Search results for " Metabolic diseases"

showing 10 items of 699 documents

Characterization of a mutant form of human apolipoprotein B (Thr26_Tyr27del) associated with familial hypobetalipoproteinemia

2016

We have previously identified a deletion mutant of human apoB [apoB (Thr26_Tyr27del)] in a subject with primary hypobetalipoproteinemia. The present study determined the effect of Thr26_Tyr27del mutation on apoB secretion using transfected McA-RH7777 cells. Transient or stable transfection of apoB-48 containing the Thr26_Tyr27del mutation showed drastically reduced secretion of the mutant as compared to wild-type apoB-48. No lipoproteins containing the mutant apoB-48 were secreted into the medium. Incubation of transfected cells in a lipid-rich medium in the presence of cycloheximide showed rapid turnover of cell-associated mutant apoB-48 as compared to that of wild-type apoB-48. Immunofluo…

0301 basic medicineSettore MED/09 - Medicina InternaTime FactorsApolipoprotein B-48 secretionApolipoprotein BMutantDNA Mutational AnalysisApolipoprotein B mutation Apolipoprotein B-48 secretion Hypobetalipoproteinemia Proteasomal degradation030204 cardiovascular system & hematologymedicine.disease_causeEndoplasmic ReticulumHypobetalipoproteinemiaschemistry.chemical_compound0302 clinical medicineProteasomal degradationProteolysiSequence DeletionMutationbiologyMedicine (all)TransfectionProteasome InhibitorPhenotypeBiochemistryApolipoprotein B-100lipids (amino acids peptides and proteins)Proteasome InhibitorsHumanHeterozygoteProteasome Endopeptidase ComplexTime FactorCycloheximideTransfectiondigestive systemCell LineDNA Mutational Analysi03 medical and health sciencesmedicineHumansSecretionGenetic Predisposition to DiseaseMolecular BiologyEndoplasmic reticulumnutritional and metabolic diseasesCell Biologymedicine.diseaseMolecular biology030104 developmental biologychemistryProteolysisbiology.proteinHypobetalipoproteinemiaApolipoprotein B mutationApolipoprotein B-48Hypobetalipoproteinemia
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Human Intrinsic Factor Expression for Bioavailable Vitamin B12 Enrichment in Microalgae

2018

Dietary supplements and functional foods are becoming increasingly popular complements to regular diets. A recurring ingredient is the essential cofactor vitamin B12(B12). Microalgae are making their way into the dietary supplement and functional food market but do not produce B12, and their B12 content is very variable. In this study, the suitability of using the human B12-binding protein intrinsic factor (IF) to enrich bioavailable B12 using microalgae was tested. The IF protein was successfully expressed from the nuclear genome of the model microalga Chlamydomonas reinhardtii and the addition of an N-terminal ARS2 signal peptide resulted in efficient IF secretion to the medium. Co-abunda…

0301 basic medicineSignal peptide<i>Chlamydomonas</i>; vitamin B<sub>12</sub>; cobalamin; intrinsic factor; microalgae; nuclear transformation; recombinant protein; dietary supplements; functional foodsChlamydomonaChlamydomonas reinhardtiiArticleGeneral Biochemistry Genetics and Molecular Biologydietary supplements03 medical and health sciencesIngredientnuclear transformationFunctional foodpolycyclic compoundsVitamin B12Food sciencecobalaminlcsh:QH301-705.5functional foodsIntrinsic factorGeneral Immunology and MicrobiologybiologymicroalgaeChlamydomonasChlamydomonasnutritional and metabolic diseasesvitamin B12biology.organism_classificationBioavailability030104 developmental biologylcsh:Biology (General)dietary supplementintrinsic factorGeneral Agricultural and Biological Sciencesrecombinant proteinBiology; Volume 7; Issue 1; Pages: 19
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Regulating T-cell differentiation through the polyamine spermidine

2021

Background The cross-talk between the host and its microbiota plays a key role in the promotion of health. The production of metabolites such as polyamines by intestinal-resident bacteria is part of this symbiosis shaping host immunity. The polyamines putrescine, spermine, and spermidine are abundant within the gastrointestinal tract and might substantially contribute to gut immunity. Objective We aimed to characterize the polyamine spermidine as a modulator of T-cell differentiation and function. Methods Naive T cells were isolated from wild-type mice or cord blood from healthy donors and submitted to polarizing cytokines, with and without spermidine treatment, to evaluate CD4+ T-cell diff…

0301 basic medicineSpermine oxidaseSpermidineImmunologySpermineBiologyT-Lymphocytes RegulatoryOrnithine decarboxylaseMice03 medical and health scienceschemistry.chemical_compound0302 clinical medicineAnimalsImmunology and AllergyImmunity MucosalMice KnockoutMice Inbred BALB CFOXP3Cell DifferentiationDendritic cellColitisCell biologySpermidine030104 developmental biologychemistryCardiovascular and Metabolic DiseasesPutrescinePolyamine030215 immunology
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Bacterial antisense RNAs are mainly the product of transcriptional noise

2015

Most of the antisense transcripts in bacteria are the product of transcriptional noise derived from spurious promoters.

0301 basic medicineTranscription GeneticBacterial antisense RNAs030106 microbiologyinformation scienceBiologyGenomeTranscriptome03 medical and health sciencesSpecies SpecificityTranscription (biology)medicineLife Sciencenatural sciencesRNA AntisenseSystems and Synthetic BiologyResearch ArticlesGeneticsBiomoleculesMessenger RNASysteem en Synthetische BiologieMultidisciplinaryRNASciAdv r-articlesPromotersocial sciencesmedicine.diseaseequipment and supplieshealth care quality access and evaluationChloroplastRNA BacterialCardiovascular and Metabolic Diseasesbacterial antisense RNAsRNATranscriptomeTranscriptional noiseResearch ArticleScience Advances
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Brain Control of Plasma Cholesterol Involves Polysialic Acid Molecules in the Hypothalamus

2017

IF 3.566; International audience; The polysialic acid (PSA) is a large glycan that is added to cell-surface proteins during their post-translational maturation. In the brain, PSA modulates distances between cells and controls the plasticity of the nervous system. In the hypothalamus, PSA is involved in many aspects of energy balance including food intake, osmoregulation, circadian rhythm, and sleep. In this work, we investigated the role of hypothalamic PSA in the regulation of plasma cholesterol levels and distribution. We report that HFD consumption in mice rapidly increased plasma cholesterol, including VLDL, LDL, and HDL-cholesterol. Although plasma VLDL-cholesterol was normalized withi…

0301 basic medicineVery low-density lipoprotein[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiologyurologic and male genital diseaseschemistry.chemical_compound0302 clinical medicinemaladie cardiovasculairehypothalamusOriginal Research[SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism2. Zero hungerGeneral Neurosciencecholestérol[ SDV.MHEP.EM ] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismHypothalamus[ SDV.NEU.NB ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyAlimentation et NutritionOsmoregulationcerveaulipids (amino acids peptides and proteins)medicine.medical_specialtypolysialic acidHDLBiologylcsh:RC321-571LDL03 medical and health sciencespolysialic acid;hypothalamus;atherosclerosis;HDL;LDL;synaptic plasticityInternal medicinemedicineFood and NutritionCircadian rhythmlcsh:Neurosciences. Biological psychiatry. Neuropsychiatrysynaptic plasticityCholesterolPolysialic acidNeurosciencesathérosclérose[SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiologynutritional and metabolic diseasesmedicine.disease030104 developmental biologyEndocrinologychemistryNeurons and Cognitionatherosclerosis030217 neurology & neurosurgeryDyslipidemiaHomeostasisNeuroscienceFrontiers in Neuroscience
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Statement of the Prolamin Working Group on the Determination of Gluten in Fermented Foods Containing Partially Hydrolyzed Gluten

2021

On August 12, 2020, the U.S. Food and Drug Administration (FDA) has finalized a rule related to gluten-free labeling for foods containing fermented, hydrolyzed ingredients. The FDA believes that there is no scientifically valid analytical method effective for determining gluten in fermented or hydrolyzed foods. In the absence of an analytical method, the FDA has decided to evaluate gluten-free claims on these foods based only on evidence that the food or ingredient used is gluten-free before fermentation or hydrolysis. For example, barley-based beers from which gluten is removed during brewing using special filtration, adsorption and/or enzymatic treatment are therefore excluded from bearin…

0301 basic medicineanalysifermented foodanalysisEndocrinology Diabetes and MetabolismIngredientProlaminFood scienceIngredient0302 clinical medicinehydrolysed beer[SDV.IDA]Life Sciences [q-bio]/Food engineeringFood scienceFermentation in food processingComputingMilieux_MISCELLANEOUS2. Zero hungerchemistry.chemical_classificationNutrition and DieteticsbiologyChemistryHydrolysisdigestive oral and skin physiologyfood and beveragesQuímicaChemistryFermentation in food processingProlamin Working Groupgluten-free foodpartially hydrolyzed glutenlcsh:Nutrition. Foods and food supplyLife sciences; biologyOpinioncompetitive ELISAlcsh:TX341-641030209 endocrinology & metabolismdigestive systemFood and drug administration03 medical and health sciencesHydrolysisddc:570ProlaminLC-MS/MSFood and drug administrationNutrition030109 nutrition & dieteticsbusiness.industrynutritional and metabolic diseasesBrewingGlutendigestive system diseasesPlant BreedingglutenFermentationbiology.proteinBrewingFermentation[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologiebusiness[SDV.AEN]Life Sciences [q-bio]/Food and Nutritionceliac diseaseFrontiers in Nutrition
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Polyphosphate Reverses the Toxicity of the Quasi-Enzyme Bleomycin on Alveolar Endothelial Lung Cells In Vitro

2021

Simple Summary Bleomycin (BLM) is a medication introduced used to treat various types of cancer, including testicular cancer, ovarian cancer, and Hodgkin’s disease. Its most serious side effect is pulmonary fibrosis and impaired lung function. Using A549 human lung cells it is shown that, in parallel to an increased cell toxicity and DNA damage, BLM causes a marked enlargement of the cell nucleus. This effect is abolished by inorganic polyphosphate (polyP), if this physiological polymer is administered together with BLM. The detoxification of BLM is–most likely–caused by the upregulation of the gene encoding the BLM hydrolase which inactivates BLM in vitro and in vivo. This study contribute…

0301 basic medicinecongenital hereditary and neonatal diseases and abnormalitiesCancer ResearchDNA damageBleomycinlcsh:RC254-282Article03 medical and health scienceschemistry.chemical_compound0302 clinical medicineanti-SARS-CoV-2 activityDownregulation and upregulationprevention of fibrosischemistry.chemical_classificationbleomycinpulmonary fibrosisurogenital systemChemistryCell growthCOVID-19nutritional and metabolic diseasespolyphosphatelcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensMolecular biologyIn vitroChromatin030104 developmental biologyEnzymeOncology030220 oncology & carcinogenesisToxicityCancers
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Ophthalmological Findings in Mucopolysaccharidoses

2019

The mucopolysaccharidoses (MPS) are a heterogenous group of lysosomal storage disorders caused by the accumulation of glycosaminoglycans (GAGs). The accrual of these compounds results in phenotypically varied syndromes that produce multi-organ impairment with widespread systemic effects. The low incidence of MPS (approximately 1/25,000 live births) in conjunction with the high childhood mortality rate had limited the availability of research into certain clinical features, especially ocular manifestations. As the recent successes of hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) have greatly increased life expectancy in these patients, they have served a…

0301 basic medicinecongenital hereditary and neonatal diseases and abnormalitiesPediatricsmedicine.medical_specialtygenetic structuresmedicine.medical_treatmentMucopolysaccharidosislcsh:MedicineGlaucomaReviewHematopoietic stem cell transplantation03 medical and health sciences0302 clinical medicineQuality of lifeCorneal cloudingmedicinebusiness.industryMortality rateIncidence (epidemiology)lcsh:Rnutritional and metabolic diseasesmucopolysaccharidosisGeneral MedicineEnzyme replacement therapymedicine.diseaseocular manifestationseye diseasesophthalmology030104 developmental biologycorneal clouding030221 ophthalmology & optometrylysosomal storage disordersense organsbusinessJournal of Clinical Medicine
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Clinical Guide and Update on Porphyrias.

2019

Physicians should be aware of porphyrias, which could be responsible for unexplained gastrointestinal, neurologic, or skin disorders. Despite their relative rarity and complexity, most porphyrias can be easily defined and diagnosed. They are caused by well-characterized enzyme defects in the complex heme biosynthetic pathway and are divided into categories of acute vs non-acute or hepatic vs erythropoietic porphyrias. Acute hepatic porphyrias (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and aminolevulinic acid dehydratase deficient porphyria) manifest in attacks and are characterized by overproduction of porphyrin precursors, producing often serious abdomin…

0301 basic medicinecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyPorphyrinsGastrointestinal DiseasesVariegate porphyriaPorphobilinogenCongenital erythropoietic porphyriaGastroenterologySkin Diseases03 medical and health sciencesPorphyrias0302 clinical medicineInternal medicinemedicineHumansPorphyria cutanea tardaskin and connective tissue diseasesAcute intermittent porphyriaHepatologybusiness.industryHepatoerythropoietic porphyriaGastroenterologynutritional and metabolic diseasesAminolevulinic Acidmedicine.disease030104 developmental biologyHereditary coproporphyriaPorphyriaPractice Guidelines as Topic030211 gastroenterology & hepatologyErythropoietic protoporphyriaNervous System DiseasesbusinessGastroenterology
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IL-10 signaling prevents gluten-dependent intraepithelial CD4(+) cytotoxic T lymphocyte infiltration and epithelial damage in the small intestine

2019

Breach of tolerance to gluten leads to the chronic small intestinal enteropathy celiac disease. A key event in celiac disease development is gluten-dependent infiltration of activated cytotoxic intraepithelial lymphocytes (IELs), which cytolyze epithelial cells causing crypt hyperplasia and villous atrophy. The mechanisms leading to gluten-dependent small intestinal IEL infiltration and activation remain elusive. We have demonstrated that under homeostatic conditions in mice, gluten drives the differentiation of anti-inflammatory T cells producing large amounts of the immunosuppressive cytokine interleukin-10 (IL-10). Here we addressed whether this dominant IL-10 axis prevents gluten-depend…

0301 basic medicineeducation.field_of_studyChemistryImmunologyPopulationnutritional and metabolic diseasesmedicine.diseasedigestive systemdigestive system diseasesImmune toleranceGranzyme BEpithelial Damage03 medical and health sciences030104 developmental biology0302 clinical medicinemedicineCancer researchImmunology and AllergyIntraepithelial lymphocyteCytotoxic T cellEnteropathyeducationInfiltration (medical)030215 immunologyMucosal Immunology
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