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Modulation of human phenylalanine hydroxylase by 3-hydroxyquinolin-2(1h)-one derivatives

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Resumo:Phenylketonuria (PKU) is a genetic disease caused by deficient activity of human pheny-lalanine hydroxylase (hPAH) that, when untreated, can lead to severe psychomotor impairment. Protein misfolding is recognized as the main underlying pathogenic mechanism of PKU. Therefore, the use of stabilizers of protein structure and/or activity is an attractive therapeutic strategy for this condition. Here, we report that 3-hydroxyquinolin-2(1H)-one derivatives can act as protectors of hPAH enzyme activity. Electron paramagnetic resonance spectroscopy demonstrated that the 3-hydroxyquinolin-2(1H)-one compounds affect the coordination of the non-heme ferric center at the enzyme active-site. Moreover, surface plasmon resonance studies showed that these stabilizing compounds can be outcompeted by the natural substrate L-phenylalanine. Two of the designed compounds functionally stabilized hPAH by maintaining protein activity. This effect was observed on the recombinant purified protein and in a cellular model. Besides interacting with the catalytic iron, one of the compounds also binds to the N-terminal regulatory domain, although to a different location from the allosteric L-Phe binding site, as supported by the solution structures obtained by small-angle X-ray scattering.
Autores principais:Lopes, Raquel R.
Outros Autores:Tomé, Catarina S.; Russo, Roberto; Paterna, Roberta; Leandro, João; Candeias, Nuno R.; Gonçalves, Lídia M.D.; Teixeira, Miguel; Sousa, Pedro M.F.; Guedes, Rita C.; Vicente, João B.; Gois, Pedro M.P.; Leandro, Paula
Assunto:Activity chaperones Drug discovery Inherited metabolic disorders Pharmacological chaperones Protein drug interactions Protein misfolding Biochemistry Molecular Biology SDG 3 - Good Health and Well-being
Ano:2021
País:Portugal
Tipo de documento:artigo
Tipo de acesso:acesso aberto
Instituição associada:Universidade Nova de Lisboa
Idioma:inglês
Origem:Repositório Institucional da UNL
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author Lopes, Raquel R.
author2 Tomé, Catarina S.
Russo, Roberto
Paterna, Roberta
Leandro, João
Candeias, Nuno R.
Gonçalves, Lídia M.D.
Teixeira, Miguel
Sousa, Pedro M.F.
Guedes, Rita C.
Vicente, João B.
Gois, Pedro M.P.
Leandro, Paula
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author_facet Lopes, Raquel R.
Tomé, Catarina S.
Russo, Roberto
Paterna, Roberta
Leandro, João
Candeias, Nuno R.
Gonçalves, Lídia M.D.
Teixeira, Miguel
Sousa, Pedro M.F.
Guedes, Rita C.
Vicente, João B.
Gois, Pedro M.P.
Leandro, Paula
author_role author
contributor_name_str_mv Instituto de Tecnologia Química e Biológica António Xavier (ITQB)
MDPI - Multidisciplinary Digital Publishing Institute
RUN
country_str PT
creators_json_txt [{\"Person.name\":\"Lopes, Raquel R.\"},{\"Person.name\":\"Tomé, Catarina S.\"},{\"Person.name\":\"Russo, Roberto\"},{\"Person.name\":\"Paterna, Roberta\"},{\"Person.name\":\"Leandro, João\"},{\"Person.name\":\"Candeias, Nuno R.\"},{\"Person.name\":\"Gonçalves, Lídia M.D.\"},{\"Person.name\":\"Teixeira, Miguel\"},{\"Person.name\":\"Sousa, Pedro M.F.\"},{\"Person.name\":\"Guedes, Rita C.\"},{\"Person.name\":\"Vicente, João B.\"},{\"Person.name\":\"Gois, Pedro M.P.\"},{\"Person.name\":\"Leandro, Paula\"}]
datacite.contributors.contributor.contributorName.fl_str_mv Instituto de Tecnologia Química e Biológica António Xavier (ITQB)
MDPI - Multidisciplinary Digital Publishing Institute
RUN
datacite.creators.creator.creatorName.fl_str_mv Lopes, Raquel R.
Tomé, Catarina S.
Russo, Roberto
Paterna, Roberta
Leandro, João
Candeias, Nuno R.
Gonçalves, Lídia M.D.
Teixeira, Miguel
Sousa, Pedro M.F.
Guedes, Rita C.
Vicente, João B.
Gois, Pedro M.P.
Leandro, Paula
datacite.date.Accepted.fl_str_mv 2021-03-01T00:00:00Z
datacite.date.available.fl_str_mv 2021-07-09T22:18:00Z
datacite.date.embargoed.fl_str_mv 2021-07-09T22:18:00Z
datacite.rights.fl_str_mv http://purl.org/coar/access_right/c_abf2
datacite.subjects.subject.fl_str_mv Activity chaperones
Drug discovery
Inherited metabolic disorders
Pharmacological chaperones
Protein drug interactions
Protein misfolding
Biochemistry
Molecular Biology
SDG 3 - Good Health and Well-being
datacite.titles.title.fl_str_mv Modulation of human phenylalanine hydroxylase by 3-hydroxyquinolin-2(1h)-one derivatives
dc.contributor.none.fl_str_mv Instituto de Tecnologia Química e Biológica António Xavier (ITQB)
MDPI - Multidisciplinary Digital Publishing Institute
RUN
dc.creator.none.fl_str_mv Lopes, Raquel R.
Tomé, Catarina S.
Russo, Roberto
Paterna, Roberta
Leandro, João
Candeias, Nuno R.
Gonçalves, Lídia M.D.
Teixeira, Miguel
Sousa, Pedro M.F.
Guedes, Rita C.
Vicente, João B.
Gois, Pedro M.P.
Leandro, Paula
dc.date.Accepted.fl_str_mv 2021-03-01T00:00:00Z
dc.date.available.fl_str_mv 2021-07-09T22:18:00Z
dc.date.embargoed.fl_str_mv 2021-07-09T22:18:00Z
dc.format.none.fl_str_mv application/pdf
dc.identifier.none.fl_str_mv http://hdl.handle.net/10362/120790
dc.language.none.fl_str_mv eng
dc.rights.none.fl_str_mv http://purl.org/coar/access_right/c_abf2
dc.subject.none.fl_str_mv Activity chaperones
Drug discovery
Inherited metabolic disorders
Pharmacological chaperones
Protein drug interactions
Protein misfolding
Biochemistry
Molecular Biology
SDG 3 - Good Health and Well-being
dc.title.fl_str_mv Modulation of human phenylalanine hydroxylase by 3-hydroxyquinolin-2(1h)-one derivatives
dc.type.none.fl_str_mv http://purl.org/coar/resource_type/c_6501
description Phenylketonuria (PKU) is a genetic disease caused by deficient activity of human pheny-lalanine hydroxylase (hPAH) that, when untreated, can lead to severe psychomotor impairment. Protein misfolding is recognized as the main underlying pathogenic mechanism of PKU. Therefore, the use of stabilizers of protein structure and/or activity is an attractive therapeutic strategy for this condition. Here, we report that 3-hydroxyquinolin-2(1H)-one derivatives can act as protectors of hPAH enzyme activity. Electron paramagnetic resonance spectroscopy demonstrated that the 3-hydroxyquinolin-2(1H)-one compounds affect the coordination of the non-heme ferric center at the enzyme active-site. Moreover, surface plasmon resonance studies showed that these stabilizing compounds can be outcompeted by the natural substrate L-phenylalanine. Two of the designed compounds functionally stabilized hPAH by maintaining protein activity. This effect was observed on the recombinant purified protein and in a cellular model. Besides interacting with the catalytic iron, one of the compounds also binds to the N-terminal regulatory domain, although to a different location from the allosteric L-Phe binding site, as supported by the solution structures obtained by small-angle X-ray scattering.
dirty 0
eu_rights_str_mv openAccess
format article
fulltext.url.fl_str_mv https://run.unl.pt/bitstreams/dffb1e9b-0e24-42ea-a15c-29ae5e1a86d1/download
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identifier.url.fl_str_mv http://hdl.handle.net/10362/120790
instacron_str unl
institution Universidade Nova de Lisboa
instname_str Universidade Nova de Lisboa
language eng
network_acronym_str run
network_name_str Repositório Institucional da UNL
oai_identifier_str oai:run.unl.pt:10362/120790
organization_str_mv urn:organizationAcronym:unl
person_str_mv Lopes, Raquel R.
Tomé, Catarina S.
Russo, Roberto
Paterna, Roberta
Leandro, João
Candeias, Nuno R.
Gonçalves, Lídia M.D.
Teixeira, Miguel
Sousa, Pedro M.F.
Guedes, Rita C.
Vicente, João B.
Gois, Pedro M.P.
Leandro, Paula
publishDate 2021
reponame_str Repositório Institucional da UNL
repository_id_str urn:repositoryAcronym:run
service_str_mv urn:repositoryAcronym:run
spelling engenPhenylketonuria (PKU) is a genetic disease caused by deficient activity of human pheny-lalanine hydroxylase (hPAH) that, when untreated, can lead to severe psychomotor impairment. Protein misfolding is recognized as the main underlying pathogenic mechanism of PKU. Therefore, the use of stabilizers of protein structure and/or activity is an attractive therapeutic strategy for this condition. Here, we report that 3-hydroxyquinolin-2(1H)-one derivatives can act as protectors of hPAH enzyme activity. Electron paramagnetic resonance spectroscopy demonstrated that the 3-hydroxyquinolin-2(1H)-one compounds affect the coordination of the non-heme ferric center at the enzyme active-site. Moreover, surface plasmon resonance studies showed that these stabilizing compounds can be outcompeted by the natural substrate L-phenylalanine. Two of the designed compounds functionally stabilized hPAH by maintaining protein activity. This effect was observed on the recombinant purified protein and in a cellular model. Besides interacting with the catalytic iron, one of the compounds also binds to the N-terminal regulatory domain, although to a different location from the allosteric L-Phe binding site, as supported by the solution structures obtained by small-angle X-ray scattering.application/pdfenModulation of human phenylalanine hydroxylase by 3-hydroxyquinolin-2(1h)-one derivativesLopes, Raquel R.Tomé, Catarina S.Russo, RobertoPaterna, RobertaLeandro, JoãoCandeias, Nuno R.Gonçalves, Lídia M.D.Teixeira, MiguelSousa, Pedro M.F.Guedes, Rita C.Vicente, João B.Gois, Pedro M.P.Leandro, PaulaInstituto de Tecnologia Química e Biológica António Xavier (ITQB)MDPI - Multidisciplinary Digital Publishing InstituteHostingInstitutionOrganizationalRUNe-mailmailto:run@unl.ptrun@unl.ptISSNIsPartOf2218-273XURNIsPartOfPURE: 32441039URNIsPartOfPURE UUID: 729f9ed4-3c3a-4718-94fd-0b0df7bb469eURNIsPartOfScopus: 85102718258URNIsPartOfPubMed: 33808760DOIIsPartOf10.3390/biom110304622021-07-09T22:18:00Z2021-032021-03-01T00:00:00ZHandlehttp://hdl.handle.net/10362/120790http://purl.org/coar/access_right/c_abf2open accessActivity chaperonesDrug discoveryInherited metabolic disordersPharmacological chaperonesProtein drug interactionsProtein misfoldingBiochemistryMolecular BiologySDG 3 - Good Health and Well-being48517266 bytesliteraturehttp://purl.org/coar/resource_type/c_6501journal articlehttp://purl.org/coar/access_right/c_abf2application/pdffulltexthttps://run.unl.pt/bitstreams/dffb1e9b-0e24-42ea-a15c-29ae5e1a86d1/download
spellingShingle Modulation of human phenylalanine hydroxylase by 3-hydroxyquinolin-2(1h)-one derivatives
Lopes, Raquel R.
Activity chaperones
Drug discovery
Inherited metabolic disorders
Pharmacological chaperones
Protein drug interactions
Protein misfolding
Biochemistry
Molecular Biology
SDG 3 - Good Health and Well-being
status SINGLETON
subject.fl_str_mv Activity chaperones
Drug discovery
Inherited metabolic disorders
Pharmacological chaperones
Protein drug interactions
Protein misfolding
Biochemistry
Molecular Biology
SDG 3 - Good Health and Well-being
title Modulation of human phenylalanine hydroxylase by 3-hydroxyquinolin-2(1h)-one derivatives
title_full Modulation of human phenylalanine hydroxylase by 3-hydroxyquinolin-2(1h)-one derivatives
title_fullStr Modulation of human phenylalanine hydroxylase by 3-hydroxyquinolin-2(1h)-one derivatives
title_full_unstemmed Modulation of human phenylalanine hydroxylase by 3-hydroxyquinolin-2(1h)-one derivatives
title_short Modulation of human phenylalanine hydroxylase by 3-hydroxyquinolin-2(1h)-one derivatives
title_sort Modulation of human phenylalanine hydroxylase by 3-hydroxyquinolin-2(1h)-one derivatives
topic Activity chaperones
Drug discovery
Inherited metabolic disorders
Pharmacological chaperones
Protein drug interactions
Protein misfolding
Biochemistry
Molecular Biology
SDG 3 - Good Health and Well-being
topic_facet Activity chaperones
Drug discovery
Inherited metabolic disorders
Pharmacological chaperones
Protein drug interactions
Protein misfolding
Biochemistry
Molecular Biology
SDG 3 - Good Health and Well-being
url http://hdl.handle.net/10362/120790
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