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  1. Article ; Online: Advances in Nucleotide Repeat Expansion Diseases: Transcription Gets in Phase.

    Figueiredo, Ana S / Loureiro, Joana R / Macedo-Ribeiro, Sandra / Silveira, Isabel

    Cells

    2023  Volume 12, Issue 6

    Abstract: Unstable DNA repeat expansions and insertions have been found to cause more than 50 neurodevelopmental, neurodegenerative, and neuromuscular disorders. One of the main hallmarks of repeat expansion diseases is the formation of abnormal RNA or protein ... ...

    Abstract Unstable DNA repeat expansions and insertions have been found to cause more than 50 neurodevelopmental, neurodegenerative, and neuromuscular disorders. One of the main hallmarks of repeat expansion diseases is the formation of abnormal RNA or protein aggregates in the neuronal cells of affected individuals. Recent evidence indicates that alterations of the dynamic or material properties of biomolecular condensates assembled by liquid/liquid phase separation are critical for the formation of these aggregates. This is a thermodynamically-driven and reversible local phenomenon that condenses macromolecules into liquid-like compartments responsible for compartmentalizing molecules required for vital cellular processes. Disease-associated repeat expansions modulate the phase separation properties of RNAs and proteins, interfering with the composition and/or the material properties of biomolecular condensates and resulting in the formation of abnormal aggregates. Since several repeat expansions have arisen in genes encoding crucial players in transcription, this raises the hypothesis that wide gene expression dysregulation is common to multiple repeat expansion diseases. This review will cover the impact of these mutations in the formation of aberrant aggregates and how they modify gene transcription.
    MeSH term(s) Humans ; DNA Repeat Expansion/genetics ; Mutation ; Proteins/genetics ; Neuromuscular Diseases/genetics ; RNA/genetics ; Nucleotides
    Chemical Substances Proteins ; RNA (63231-63-0) ; Nucleotides
    Language English
    Publishing date 2023-03-07
    Publishing country Switzerland
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2661518-6
    ISSN 2073-4409 ; 2073-4409
    ISSN (online) 2073-4409
    ISSN 2073-4409
    DOI 10.3390/cells12060826
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Molecular Mechanisms in Pentanucleotide Repeat Diseases.

    Loureiro, Joana R / Castro, Ana F / Figueiredo, Ana S / Silveira, Isabel

    Cells

    2022  Volume 11, Issue 2

    Abstract: The number of neurodegenerative diseases resulting from repeat expansion has increased extraordinarily in recent years. In several of these pathologies, the repeat can be transcribed in RNA from both DNA strands producing, at least, one toxic RNA repeat ... ...

    Abstract The number of neurodegenerative diseases resulting from repeat expansion has increased extraordinarily in recent years. In several of these pathologies, the repeat can be transcribed in RNA from both DNA strands producing, at least, one toxic RNA repeat that causes neurodegeneration by a complex mechanism. Recently, seven diseases have been found caused by a novel intronic pentanucleotide repeat in distinct genes encoding proteins highly expressed in the cerebellum. These disorders are clinically heterogeneous being characterized by impaired motor function, resulting from ataxia or epilepsy. The role that apparently normal proteins from these mutant genes play in these pathologies is not known. However, recent advances in previously known spinocerebellar ataxias originated by abnormal non-coding pentanucleotide repeats point to a gain of a toxic function by the pathogenic repeat-containing RNA that abnormally forms nuclear foci with RNA-binding proteins. In cells, RNA foci have been shown to be formed by phase separation. Moreover, the field of repeat expansions has lately achieved an extraordinary progress with the discovery that RNA repeats, polyglutamine, and polyalanine proteins are crucial for the formation of nuclear membraneless organelles by phase separation, which is perturbed when they are expanded. This review will cover the amazing advances on repeat diseases.
    MeSH term(s) Alleles ; Alu Elements/genetics ; Animals ; Base Sequence ; Humans ; Microsatellite Repeats/genetics ; Mutagenesis, Insertional/genetics ; Neurodegenerative Diseases/genetics
    Language English
    Publishing date 2022-01-08
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2661518-6
    ISSN 2073-4409 ; 2073-4409
    ISSN (online) 2073-4409
    ISSN 2073-4409
    DOI 10.3390/cells11020205
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Recovery of Phenolic Compounds from Red Grape Pomace Extract through Nanofiltration Membranes.

    Arboleda Mejia, Jaime A / Ricci, Arianna / Figueiredo, Ana S / Versari, Andrea / Cassano, Alfredo / Parpinello, Giuseppina P / De Pinho, Maria N

    Foods (Basel, Switzerland)

    2020  Volume 9, Issue 11

    Abstract: The winemaking process generates a large amount of residues such as vine shots, stalks, grape pomace, and wine lees, which were only recently considered for exploitation of their valuable compounds. The purpose of this work was to investigate the ... ...

    Abstract The winemaking process generates a large amount of residues such as vine shots, stalks, grape pomace, and wine lees, which were only recently considered for exploitation of their valuable compounds. The purpose of this work was to investigate the performance of nanofiltration for the recovery of phenolic compounds, with bioactive capacity like antioxidant, from red grape pomace extract. Four membranes were compared in this study-three cellulose acetate (CA series: lab-prepared by phase inversion) and one commercial (NF90). All membranes were characterized for their hydraulic permeability and rejection coefficients to reference solutes like saccharose, glucose, raffinose, polyethylene glycol, sodium chloride, and sodium sulfate. Permeation flowrates and rejection coefficients towards total phenolics content, antioxidant activity, proanthocyanidins, glucose and fructose were measured in the nanofiltration of grape pomace extract using selected operating conditions. Among the investigated membranes, the CA400-22 exhibited the highest permeate flux (50.58 L/m
    Language English
    Publishing date 2020-11-12
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2704223-6
    ISSN 2304-8158
    ISSN 2304-8158
    DOI 10.3390/foods9111649
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Genotypic and phenotypic traits of bla

    Tavares, Rafael D S / Tacão, Marta / Figueiredo, Ana S / Duarte, Ana S / Esposito, Fernanda / Lincopan, Nilton / Manaia, Célia M / Henriques, Isabel

    Water research

    2020  Volume 184, Page(s) 116079

    Abstract: Wastewater treatment plants (WWTPs) are relevant sources of antibiotic resistance into aquatic environments. Disinfection of WWTPs' effluents (e.g. by UV-C irradiation) may attenuate this problem, though some clinically relevant bacteria have been shown ... ...

    Abstract Wastewater treatment plants (WWTPs) are relevant sources of antibiotic resistance into aquatic environments. Disinfection of WWTPs' effluents (e.g. by UV-C irradiation) may attenuate this problem, though some clinically relevant bacteria have been shown to survive disinfection. In this study we characterized 25 CTX-M-producing Escherichia coli strains isolated from a WWTP's UV-C-irradiated effluent, aiming to identify putative human health hazards associated with such effluents. Molecular typing indicated that the strains belong to the phylogroups A, B2 and C and clustered into 9 multilocus sequence types (STs), namely B2:ST131 (n = 7), A:ST58 (n = 1), A:ST155 (n = 4), C:ST410 (n = 2), A:ST453 (n = 2), A:ST617 (n = 2), A:ST744 (n = 1), A:ST1284 (n = 3) and a putative novel ST (n = 3). PCR-screening identified 9 of the 20 antibiotic resistance genes investigated [i.e. sul1, sul2, sul3, tet(A), tet(B), bla
    MeSH term(s) Animals ; Anti-Bacterial Agents/pharmacology ; Chlorocebus aethiops ; Drug Resistance, Multiple, Bacterial ; Escherichia coli/genetics ; Escherichia coli Infections ; Humans ; Microbial Sensitivity Tests ; Phenotype ; Plasmids ; Vero Cells ; Waste Water/analysis ; beta-Lactamases/genetics
    Chemical Substances Anti-Bacterial Agents ; Waste Water ; beta-Lactamases (EC 3.5.2.6)
    Language English
    Publishing date 2020-07-11
    Publishing country England
    Document type Journal Article
    ZDB-ID 202613-2
    ISSN 1879-2448 ; 0043-1354
    ISSN (online) 1879-2448
    ISSN 0043-1354
    DOI 10.1016/j.watres.2020.116079
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Bonn / Germany

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  5. Article: Genotypic and phenotypic traits of blaCTX-M-carrying Escherichia coli strains from an UV-C-treated wastewater effluent

    Tavares, Rafael D.S / Tacão, Marta / Figueiredo, Ana S / Duarte, Ana S / Esposito, Fernanda / Lincopan, Nilton / Manaia, Célia M / Henriques, Isabel

    Water research. 2020 Oct. 01, v. 184

    2020  

    Abstract: Wastewater treatment plants (WWTPs) are relevant sources of antibiotic resistance into aquatic environments. Disinfection of WWTPs’ effluents (e.g. by UV-C irradiation) may attenuate this problem, though some clinically relevant bacteria have been shown ... ...

    Abstract Wastewater treatment plants (WWTPs) are relevant sources of antibiotic resistance into aquatic environments. Disinfection of WWTPs’ effluents (e.g. by UV-C irradiation) may attenuate this problem, though some clinically relevant bacteria have been shown to survive disinfection. In this study we characterized 25 CTX-M-producing Escherichia coli strains isolated from a WWTP’s UV-C-irradiated effluent, aiming to identify putative human health hazards associated with such effluents. Molecular typing indicated that the strains belong to the phylogroups A, B2 and C and clustered into 9 multilocus sequence types (STs), namely B2:ST131 (n = 7), A:ST58 (n = 1), A:ST155 (n = 4), C:ST410 (n = 2), A:ST453 (n = 2), A:ST617 (n = 2), A:ST744 (n = 1), A:ST1284 (n = 3) and a putative novel ST (n = 3). PCR-screening identified 9 of the 20 antibiotic resistance genes investigated [i.e. sul1, sul2, sul3, tet(A), tet(B), blaOXA₋₁₋ₗᵢₖₑ, aacA4, aacA4-cr and qnrS1]. The more prevalent were sul1, sul2 (n = 15 isolates) and tet(A) (n = 14 isolates). Plasmid restriction analysis indicated diverse plasmid content among strains (14 distinct profiles) and mating assays yielded cefotaxime-resistant transconjugants for 8 strains. Two of the transconjugants displayed a multi-drug resistance (MDR) phenotype. All strains were classified as cytotoxic to Vero cells (9 significantly more cytotoxic than the positive control) and 10 of 21 strains were invasive towards this cell line (including all B2:ST131 strains). The 10 strains tested against G. mellonella larvae exhibited a virulent behaviour. Twenty-four and 7 of the 25 strains produced siderophores and haemolysins, respectively. Approximately 66% of the strains formed biofilms. Genome analysis of 6 selected strains identified several virulence genes encoding toxins, siderophores, and colonizing, adhesion and invasion factors. Freshwater microcosms assays showed that after 28 days of incubation 3 out of 6 strains were still detected by cultivation and 4 strains by qPCR. Resistance phenotypes of these strains remained unaltered. Overall, we confirmed WWTP’s UV-C-treated outflow as a source of MDR and/or virulent E. coli strains, some probably capable of persisting in freshwater, and that carry conjugative antibiotic resistance plasmids. Hence, disinfected wastewater may still represent a risk for human health. More detailed evaluation of strains isolated from wastewater effluents is urgent, to design treatments that can mitigate the release of such bacteria.
    Keywords Escherichia coli ; adhesion ; antibiotic resistance ; biofilm ; cell lines ; cytotoxicity ; disinfection ; freshwater ; hemolysins ; human health ; irradiation ; multilocus sequence typing ; multiple drug resistance ; phenotype ; plasmids ; research ; risk ; siderophores ; virulence ; wastewater ; wastewater treatment
    Language English
    Dates of publication 2020-1001
    Publishing place Elsevier Ltd
    Document type Article
    Note NAL-AP-2-clean
    ZDB-ID 202613-2
    ISSN 1879-2448 ; 0043-1354
    ISSN (online) 1879-2448
    ISSN 0043-1354
    DOI 10.1016/j.watres.2020.116079
    Database NAL-Catalogue (AGRICOLA)

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    In stock of ZB MED Bonn / Germany

    Z 78/260: Show issues
    Z 3381: Show issues

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