1 following staurosporine (STS) treatment. (usf.edu)
  • BRCA1 wild-type IOSE cells were transfected with BRAt protein and showed increased maspin mRNA levels and increased nuclear maspin protein levels as compared to control cells. (usf.edu)
  • Additionally, both heterozygous carriers of the BRCA1 185delAG mutation and cells transfected with BRAt protein show an increased ability to activate the maspin promoter as compared to control cells. (usf.edu)
  • The data demonstrate that, even though BRCA1 BRCT domain mutant proteins cannot promote DNA end resection, they retain partial function and can contribute to RAD51 loading and HR. Finally, HSP90 inhibition may prove useful for resensitizing resistant BRCA1 -mutant cancer cells to drug treatment. (pnas.org)
  • Breast Cancer Type 1 Susceptibility Protein (BRCA1)-deficient cells have compromised DNA repair and are sensitive to poly(ADP-ribose) polymerase (PARP) inhibitors. (pnas.org)
  • gene
  • By altering two nucleic acids in the prion gene, the researchers developed a transgenic mouse model that expressed the mutant prion protein. (bio-medicine.org)
  • Furthermore, the researchers determined that the protein could also be inactivated as a downstream consequence of common biochemical abnormalities that arise in lung cancer, even in cases where the CIC gene itself is not mutated. (ucsf.edu)
  • This work quickly led to the identification of CIC gene deletion and lack of the corresponding CIC protein as a suspect in lung cancer metastasis. (ucsf.edu)
  • And once you have identified what protein has been mutated how would you identify the gene? (biology-online.org)
  • HGPS is most commonly caused by a de novo single-nucleotide substitution in the lamin A/C gene ( LMNA ) that partially activates a cryptic splice donor site in exon 11, producing an abnormal lamin A protein termed progerin. (sciencemag.org)
  • Frigaard NU, Voigt GD, Bryant DA (2002) Chlorobium tepidum mutant lacking bacteriochlorophyll c made by inactivation of the bchK gene, encoding bacteriochlorophyll c synthase. (springer.com)
  • Angiogenin is a protein of 14.1 kDa encoded by ANG gene and belongs to a superfamily of pancreatic ribonuclease A. Angiogenin is an effective stimulator of new blood vessels formation. (omicsonline.org)
  • tumor
  • But according to a new study led by UC San Francisco scientists, the cancer's ability to spread may often be due to the inactivation of a single protective protein within tumor cells. (ucsf.edu)
  • Cold Spring Harbor, NY - Discovered in the 1970s, tumor suppressors are among the most important proteins in the body. (eurekalert.org)
  • The variants studied are truncated - "they lack roughly half of the domains, or units, of the full-length p53 protein, specifically the domains that enable full-length p53 to enter the cell nucleus and bind DNA, both essential in its normal tumor-suppressor function," says CSHL Associate Professor Raffaella Sordella, who led the research in a collaboration with Professor Scott Lowe, a former CSHL colleague now at Memorial Sloan Kettering. (eurekalert.org)
  • In studies in cell culture and living mice, the team performed an array of experiments demonstrating that p53 proteins truncated after the 6th protein-coding segment, called exon 6, "no longer function as tumor suppressors but instead promote cancer by directly altering the functions of mitochondria," according to Sordella. (eurekalert.org)
  • phenotypes
  • K. Cao, J. J. Graziotto, C. D. Blair, J. R. Mazzulli, M. R. Erdos, D. Krainc, F. S. Collins, Rapamycin Reverses Cellular Phenotypes and Enhances Mutant Protein Clearance in Hutchinson-Gilford Progeria Syndrome Cells. (sciencemag.org)
  • MeSH
  • Mutant Proteins" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (ouhsc.edu)
  • cells
  • But in a new study published in the April 16, 2014 online issue of Neuron , a team of scientists at the University of California, San Diego School of Medicine say novel mouse studies indicate that mutant protein levels in muscle cells, not motor neurons, are fundamentally involved in SBMA, suggesting an alternative and promising new avenue of treatment for a condition that is currently incurable. (medindia.net)
  • It belongs to a group of diseases, such as Huntington's disease, in which a C-A-G DNA sequence is repeated too many times, resulting in a protein with too many glutamines (an amino acid), causing the diseased protein to misfold and produce harmful consequences for affected cells. (medindia.net)
  • Overexpression of isocitrate dehydrogenase mutant proteins renders glioma cells more sensitive to radiation. (nih.gov)
  • Two types of DNA damage that frequently befall most cells on an everyday basis can lead to the creation of damaged proteins that may contribute to neurodegeneration, aging and cancer, according to research by scientists at Emory University School of Medicine, published in the October 23 issue of the journal Molecular Cell. (innovations-report.com)
  • The investigators used e. coli cells as a model system to study specific kinds of genetic damages that occur in all non-dividing cells undergoing transcription -- the everyday activity in which cells produce the proteins necessary to carry out bodily processes. (innovations-report.com)
  • Most of the cells within organisms are no longer replicating, however, and instead spend their time manufacturing proteins. (innovations-report.com)
  • TM occurs when cells with damaged DNA produce bad messages during transcription that lead to the creation of mutant proteins. (innovations-report.com)
  • One type of spontaneous genetic damage occurs in non-dividing cells when cytosine (C), one of the four amino-acid bases (A, T, G, and C) spontaneously changes to uracil (U). This common substitution causes genetic miscoding that can lead to TM and the manufacture of mutant proteins during transcription. (innovations-report.com)
  • In some cases this miscoding could cause a cell to manufacture a mutant protein that controls cell division, which could take the cell from a non-growth state to a growth state and contribute to malignant transformation in the case of mammalian cells. (innovations-report.com)
  • Although our study was in e.coli, very similar systems operate to repair genetic damage in human cells, thus this is a very important model for helping understand the mechanisms in non-dividing cells that can cause the manufacture of mutant proteins as a result of genetic damage to cells, says Dr. Doetsch. (innovations-report.com)
  • The second part of the hypothetical situation is that once the mutant line has been isolated after a period of time mononucleate cells begin to appears. (biology-online.org)
  • This study investigated the changes in the soluble proteome of 3T3-L1 cells upon expression of the WT and the mutant (R316Q) FTO proteins. (hindawi.com)
  • One of the identified proteins was heterogeneous nuclear ribonucleoprotein K, which displayed more than 2.6- and 3.7-fold increases in its abundance in the WT and the mutant FTO expressing cells, respectively. (hindawi.com)
  • Similarly, maspin protein has been shown to sensitize breast carcinoma cells to STS-induced apoptosis. (usf.edu)
  • We provide the first evidence that BRAt is sufficient to induce maspin protein in IOSE cells. (usf.edu)
  • The transduced mutant αA-G98R protein forms larger aggregates in HLE-B3 cells compared to the αA-Wt. (arvojournals.org)
  • They also found a global reduction in the levels of methylation of normal H3 histones when small amounts of the mutant H3 were added to normal human cells. (redorbit.com)
  • A serum-free medium system was used for the large-scale expression of recombinant wild-type, R124C and R555W BIGH3 proteins in 293 cells. (arvojournals.org)
  • Cells in mutant embryos show abnormal dilation of the ER and degenerating mitochondria. (rupress.org)
  • substitutions
  • Functional Apolipoprotein A-I mutant proteins, having one or more cysteine substitutions and polynucleotides encoding same, can be used to modulate paraoxonase's arylesterase activity. (energy.gov)
  • The structures of these mutant PCNA proteins revealed that three of the four substitutions caused disruptions near the subunit interface of PCNA. (uiowa.edu)
  • Accumulation
  • In spite of ceramide accumulation, CERT mutant mice do not die as a result of enhanced apoptosis. (rupress.org)
  • Thus, global compromise of ER and mitochondrial integrity caused by ceramide accumulation in CERT mutant mice primarily affects organogenesis rather than causing cell death via apoptotic pathways. (rupress.org)
  • Genome
  • Their findings, published last week in Science Express, follow a recent series of discoveries by several international genome sequencing consortiums that directly links a mutated histone protein to a rare brain stem cancer in children called DIPG. (redorbit.com)
  • A master regulator of growth -- "the guardian of the genome" -- the p53 protein monitors cell growth for errors. (eurekalert.org)
  • membrane
  • Like p53Ψ, exon 6-truncated p53 appears to promote cancer by locating to mitochondria, where it docks with a membrane protein called Cyclophilin D (CypD). (eurekalert.org)
  • Self-aggregated bacteriochlorophyll pigments are surrounded by a monolayer envelope membrane comprised of glycolipids and Csm proteins. (springer.com)
  • survival
  • After creating a new mouse model of SBMA, they discovered that skeletal muscle was the site of mutant protein toxicity and that measures which mitigated the protein's influence in muscle suppressed symptoms of SBMA in treated mice, such as weight loss and progressive weakness, and increased survival. (medindia.net)
  • transgenic
  • Nevertheless, there is some concern in relation to the food safety of transgenic crops, especially to the heterologously expressed proteins. (wur.nl)
  • scientists
  • The Emory scientists present direct evidence that mutated proteins can be manufactured through this transcription pathway. (innovations-report.com)
  • Scientists at Southern Research in Birmingham are studying a mutated protein that could hold the key to both development and treatment of this disease and possibly make the cancer more susceptible to radiation treatment. (birminghammedicalnews.com)
  • mice
  • The research team, including Christina J. Sigurdson, D.V.M., Ph.D., assistant professor of pathology at the University of California, San Diego School of Medicine, also discovered that changing the structure of the prion protein by altering just two nucleic acids leads to a fatal neurological disorder in mice. (bio-medicine.org)
  • These changes resulted in a "loop" in the protein structure of the mice that was rigid similar to the structure of the elk prion protein, and unlike the flexible "loop" found in normal mouse or human prion proteins. (bio-medicine.org)
  • Aging mice with the "rigid loop" prion protein accumulated plaques in the brain and developed symptoms of neurological disease that are features of prion-related disorders. (bio-medicine.org)
  • We also found that by transferring brain tissue from mice with the mutant protein into mice expressing the normal mouse prion protein, we could transmit the neurologic disease between the two groups of animals. (bio-medicine.org)
  • inhibition
  • We now have a model for the promotion of brain stem cancers through aberrant epigenetic silencing through the inhibition of PRC2 by a mutant histone," says Allis. (redorbit.com)
  • therapeutic
  • These ApoA-I mutant proteins can be used as therapeutic agents to combat cardiovascular disease, atherosclerosis, acute phase response and other inflammatory related diseases. (energy.gov)
  • characterization
  • Frigaard NU, Li H, Martinsson P, Das SK, Frank HA, Aartsma TJ, Bryant DA (2005) Isolation and characterization of carotenosomes from a bacteriochlorophyll c -less mutant of Chlorobium tepidum . (springer.com)
  • predict
  • Indeed, abundance of exon 6-truncated p53 proteins seems to predict bad outcomes even in cancers treated early and aggressively. (eurekalert.org)
  • drugs
  • The study shows the potential utility of drugs that block mutant tyrosine kinases, and that these drugs are opening more doors to treating cancers," explains Stone. (bio-medicine.org)
  • result
  • Mutant proteins result in infectious prion disea. (bio-medicine.org)
  • Prion diseases are thought to be a result of a misfolded form of the prion protein that induces formation of amyloid plaques in the brain changes that are also seen in patients with Alzheimer's disease. (bio-medicine.org)
  • This result emphasizes the need to find more stable proteins for the creation of a sensitive element for a glucose biosensor system. (peerj.com)
  • motif
  • The ratio of monogalactosyldiacylglyceride (MGDG) to rhamnosylgalactosyldiacylglyceride (RGDG) was smaller in chlorosomes from mutants lacking two or three proteins in CsmC/D/H motif family than in chlorosomes from the wild-type, whereas chlorosomes lacking CsmIJ showed relatively less RGDG than MGDG. (springer.com)
  • To facilitate protein purification, a (His) 6 -tag motif was inserted after the sequence encoding the signal peptide of BIGH3 in expression plasmids and a strep-tag II motif was inserted before the RGD sequence in the C-terminus. (arvojournals.org)
  • nuclear
  • Proliferating cell nuclear antigen (PCNA) is a versatile protein involved in all pathways of DNA metabolism. (uiowa.edu)
  • study
  • This is the first study revealing the presence of a parallel increase in expressions of FTO and HNRNPK proteins. (hindawi.com)
  • This thesis focuses on the study of PCNA mutant proteins that affect translesion synthesis (TLS) and mismatch repair (MMR). (uiowa.edu)
  • progression
  • Rebecca Boohaker, Assistant Fellow in Southern Research's Drug Discovery Oncology Department, and postgraduate researcher Joshua Fried are focusing on the Speckle-Type POZ Protein (SPOP) which is mutated in up to 20 percent of primary prostate tumors and can define a distinct subclass of prostate cancer and possibly determine the aggressiveness and progression of the disease. (birminghammedicalnews.com)
  • amyloid
  • It could be that this 'loop' region of the protein can promote the formation of amyloid plaques in the brain," said Sigurdson. (bio-medicine.org)
  • Nucleotide
  • The invention also includes modifications and optimizations of the ApoA-I nucleotide sequence for purposes of increasing protein expression and optimization. (energy.gov)
  • context
  • To address the mechanism underlying the superior clinical outcome of IDH1/2 mutant glioma patients, we investigated whether overexpression of the IDH1(R132H) protein could affect response to therapy in the context of an isogenic glioma cell background. (nih.gov)
  • levels
  • The possibility to measure protein levels of GC in clinical samples may provide deeper insight into the phenomenology of Gaucher's disease. (uva.nl)
  • Instead, cell proliferation is impaired, and expression levels of cell cycle-associated proteins are altered. (rupress.org)
  • cancers
  • We found that this protein, first discovered as a regulator of development in the fruit fly, and also known to direct normal development of air sacs in the lungs, can be co-opted by tumors and inactivated to cause cancers to spread," Bivona said. (ucsf.edu)
  • By studying data on human tumors, the team learned that the truncated p53 proteins were most likely to be found in what Dr. Sordella calls "the hardest cancers" - ones that resist treatment and are likely to reappear even if surgically removed. (eurekalert.org)
  • point
  • Our results on the risk analysis of Cry8Ka5 taken together with those of other Cry proteins, point out that there is a high degree of certainty on their food safety. (wur.nl)
  • To determine the function of the highly conserved amino acids Ser152, Arg154, and Asp198 point mutants were generated. (deepdyve.com)
  • site
  • The mutant forms of PCNA and Ub-PCNA do not stimulate TLS of an abasic site by either classical pol δ or non-classical pol η. (uiowa.edu)
  • Previously
  • Previously, two mutant forms of PCNA were identified that cause defects in MMR with little if any other defects. (uiowa.edu)