المؤلفون: Montpeyó Garcia-Moreno, Marta

Thesis Advisors: Martínez Vicente, Marta, Lizcano de Vega, José Miguel

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Funció lisosomal, Lysosomal function, Funcion lisosomal, Malaltia de Parkinson, Parkinson's disease, Enfermedad de Parkinson, Xaperones farmacològiques, Pharmacological chaperones, Chaperonas farmacológicas, Ciències de la Salut

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/693122

المؤلفون: Ya-Juan Wang, Hailey Seibert, Lucie Y. Ahn, Ashleigh E. Schaffer, Ting-Wei Mu

المصدر: Pharmacological Research, Vol 208, Iss , Pp 107356- (2024)

مصطلحات موضوعية: Pharmacological chaperones, GABAA receptors, Epilepsy, iPSC, Proteostasis, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1043661824003013; https://doaj.org/toc/1096-1186

URL الوصول: https://doaj.org/article/7b37f9d84fe544c290db0fec354b5c63

المؤلفون: Huang-Yi Li, Hung-Yi Lin, Sheng-Kai Chang, Yu-Ting Chiu, Chung-Chien Hou, Tzu-Ping Ko, Kai-Fa Huang, Dau-Ming Niu, Wei-Chieh Cheng

مصطلحات موضوعية: Biophysics, Biochemistry, Cell Biology, Genetics, Molecular Biology, Physiology, Pharmacology, Inorganic Chemistry, Chemical Sciences not elsewhere classified, vicinal ammonium cations, two carboxyl residues, stabilize specific enzymes, stabilization using x, previous study found, findings suggest amino, demonstrated promising results, bifurcated salt bridges, >- substituted derivatives, providing new insights, dibasic polyhydroxylated pyrrolidine, physiological ph remains, exhibited superior ph, selective inhibitory activity, monobasic parent molecule, 20 , selective pharmacological chaperones, induced denaturation assays, 5 , pharmacological chaperones, n <

Relation: https://figshare.com/articles/journal_contribution/Mechanistic_Insights_into_Dibasic_Iminosugars_as_pH-Selective_Pharmacological_Chaperones_to_Stabilize_Human_Galactosidase/25276271

الاتاحة: https://doi.org/10.1021/jacsau.3c00684.s001
https://figshare.com/articles/journal_contribution/Mechanistic_Insights_into_Dibasic_Iminosugars_as_pH-Selective_Pharmacological_Chaperones_to_Stabilize_Human_Galactosidase/25276271

المؤلفون: Guido Veit, Michinori Matsuo, Tsukasa Okiyoneda

المصدر: Frontiers in Pharmacology, Vol 15 (2024)

مصطلحات موضوعية: ABC transporters, CFTR (cystic fibrosis transmembrane conductance regulator), pharmacological chaperones, missense mutations, premature termination codon (PTC), Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2024.1423979/full; https://doaj.org/toc/1663-9812

URL الوصول: https://doaj.org/article/7d9167ebf42f4eb493a4889e34ee602c

المؤلفون: Feda E. Mohamed, Fatma Al-Jasmi

المصدر: Frontiers in Pharmacology, Vol 15 (2024)

مصطلحات موضوعية: Gaucher disease, inborn error of metabolism, sphingolipidoses, Ambroxol, pharmacological chaperones, glucocerebrosidase enzyme, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2024.1335058/full; https://doaj.org/toc/1663-9812

URL الوصول: https://doaj.org/article/6ae9e38231fa4a50848e3643ca80e7a6

المؤلفون: Clemente, Francesca, Martínez Bailén, Macarena, Matassini, Camilla, Morrone, Amelia, Falliano, Silvia, Caciotti, Anna, Paoli, Paolo, Goti, Andrea, Cardona, Francesca

المساهمون: Universidad de Sevilla. Departamento de Química Orgánica y Farmacéutica

مصطلحات موضوعية: Iminosugars, β-galactosidase inhibitors, GM1 gangliosidosis, GLB1, Pharmacological chaperones, Nitrones, Grignard reagents, Reductive amination

Relation: Molecules, 27 (13), 4008.; https://doi.org/10.3390/molecules27134008; https://idus.us.es/handle//11441/162194

الاتاحة: https://idus.us.es/handle//11441/162194

المؤلفون: Martínez Bailén, Macarena, Clemente, Francesca, Matassini, Camilla, Cardona, Francesca

المساهمون: Universidad de Sevilla. Departamento de Química Orgánica y Farmacéutica

مصطلحات موضوعية: Gaucher disease, Lysosomal storage disorders, Pharmacological chaperones, Allosteric chaperones, Iminosugars, Parkinson disease

Relation: Pharmaceuticals, 15 (7), 823.; https://doi.org/10.3390/ph15070823; https://idus.us.es/handle//11441/162192

الاتاحة: https://idus.us.es/handle//11441/162192

المؤلفون: Gallego Martínez, Diana, Serrano, Mercedes, Córdoba-Caballero, José, Gámez Abascal, María Alejandra, Seoane Zonjic, Pedro, Perkins, James R., García Ranea, Juan Antonio, Pérez González, María Belén

المساهمون: UAM. Departamento de Biología Molecular

مصطلحات موضوعية: PMM2-CDG, RNA-Seq, Patient-Derived Fibroblasts, Transcriptomics, Systems Biology, Pharmacological Chaperones, Drug Repurposing, Biología y Biomedicina / Biología

وصف الملف: application/pdf

Relation: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease; https://doi.org/10.1016/j.bbadis.2024.167163; Gobierno de España. PID2019-108096RB-C21; Gobierno de España. PID2022-140047OB-C21; info:eu-repo/grantAgreement/EC/HE/101080580/EU//EURAS; http://hdl.handle.net/10486/712328; 1870

الاتاحة: http://hdl.handle.net/10486/712328
https://doi.org/10.1016/j.bbadis.2024.167163

المؤلفون: Jung-KC, Kunwar, Tristán-Noguero, Alba, Altankhuyag, Altanchimeg, Piñol Belenguer, David, PrestegÃ¥rd, Karina S., Fernandez-Carasa, Irene, Colini Baldeschi, Arianna, Sigatulina Bondarenko, Maria, García-Cazorla, Angeles, Consiglio, Antonella, Martinez, Aurora, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Dopamine, Ipsc-derived neurons, Mice model, Pharmacological chaperones, Tetrahydrobiopterin (BH4), Tyrosine hydroxylase deficiency (THD)

وصف الملف: application/pdf

Relation: Agència de Gestió d'Ajuts Universitaris i de Recerca 2017-SGR-899; European Research Council 2012-StG-311736-PD-HUMMODEL; Ministerio de Economía y Competitividad RTI2018-095377-B-100; Ministerio de Economía y Competitividad PID2019-108792-GB-I00; Instituto de Salud Carlos III TerCel RD16/0011/0024; Instituto de Salud Carlos III FIS FI21/00073; Agencia Estatal de Investigación CEX2018-000792-M; Fundació la Marató de TV3 202012-31; Fundació la Marató de TV3 202012-32; Fundació la Marató de TV3 202012-33; Journal of Inherited Metabolic Disease; Vol. 47 Núm. 3 (may 2024), p. 494-508; https://ddd.uab.cat/record/298686; urn:10.1002/jimd.12702; urn:oai:ddd.uab.cat:298686; urn:scopus_id:85181675067; urn:articleid:15732665v47n3p494; urn:pmid:38196161

الاتاحة: https://ddd.uab.cat/record/298686

المؤلفون: Davighi, Maria Giulia, Matassini, Camilla, Clemente, Francesca, Paoli, Paolo, Morrone, Amelia, Cacciarini, Martina, Goti, Andrea, Cardona, Francesca

المصدر: Davighi , M G , Matassini , C , Clemente , F , Paoli , P , Morrone , A , Cacciarini , M , Goti , A & Cardona , F 2024 , ' pH-Responsive Trihydroxylated Piperidines Rescue The Glucocerebrosidase Activity in Human Fibroblasts Bearing The Neuronopathic Gaucher-Related L444P/L444P Mutations in GBA1 Gene ' , ChemBioChem , vol. 25 , no. 1 , e202300730 . https://doi.org/10.1002/cbic.202300730

مصطلحات موضوعية: glycomimetic, iminosugar, inhibitor, pH-responsive, pharmacological chaperones

وصف الملف: application/pdf

الاتاحة: https://researchprofiles.ku.dk/da/publications/phresponsive-trihydroxylated-piperidines-rescue-the-glucocerebrosidase-activity-in-human-fibroblasts-bearing-the-neuronopathic-gaucherrelated-l444pl444p-mutations-in-gba1-gene(3a67d889-08d5-44be-82aa-cfe3167f904b).html
https://doi.org/10.1002/cbic.202300730
https://curis.ku.dk/ws/files/379256319/ChemBioChem_2023_Davighi_pH_Responsive_Trihydroxylated_Piperidines_Rescue_The_Glucocerebrosidase_Activity_in_Human.pdf

المؤلفون: Tran, My Lan, Borie-Guichot, Marc, Garcia, Virginie, Oukhrib, Abdelouahd, Génisson, Yves, Levade, Thierry, Ballereau, Stéphanie, Turrin, Cédric-Olivier, Dehoux, Cécile

المساهمون: Synthèse et Physico-Chimie de Molécules d'Intérêt Biologique (SPCMIB), Institut de Chimie de Toulouse (ICT), Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Laboratoire de chimie de coordination (LCC), Centre de Recherches en Cancérologie de Toulouse (CRCT), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Association "Vaincre les Maladies Lysosomales", Université Paul Sabatier

المصدر: ISSN: 0947-6539.

مصطلحات موضوعية: Dendrimers, Copper-free click reaction, Inhibitors, Lysosomal storage diseases, Pharmacological chaperones, [CHIM.THER]Chemical Sciences/Medicinal Chemistry

الاتاحة: https://hal.science/hal-04175496
https://hal.science/hal-04175496v1/document
https://hal.science/hal-04175496v1/file/Tran,%20Phosphorus%20dendrimers%20for%20metal-free,%202023.pdf
https://doi.org/10.1002/chem.202301210

المؤلفون: Lopes, Raquel R., Tomé, Catarina S., Russo, Roberto, Paterna, Roberta, Leandro, João, Candeias, Nuno R., Gonçalves, Lídia, Teixeira, Miguel, Sousa, Pedro M. F., Guedes, R. C., Vicente, João B., Gois, Pedro M. P., Leandro, Paula

مصطلحات موضوعية: protein misfolding, drug discovery, inherited metabolic disorders, protein drug interactions, pharmacological chaperones, activity chaperones

Relation: info:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FEBB-BIO%2F101237%2F2008/PT; UIDB/04138/2020; UIDP/04138/2020; PTDC/MED-QUI/29712/2017; PTDC/QUI-QOR/29967/2017; CEECIND/03143/2017; https://www.mdpi.com/2218-273X/11/3/462; Lopes RR, Tomé CS, Russo R, Paterna R, Leandro J, Candeias NR, et al. Modulation of Human Phenylalanine Hydroxylase by 3-Hydroxyquinolin-2(1H)-One Derivatives. Biomolecules [Internet]. 2021 Mar 19;11(3):462. Available from: http://dx.doi.org/10.3390/biom11030462; http://hdl.handle.net/10451/59289; cv-prod-2779251

الاتاحة: http://hdl.handle.net/10451/59289
https://doi.org/10.3390/biom11030462

المؤلفون: Alena E. Kopytova, George N. Rychkov, Alexander A. Cheblokov, Elena V. Grigor’eva, Mikhail A. Nikolaev, Elena S. Yarkova, Diana A. Sorogina, Farid M. Ibatullin, Galina V. Baydakova, Artem D. Izyumchenko, Daria A. Bogdanova, Vitali M. Boitsov, Akim V. Rybakov, Irina V. Miliukhina, Vadim A. Bezrukikh, Galina N. Salogub, Ekaterina Y. Zakharova, Sofya N. Pchelina, Anton K. Emelyanov

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 10; Pages: 9105

مصطلحات موضوعية: pharmacological chaperones, Parkinson’s disease, Gaucher disease, glucocerebrosidase, non-inhibitory chaperones, allosteric binding site, binding free energy, iPSC-derived dopaminergic neurons

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Neurobiology; https://dx.doi.org/10.3390/ijms24109105

الاتاحة: https://doi.org/10.3390/ijms24109105

المؤلفون: Daniela Grasso, Silvia Galderisi, Annalisa Santucci, Andrea Bernini

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 6; Pages: 5819

مصطلحات موضوعية: pharmacological chaperones, protein conformational diseases, computational structural biology, protein stability, transient pockets, pocket druggability, drug repurposing, virtual screening, molecular docking

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Informatics; https://dx.doi.org/10.3390/ijms24065819

الاتاحة: https://doi.org/10.3390/ijms24065819

المؤلفون: Clemente, Francesca, Davighi, Maria Giulia, Matassini, Camilla, Cardona, Francesca, Goti, Andrea, Morrone, Amelia, Paoli, Paolo, Tejero, Tomás, Merino, Pedro, Cacciarini, Martina

المصدر: Clemente , F , Davighi , M G , Matassini , C , Cardona , F , Goti , A , Morrone , A , Paoli , P , Tejero , T , Merino , P & Cacciarini , M 2023 , ' Light-Triggered Control of Glucocerebrosidase Inhibitors : Towards Photoswitchable Pharmacological Chaperones ' , Chemistry - A European Journal , vol. 29 , no. 19 , e202203841 . https://doi.org/10.1002/chem.202203841

مصطلحات موضوعية: gaucher disease, glycomimetics, molecular dynamics, pharmacological chaperones, photoswitches

وصف الملف: application/pdf

الاتاحة: https://researchprofiles.ku.dk/da/publications/lighttriggered-control-of-glucocerebrosidase-inhibitors(5cfc2f77-a077-4622-9a50-242baebf34b0).html
https://doi.org/10.1002/chem.202203841
https://curis.ku.dk/ws/files/342567381/PDFsam_Chemistry_A_European_J_2023_Clemente_Light_Triggered_Control_of_Glucocerebrosidase_Inhibitors_Towards.pdf

المؤلفون: Anselmo, Carolina Maria Batista

المساهمون: Leandro, Ana Paula Costa dos Santos Peralta, Ventura, Fatima, Repositório da Universidade de Lisboa

مصطلحات موضوعية: Inborn errors of metabolism, Mitochondrial fatty acid β-oxidation, Medium-chain acyl-CoA dehydrogenase deficiency, Electron-transferring flavoprotein, Pharmacological chaperones, Conformational disorders, Teses de mestrado - 2021, Ciências da Saúde

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10451/54109

المؤلفون: Costa, Rita de Sousa Saraiva da

المساهمون: Leandro, Ana Paula Costa dos Santos Peralta, Tomé, Catarina da Silveira, Repositório da Universidade de Lisboa

مصطلحات موضوعية: Pharmacological chaperones, Activity chaperones IEM, Misfolding, 3-HQ, Teses de mestrado - 2021, Ciências da Saúde

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10451/54108

المؤلفون: Alfredo Ulloa-Aguirre, Teresa Zariñán, Rubén Gutiérrez-Sagal, Ya-Xiong Tao

المصدر: Frontiers in Endocrinology, Vol 13 (2022)

مصطلحات موضوعية: G protein-coupled receptors, GPCRs, intracellular trafficking, quality control system, molecular chaperones, pharmacological chaperones, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.934685/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/4c426124718049e9b919b63e9603f9d3

المؤلفون: Angelo Felline, Davide Schiroli, Antonella Comitato, Valeria Marigo, Francesca Fanelli

المصدر: Computational and Structural Biotechnology Journal, Vol 19, Iss , Pp 6020-6038 (2021)

مصطلحات موضوعية: Molecular simulations, Protein structure network, Conformational diseases, GPCRs, Rhodopsin, Pharmacological chaperones, Biotechnology, TP248.13-248.65

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2001037021004621; https://doaj.org/toc/2001-0370

URL الوصول: https://doaj.org/article/6b05cf102d514fdb81a8be978d6899c1

المؤلفون: McDonald, Eli Fritz, Woods, Hope, Smith, Shannon T., Kim, Minsoo, Schröder, Clara T., Plate, Lars, Meiler, Jens

مصطلحات موضوعية: cystic fibrosis, comparative modeling, computational protein modeling, protein folding disease, pharmacological chaperones, VX-809, structure-based drug discovery, info:eu-repo/classification/ddc/610, ddc:610

Relation: 471

الاتاحة: https://ul.qucosa.de/id/qucosa%3A85994
https://ul.qucosa.de/api/qucosa%3A85994/attachment/ATT-0/