المؤلفون: Cospain, Auriane, Rivera-Barahona, Ana, Dumontet, Erwan, Gener, Blanca, Bailleul-Forestier, Isabelle, Meyts, Isabelle, Jouret, Guillaume, Isidor, Bertrand, Brewer, Carole, Wuyts, Wim, Moens, Leen, Delafontaine, Selket, Keung Lam, Wayne Wing, van den Bogaert, Kris, Boogaerts, Anneleen, Scalais, Emmanuel, Besnard, Thomas, Cogne, Benjamin, Guissard, Christophe, Rollier, Paul, Carre, Wilfrid, Bouvet, Regis, Tarte, Karin, Gómez-Carmona, Ricardo, Lapunzina, Pablo, Odent, Sylvie, Faoucher, Marie, Dubourg, Christele, Ruiz-Pérez, Víctor, Devriendt, Koen, Pasquier, Laurent, Pérez-Jurado, Luis

المساهمون: Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Centre de référence Maladies Rares CLAD-Ouest Rennes, Universidad Autónoma de Madrid (UAM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Department of Microbiology, Immunology and Transplantation Leuven, Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), University Hospitals Leuven Leuven, Laboratoire National de Santé Luxembourg (LNS), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Institut du Thorax Nantes, Antwerp University Hospital Edegem (UZA), Centre Hospitalier de Luxembourg Luxembourg (CHL), Geroscience and rejuvenation research center (RESTORE), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Microenvironment and B-cells: Immunopathology,Cell Differentiation, and Cancer (MOBIDIC), Université de Rennes (UR)-Etablissement français du sang Rennes (EFS Bretagne)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Universitat Pompeu Fabra Barcelona (UPF), Research reported in this publication was supported by the CatalonianDepartment of Health (URDCAT: Grant SLT002/16/00174) and the ENoD Programme of CIBERER(ER16P08), Instituto de Salud Carlos III. Selket Delafontaine is supported by the personal FWO Grant11F4421N. Isabelle Meyts is a Senior Clinical Investigator at the Research Foundation – Flanders, andis supported by the CSL Behring Chair of Primary Immunodeficiencies, by the KU Leuven C1 GrantC16/18/007, by a VIB GC PID Grant, by the FWO Grants G0C8517N, G0B5120N and G0E8420N and bythe Jeffrey Modell Foundation. Part of this work was supported by a grant from the Spanish Ministryof Science and Innovation (PID2019-105620RB-I00/AEI/10.13039/501100011033). The project hasalso received funding from the European Research Council (ERC) under the European Union’s Horizon2020 research and innovation programme (grant agreement No. 948959). This work is supported byERN-RITA.LAPJ is founding partner and scientific advisor of qGenomics Laboratories. The remaining authorsdeclare no potential conflict of interest.

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: AP-1 complex, Adams-Oliver syndrome, Aplasia cutis congenita of scalp, Enamel hypoplasia, FOSL2, FOSL2 FRA-2 aplasia cutis congenita of scalp enamel hypoplasia AP-1 complex Adams-Oliver syndrome, FRA-2, MESH: Humans, MESH: Scalp, MESH: Autism Spectrum Disorder, MESH: HEK293 Cells, MESH: Transcription Factor AP-1, MESH: Exons, MESH: Ectodermal Dysplasia, MESH: Neurodevelopmental Disorders, MESH: RNA, Messenger, MESH: Fos-Related Antigen-2, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36197437; hal-03954791; https://univ-rennes.hal.science/hal-03954791Test; https://univ-rennes.hal.science/hal-03954791/documentTest; https://univ-rennes.hal.science/hal-03954791/file/Cospain%20et%20al%20-%202022%20-%20FOSL2%20truncating%20variants%20in%20the%20last%20exon.pdfTest; PUBMED: 36197437

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.002Test
https://univ-rennes.hal.science/hal-03954791Test
https://univ-rennes.hal.science/hal-03954791/documentTest
https://univ-rennes.hal.science/hal-03954791/file/Cospain%20et%20al%20-%202022%20-%20FOSL2%20truncating%20variants%20in%20the%20last%20exon.pdfTest

المؤلفون: Laura Casalino, Francesco Talotta, Amelia Cimmino, Pasquale Verde

المصدر: Cancers; Volume 14; Issue 6; Pages: 1480

مصطلحات موضوعية: transcription factor, AP-1 complex, FOSL1, Fos-Related-Antigen-1, therapeutic targeting

وصف الملف: application/pdf

العلاقة: Molecular Cancer Biology; https://dx.doi.org/10.3390/cancers14061480Test

الإتاحة: https://doi.org/10.3390/cancers14061480Test

المؤلفون: Boris Anokhin, Paul Spearman

المصدر: Viruses, Vol 14, Iss 8, p 1729 (2022)

مصطلحات موضوعية: envelope glycoprotein, Gag protein, recycling, endocytosis, AP-2 complex, AP-1 complex, Microbiology, QR1-502

العلاقة: https://www.mdpi.com/1999-4915/14/8/1729Test; https://doaj.org/toc/1999-4915Test; https://doaj.org/article/c453cefa5a7b4b89a04c98a901b55817Test

الإتاحة: https://doi.org/10.3390/v14081729Test
https://doaj.org/article/c453cefa5a7b4b89a04c98a901b55817Test

المؤلفون: Usmani, M.A., Ahmed, Z.M., Pamela, M., Pienkowski, V.M., Rasmussen, K.J., Hernan, R., Rasheed, F., Hussain, M., Shahzad, M., Lanpher, B.C., Niu, Z., Lim, F.Y., Pippucci, T., Ploski, R., Kraus, V., Matuszewska, K., Palombo, F., Kianmahd, J., Martinez-Agosto, J.A., Lee, H., Colao, E., Motazacker, M.M., Brigatti, K.W., Puffenberger, E.G., Riazuddin, S.A., Gonzaga-Jauregui, C., Chung, W.K., Wagner, M., Schultz, M.J., Seri, M., Kievit, A.J.A., Perrotti, N., Wassink-Ruiter, J.S.K., van Bokhoven, H., Riazuddin, S.

المصدر: Am. J. Hum. Genet. 108, 1330-1341 (2021)

مصطلحات موضوعية: Ap-1 Complex, Ap1g1, Pakistani Families, Developmental Delay, Epilepsy, Exome Sequencing, Genetic Heterogeneity, Intellectual Disabilities, Neurodevelopment Disorder

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34102099; info:eu-repo/semantics/altIdentifier/wos/WOS:000668964500012; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62183Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.05.007Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62183Test

المؤلفون: Isha Dey, Neil A. Bradbury

المصدر: Biochemistry and Biophysics Reports, Vol 12, Iss C, Pp 140-150 (2017)

مصطلحات موضوعية: TPA-responsive element, Promoter, LMTK2, AP-1 complex, Phorbol ester, PKC activation, Biology (General), QH301-705.5, Biochemistry, QD415-436

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2405580817301577Test; https://doaj.org/toc/2405-5808Test

الوصول الحر: https://doaj.org/article/ced8ee8bf2d84b6c975a297ce56b19bcTest

المؤلفون: Cospain, A., Rivera-Barahona, A., Dumontet, E., Gener, B., Bailleul-Forestier, I., Meyts, I., Jouret, G., Isidor, B., Brewer, C., Wuyts, W., Moens, L., Delafontaine, S., Keung Lam, W. W., Van Den Bogaert, K., Boogaerts, A., Scalais, E., Besnard, T., Cogne, B., Guissard, C., Rollier, P., Carre, W., Bouvet, R., Tarte, K., Gómez-Carmona, R., Lapunzina, P., Odent, S., Faoucher, M., Dubourg, C., Ruiz-Pérez, V. L., Devriendt, K., Pasquier, L., Pérez-Jurado, L. A.

مصطلحات موضوعية: Humans, Scalp/abnormalities/metabolism, Autism Spectrum Disorder/genetics, HEK293 Cells, Transcription Factor AP-1/genetics, Exons/genetics, Ectodermal Dysplasia/genetics, Neurodevelopmental Disorders/genetics, RNA, Messenger, Fos-Related Antigen-2/genetics, AP-1 complex, Adams-Oliver syndrome, Aplasia cutis congenita of scalp, Enamel hypoplasia, FOSL2, qGenomics Laboratories

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(22)00937-6; Genet Med. 2022 Dec;24(12):2475-2486. doi:10.1016/j.gim.2022.09.002. Epub 2022 Oct 4.; https://rde.dspace-express.com/handle/11287/622737Test; Genetics in medicine

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.002Test
https://rde.dspace-express.com/handle/11287/622737Test

المؤلفون: Victor Murcia Pienkowski, Saima Riazuddin, Matthew J. Schultz, S. Amer Riazuddin, Foong-Yen Lim, Nicola Perrotti, Claudia Gonzaga-Jauregui, Muhammad A. Usmani, Zubair M. Ahmed, Hane Lee, Erik G. Puffenberger, Anneke J.A. Kievit, Tommaso Pippucci, Pamela Magini, Emma Colao, M. Mahdi Motazacker, Rebecca Hernan, Mureed Hussain, Karlla W. Brigatti, Wendy K. Chung, Matias Wagner, Marco Seri, Mohsin Shahzad, Brendan C. Lanpher, Zhiyv Niu, Karolina Matuszewska, Hans van Bokhoven, Faiza Rasheed, J. S. Klein Wassink-Ruiter, Kristen J. Rasmussen, Verena Kraus, Jessica Kianmahd, Julian A. Martinez-Agosto, Flavia Palombo, Rafał Płoski, Sheikh Riazuddin

المساهمون: Human Genetics, ACS - Pulmonary hypertension & thrombosis, ANS - Complex Trait Genetics, Faculteit Medische Wetenschappen/UMCG, Clinical Genetics

المصدر: American Journal of Human Genetics, 108, 1330-1341
American journal of human genetics, 108(7), 1330-1341. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 108, 7, pp. 1330-1341
American Journal of Human Genetics, 108(7), 1330-1341. CELL PRESS
American Journal of Human Genetics, 108(7), 1330-1341. Cell Press
Am. J. Hum. Genet. 108, 1330-1341 (2021)

مصطلحات موضوعية: Male, Ap-1 Complex, Ap1g1, Pakistani Families, Developmental Delay, Epilepsy, Exome Sequencing, Genetic Heterogeneity, Intellectual Disabilities, Neurodevelopment Disorder, Developmental Disabilities, DNA Mutational Analysis, genetic heterogeneity, 0302 clinical medicine, Neurodevelopmental disorder, SIGNALS, BINDING, Missense mutation, Zebrafish, Genetics (clinical), Genetics, 0303 health sciences, biology, Signal transducing adaptor protein, CLATHRIN ADAPTER COMPLEX, Pedigree, developmental delay, Female, intellectual disabilities, STRUCTURAL BASIS, RECRUITMENT, DOMAINS, PROTEINS, Protein subunit, Adaptor Protein Complex 1, neurodevelopment disorder, Pakistani families, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Intellectual Disability, Report, medicine, Animals, Humans, AP-1 complex, Allele, Alleles, 030304 developmental biology, Messenger RNA, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetic heterogeneity, AP1G1, biology.organism_classification, medicine.disease, AP-1, Rats, HEK293 Cells, Neurodevelopmental Disorders, CELLS, epilepsy, exome sequencing, 030217 neurology & neurosurgery, PATHOGENICITY

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb82f44ab70c0b8b78cf4169f26d7a79Test
https://doi.org/10.1016/j.ajhg.2021.05.007Test

المؤلفون: Auriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, Blanca Gener, Isabelle Bailleul-Forestier, Isabelle Meyts, Guillaume Jouret, Bertrand Isidor, Carole Brewer, Wim Wuyts, Leen Moens, Selket Delafontaine, Wayne Wing Keung Lam, Kris Van Den Bogaert, Anneleen Boogaerts, Emmanuel Scalais, Thomas Besnard, Benjamin Cogne, Christophe Guissard, Paul Rollier, Wilfrid Carre, Regis Bouvet, Karin Tarte, Ricardo Gómez-Carmona, Pablo Lapunzina, Sylvie Odent, Marie Faoucher, Christele Dubourg, Víctor L. Ruiz-Pérez, Koen Devriendt, Laurent Pasquier, Luis A. Pérez-Jurado

المساهمون: Generalitat de Catalunya, CHU Pontchaillou [Rennes], Centre de référence Maladies Rares CLAD-Ouest [Rennes], Universidad Autónoma de Madrid (UAM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Department of Microbiology, Immunology and Transplantation [Leuven], Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), University Hospitals Leuven [Leuven], Laboratoire National de Santé [Luxembourg] (LNS), Centre hospitalier universitaire de Nantes (CHU Nantes), Institut du Thorax [Nantes], Antwerp University Hospital [Edegem] (UZA), Centre Hospitalier de Luxembourg [Luxembourg] (CHL), Geroscience and rejuvenation research center (RESTORE), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Microenvironment and B-cells: Immunopathology,Cell Differentiation, and Cancer (MOBIDIC), Université de Rennes (UR)-Etablissement français du sang [Rennes] (EFS Bretagne)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Universitat Pompeu Fabra [Barcelona] (UPF), Research reported in this publication was supported by the CatalonianDepartment of Health (URDCAT: Grant SLT002/16/00174) and the ENoD Programme of CIBERER(ER16P08), Instituto de Salud Carlos III. Selket Delafontaine is supported by the personal FWO Grant11F4421N. Isabelle Meyts is a Senior Clinical Investigator at the Research Foundation – Flanders, andis supported by the CSL Behring Chair of Primary Immunodeficiencies, by the KU Leuven C1 GrantC16/18/007, by a VIB GC PID Grant, by the FWO Grants G0C8517N, G0B5120N and G0E8420N and bythe Jeffrey Modell Foundation. Part of this work was supported by a grant from the Spanish Ministryof Science and Innovation (PID2019-105620RB-I00/AEI/10.13039/501100011033). The project hasalso received funding from the European Research Council (ERC) under the European Union’s Horizon2020 research and innovation programme (grant agreement No. 948959). This work is supported byERN-RITA.LAPJ is founding partner and scientific advisor of qGenomics Laboratories. The remaining authorsdeclare no potential conflict of interest.

المصدر: Genetics in Medicine
Genetics in Medicine, 2022, 24 (12), pp.2475-2486. ⟨10.1016/j.gim.2022.09.002⟩
Genetics in medicine

مصطلحات موضوعية: FOSL2 FRA-2 aplasia cutis congenita of scalp enamel hypoplasia AP-1 complex Adams-Oliver syndrome, Autism Spectrum Disorder, MESH: Fos-Related Antigen-2, FOSL2, Fos-Related Antigen-2, MESH: Scalp, Adams-Oliver syndrome, Ectodermal Dysplasia, AP-1 complex, Humans, RNA, Messenger, Genetics (clinical), FRA-2, MESH: Neurodevelopmental Disorders, MESH: RNA, Messenger, enamel hypoplasia, MESH: Autism Spectrum Disorder, MESH: Humans, MESH: Ectodermal Dysplasia, Scalp, Exons, MESH: Transcription Factor AP-1, Transcription Factor AP-1, aplasia cutis congenita of scalp, HEK293 Cells, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurodevelopmental Disorders, MESH: HEK293 Cells, Human medicine, MESH: Exons

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a9c2cb95f13c2d762c5435721f9e969Test
https://pubmed.ncbi.nlm.nih.gov/36197437Test

المؤلفون: Tavares, Lucas Alves

مرشدي الرسالة: Silva, Luis Lamberti Pinto da

مصطلحات موضوعية: 2 depletion, acts in the CD4 down-regulation induced by Nef. These studies contribute to a better understanding on the molecular mechanisms involved in Nef activit, although not need charging ubiquitination, and it is estimated that there are currently at least 36.9 million people infected with the virus. During the replication cycle, and only the AP-1 variant comprising ?2, another subunit of AP-1, AP-1, AP-1 subunits. By pull-down technique, AP-2, AP-2 and AP-3 are potentially heterogeneous due to the existence of multiple subunits isoforms encoded by different genes. However, AP-3 complexes and Nef does not appear to interact with AP-4 and AP-5 subunits. However, being an important protein in the endo-lysosomal system. Furthermore, but also seem to compose AP-1 complex with distinct cell functions, but not ?1, but not ?1 depletion, but the molecular mechanisms are still incompletely understood. Nef forms a tripartite complex with the cytosolic tail of the CD4 and adapter protein, by flow cytometry assay, compromises the reduction of surface CD4 levels induced by Nef. Immunofluorescence microscopy analysis also revealed that ?2 depletion impairs the red, compromising the efficient CD4 degradation by Nef. Moreover, depends on the proteins from ESCRTs (Endosomal Sorting Complexes Required for Transport) machinery and the action of Alix, an accessory protein ESCRT, ESCRT, HIV promotes several changes in the physiology of the host cell to promote their survival and enhance replication. The fast progression of HIV-1 in hu, HIV-1, inducing CD4 internalization and lysosome degradation. Previous research has demonstrated that CD4 target to lysosomes by Nef involves targeting of th, internalized CD4 accumulates in enlarged HRS-GFP positive endosomes, is required in Nef-mediated targeting of CD4 to lysosomes and the ?2 participation in this process is conserved by Nef from different viral strains. F, MVB, Nef, not ?1-adaptin, one is the most important is the down-regulation of proteins from the immune response, our data from immunoblots indicated that ?2- adaptin, regulação negativa de CD4, resulted in decreased cellular levels of ?1 and ?2 and, resulting in CD4 accumulation in primary endosomes. Knockdown of ?1A, such as the CD4 receptor. It is known that this action causes CD4 degradation in lysosome, the results indicate that ?-adaptins isoforms not only have different functions, the results indicate that ?2-adaptin is a molecule that is essential for CD4 targeting by Nef to ESCRT/MVB pathway, The Human Immunodeficiency Virus (HIV) is the etiologic agent of Acquired Immunodeficiency Syndrome (AIDS). AIDS is a disease which has a global distr, the role of Nef interaction with AP-1 or AP-3 in CD4 down-regulation is poorly understood. Furthermore, there are few studies to demonstrate if the different combinations of APs isoforms are form and if they have distinct functional properties. This stud, this study aimed to characterize the involvement of AP-1 complex in the down-regulation of CD4 by Nef HIV-1 through the functional study of the two is, this work contributes with the understanding of primordial process regulation on intracellular trafficking of transmembrane proteins., upon artificially stabilizing ESCRT-I in early endosomes, via overexpression of HRS, we showed that Nef is able to interact with ?2. In addition, where co-localize with ?2. Together, which may also help to improve the understanding of the HIV pathogenesis and the related syndrome. In addition, y1-adaptina, y2-adaptina

وصف الملف: application/pdf

الإتاحة: http://www.teses.usp.br/teses/disponiveis/17/17136/tde-06012017-113215Test/

المؤلفون: Muneer Hasham, Siddhartha Sharma, Radu Marches, Ron Korstanje, Cheng-han Chung, Ahrim Youn, Neerja Katiyar, Jacques Banchereau, Duygu Ucar, Emin Onur Karakaslar

مصطلحات موضوعية: Immune system, AP-1 Complex, Regulator, Biology, Signature (logic), Cell biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b14bb7e2df0216232ebe94eba818672bTest
https://doi.org/10.21203/rs.3.rs-1051151/v1Test