Nonsense CD247 mutations show dominant-negative features in T-cell receptor expression and function

The invariant TCR ζ/CD247 homodimer is crucial for TCR/CD3 expression and signaling through its 3 immunoreceptor tyrosine-based activation motifs (ITAMs). Homozygous null mutations in CD247 lead to immunodeficiency, while carriers exhibit 50% reduced surface CD3. It is unclear whether carriers of ot...

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Detalles Bibliográficos
Autores: Briones, Alejandro C, Megino, Rebeca F, Marin, Ana V, Chacón-Arguedas, Daniel, García-Martinez, Elena, Balastegui-Martín, Héctor, Reyburn, Hugh T, Henrickson, Sarah E, Rodríguez-Sainz, Carmen, Seoane-Reula, Elena, Sanchez-Mateos, Paloma, Cardenas, Paula P, Regueiro, Jose R
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/374263
Acceso en línea:http://hdl.handle.net/10261/374263
https://api.elsevier.com/content/abstract/scopus_id/85200996428
Access Level:acceso abierto
Palabra clave:CD247
CD3ζ
ITAM
TCR
TCR ζ
Autoimmunity
Immunodeficiency
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spelling Nonsense CD247 mutations show dominant-negative features in T-cell receptor expression and functionBriones, Alejandro CMegino, Rebeca FMarin, Ana VChacón-Arguedas, DanielGarcía-Martinez, ElenaBalastegui-Martín, HéctorReyburn, Hugh THenrickson, Sarah ERodríguez-Sainz, CarmenSeoane-Reula, ElenaSanchez-Mateos, PalomaCardenas, Paula PRegueiro, Jose RCD247CD3ζITAMTCRTCR ζAutoimmunityImmunodeficiencyThe invariant TCR ζ/CD247 homodimer is crucial for TCR/CD3 expression and signaling through its 3 immunoreceptor tyrosine-based activation motifs (ITAMs). Homozygous null mutations in CD247 lead to immunodeficiency, while carriers exhibit 50% reduced surface CD3. It is unclear whether carriers of other CD247 variants show dominant-negative effects.This work was supported by grants from the Ministerio de Economía y Competitividad (MINECO PID2021-125501OB-I00 and RTI2018-095673-B-I00) and Asociación Española Contra el Cancer (AECC PROYE20084REGU). A.C.B. was supported by Complutense University scholarship (CT27/16 and CT31/21). R.F.M. and D.C.A. were supported by the Spanish Ministry of Science, Innovation and Universities (FPU19/03136 and PRE2019-088150). P.P.C. was supported by Juan de la Cierva-Incorporacion fellowship (IJCI-2014-19262).Peer reviewedElsevierMinisterio de Economía y Competitividad (España)Asociación Española Contra el CáncerMinisterio de Ciencia, Innovación y Universidades (España)Universidad Complutense de MadridConsejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]202420242024info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionhttp://hdl.handle.net/10261/374263https://api.elsevier.com/content/abstract/scopus_id/85200996428reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Inglés#PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE#info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2021-2023/PID2021-125501OB-I00info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/RTI2018-095673-B-I00info:eu-repo/grantAgreement/MINECO//IJCI-2014-19262The Journal of allergy and clinical immunologyapplication/pdfhttps://doi.org/10.1016/j.jaci.2024.06.019Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/3742632026-05-22T06:33:51Z
dc.title.none.fl_str_mv Nonsense CD247 mutations show dominant-negative features in T-cell receptor expression and function
title Nonsense CD247 mutations show dominant-negative features in T-cell receptor expression and function
spellingShingle Nonsense CD247 mutations show dominant-negative features in T-cell receptor expression and function
Briones, Alejandro C
CD247
CD3ζ
ITAM
TCR
TCR ζ
Autoimmunity
Immunodeficiency
title_short Nonsense CD247 mutations show dominant-negative features in T-cell receptor expression and function
title_full Nonsense CD247 mutations show dominant-negative features in T-cell receptor expression and function
title_fullStr Nonsense CD247 mutations show dominant-negative features in T-cell receptor expression and function
title_full_unstemmed Nonsense CD247 mutations show dominant-negative features in T-cell receptor expression and function
title_sort Nonsense CD247 mutations show dominant-negative features in T-cell receptor expression and function
dc.creator.none.fl_str_mv Briones, Alejandro C
Megino, Rebeca F
Marin, Ana V
Chacón-Arguedas, Daniel
García-Martinez, Elena
Balastegui-Martín, Héctor
Reyburn, Hugh T
Henrickson, Sarah E
Rodríguez-Sainz, Carmen
Seoane-Reula, Elena
Sanchez-Mateos, Paloma
Cardenas, Paula P
Regueiro, Jose R
author Briones, Alejandro C
author_facet Briones, Alejandro C
Megino, Rebeca F
Marin, Ana V
Chacón-Arguedas, Daniel
García-Martinez, Elena
Balastegui-Martín, Héctor
Reyburn, Hugh T
Henrickson, Sarah E
Rodríguez-Sainz, Carmen
Seoane-Reula, Elena
Sanchez-Mateos, Paloma
Cardenas, Paula P
Regueiro, Jose R
author_role author
author2 Megino, Rebeca F
Marin, Ana V
Chacón-Arguedas, Daniel
García-Martinez, Elena
Balastegui-Martín, Héctor
Reyburn, Hugh T
Henrickson, Sarah E
Rodríguez-Sainz, Carmen
Seoane-Reula, Elena
Sanchez-Mateos, Paloma
Cardenas, Paula P
Regueiro, Jose R
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Ministerio de Economía y Competitividad (España)
Asociación Española Contra el Cáncer
Ministerio de Ciencia, Innovación y Universidades (España)
Universidad Complutense de Madrid
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv CD247






CD3ζ
ITAM
TCR
TCR ζ
Autoimmunity
Immunodeficiency
topic CD247
CD3ζ
ITAM
TCR
TCR ζ
Autoimmunity
Immunodeficiency
description The invariant TCR ζ/CD247 homodimer is crucial for TCR/CD3 expression and signaling through its 3 immunoreceptor tyrosine-based activation motifs (ITAMs). Homozygous null mutations in CD247 lead to immunodeficiency, while carriers exhibit 50% reduced surface CD3. It is unclear whether carriers of other CD247 variants show dominant-negative effects.
publishDate 2024
dc.date.none.fl_str_mv 2024
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
Publisher's version
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/374263
https://api.elsevier.com/content/abstract/scopus_id/85200996428
url http://hdl.handle.net/10261/374263
https://api.elsevier.com/content/abstract/scopus_id/85200996428
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv #PLACEHOLDER_PARENT_METADATA_VALUE#
#PLACEHOLDER_PARENT_METADATA_VALUE#
#PLACEHOLDER_PARENT_METADATA_VALUE#
info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2021-2023/PID2021-125501OB-I00
info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/RTI2018-095673-B-I00
info:eu-repo/grantAgreement/MINECO//IJCI-2014-19262
The Journal of allergy and clinical immunology
application/pdf
https://doi.org/10.1016/j.jaci.2024.06.019
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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