LRBA in the endomembrane system

ABSTRACT: Bi-allelic mutations in LRBA (from Lipopolysaccharide-responsive and beige-like anchor protein) result in a primary immunodeficiency with clinical features ranging from hypogammaglobulinemia and lymphoproliferative syndrome to inflammatory bowel disease and heterogeneous autoimmune manifes...

Full description

Autores:
Martínez Jaramillo, Catalina
Trujillo Vargas, Claudia Milena
Tipo de recurso:
Article of investigation
Fecha de publicación:
2018
Institución:
Universidad de Antioquia
Repositorio:
Repositorio UdeA
Idioma:
eng
OAI Identifier:
oai:bibliotecadigital.udea.edu.co:10495/23007
Acceso en línea:
http://hdl.handle.net/10495/23007
https://colombiamedica.univalle.edu.co/index.php/comedica/article/view/3911
Palabra clave:
Autofagia
Autophagy
Apoptosis
Apoptosis
Primary immunodeficiencies
LRBA deficiency
Inmunodeficiencias primarias
Deficiencia de LRBA
Vesicle trafficking
Tráfico vesicular
Rights
openAccess
License
http://creativecommons.org/licenses/by-nc-nd/2.5/co/
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repository_id_str
dc.title.spa.fl_str_mv LRBA in the endomembrane system
dc.title.alternative.spa.fl_str_mv LRBA en el sistema de endomembranas
title LRBA in the endomembrane system
spellingShingle LRBA in the endomembrane system
Autofagia
Autophagy
Apoptosis
Apoptosis
Primary immunodeficiencies
LRBA deficiency
Inmunodeficiencias primarias
Deficiencia de LRBA
Vesicle trafficking
Tráfico vesicular
title_short LRBA in the endomembrane system
title_full LRBA in the endomembrane system
title_fullStr LRBA in the endomembrane system
title_full_unstemmed LRBA in the endomembrane system
title_sort LRBA in the endomembrane system
dc.creator.fl_str_mv Martínez Jaramillo, Catalina
Trujillo Vargas, Claudia Milena
dc.contributor.author.none.fl_str_mv Martínez Jaramillo, Catalina
Trujillo Vargas, Claudia Milena
dc.subject.decs.none.fl_str_mv Autofagia
Autophagy
Apoptosis
Apoptosis
topic Autofagia
Autophagy
Apoptosis
Apoptosis
Primary immunodeficiencies
LRBA deficiency
Inmunodeficiencias primarias
Deficiencia de LRBA
Vesicle trafficking
Tráfico vesicular
dc.subject.proposal.spa.fl_str_mv Primary immunodeficiencies
LRBA deficiency
Inmunodeficiencias primarias
Deficiencia de LRBA
Vesicle trafficking
Tráfico vesicular
description ABSTRACT: Bi-allelic mutations in LRBA (from Lipopolysaccharide-responsive and beige-like anchor protein) result in a primary immunodeficiency with clinical features ranging from hypogammaglobulinemia and lymphoproliferative syndrome to inflammatory bowel disease and heterogeneous autoimmune manifestations. LRBA deficiency has been shown to affect vesicular trafficking, autophagy and apoptosis, which may lead to alterations of several molecules and processes that play key roles for immunity. In this review, we will discuss the relationship of LRBA with the endovesicular system in the context of receptor trafficking, autophagy and apoptosis. Since these mechanisms of homeostasis are inherent to all living cells and not only limited to the immune system and also, because they are involved in physiological as well as pathological processes such as embryogenesis or tumoral transformation, we envisage advancing in the identification of potential pharmacological agents to manipulate these processes.
publishDate 2018
dc.date.issued.none.fl_str_mv 2018
dc.date.accessioned.none.fl_str_mv 2021-10-07T23:04:21Z
dc.date.available.none.fl_str_mv 2021-10-07T23:04:21Z
dc.type.spa.fl_str_mv info:eu-repo/semantics/article
dc.type.coarversion.fl_str_mv http://purl.org/coar/version/c_970fb48d4fbd8a85
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dc.type.local.spa.fl_str_mv Artículo de investigación
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dc.identifier.issn.none.fl_str_mv 0120-8322
dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/10495/23007
dc.identifier.doi.none.fl_str_mv 10.25100/cm.v49i3.3802
dc.identifier.eissn.none.fl_str_mv 1657-9534
dc.identifier.url.spa.fl_str_mv https://colombiamedica.univalle.edu.co/index.php/comedica/article/view/3911
identifier_str_mv 0120-8322
10.25100/cm.v49i3.3802
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url http://hdl.handle.net/10495/23007
https://colombiamedica.univalle.edu.co/index.php/comedica/article/view/3911
dc.language.iso.spa.fl_str_mv eng
language eng
dc.relation.ispartofjournalabbrev.spa.fl_str_mv Colomb. med.
dc.rights.spa.fl_str_mv info:eu-repo/semantics/openAccess
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eu_rights_str_mv openAccess
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dc.format.extent.spa.fl_str_mv 8
dc.format.mimetype.spa.fl_str_mv application/pdf
dc.publisher.spa.fl_str_mv Universidad del Valle
dc.publisher.group.spa.fl_str_mv Inmunodeficiencias Primarias
dc.publisher.place.spa.fl_str_mv Cali, Colombia
institution Universidad de Antioquia
bitstream.url.fl_str_mv http://bibliotecadigital.udea.edu.co/bitstream/10495/23007/1/MartinezCatalina_2018_LRBAEndomembraneSystem.pdf
http://bibliotecadigital.udea.edu.co/bitstream/10495/23007/2/license_rdf
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repository.name.fl_str_mv Repositorio Institucional Universidad de Antioquia
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spelling Martínez Jaramillo, CatalinaTrujillo Vargas, Claudia Milena2021-10-07T23:04:21Z2021-10-07T23:04:21Z20180120-8322http://hdl.handle.net/10495/2300710.25100/cm.v49i3.38021657-9534https://colombiamedica.univalle.edu.co/index.php/comedica/article/view/3911ABSTRACT: Bi-allelic mutations in LRBA (from Lipopolysaccharide-responsive and beige-like anchor protein) result in a primary immunodeficiency with clinical features ranging from hypogammaglobulinemia and lymphoproliferative syndrome to inflammatory bowel disease and heterogeneous autoimmune manifestations. LRBA deficiency has been shown to affect vesicular trafficking, autophagy and apoptosis, which may lead to alterations of several molecules and processes that play key roles for immunity. In this review, we will discuss the relationship of LRBA with the endovesicular system in the context of receptor trafficking, autophagy and apoptosis. Since these mechanisms of homeostasis are inherent to all living cells and not only limited to the immune system and also, because they are involved in physiological as well as pathological processes such as embryogenesis or tumoral transformation, we envisage advancing in the identification of potential pharmacological agents to manipulate these processes.RESUMEN: Las mutaciones bi-alélicas en LRBA (del inglés, Lipopolysaccharide- responsive and beige-like anchor protein) conllevan a una inmunodeficiencia primaria con características clínicas que abarcan desde hipogamaglubulinemia y síndrome linfoproliferativo hasta una enfermedad inflamatoria intestinal y manifestaciones autoinmunes heterogéneas. Se ha demostrado que la deficiencia de LRBA afecta el tráfico vesicular, la autofagia y la apoptosis pudiendo generar alteraciones en la regulación de varios procesos importantes para la inmunidad. En esta revisión discutiremos la relación de LRBA con el sistema endovesicular en el contexto del tráfico de receptores, la autofagia y la apoptosis. Estos mecanismos de homeostasis son inherentes a todas las células y no están limitados a las células del sistema inmune, están involucrados en procesos fisiológicos y patológicos, como la embriogénesis o la transformación tumoral. El entendimiento de la función de LRBA permitirá avanzar en la identificación de los posibles blancos farmacológicos para manipular estos procesos.COL00124268application/pdfengUniversidad del ValleInmunodeficiencias PrimariasCali, Colombiainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_2df8fbb1https://purl.org/redcol/resource_type/ARTArtículo de investigaciónhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-nd/2.5/co/http://purl.org/coar/access_right/c_abf2https://creativecommons.org/licenses/by-nc-nd/4.0/LRBA in the endomembrane systemLRBA en el sistema de endomembranasAutofagiaAutophagyApoptosisApoptosisPrimary immunodeficienciesLRBA deficiencyInmunodeficiencias primariasDeficiencia de LRBAVesicle traffickingTráfico vesicularColomb. med.Colombia Médica236243493ORIGINALMartinezCatalina_2018_LRBAEndomembraneSystem.pdfMartinezCatalina_2018_LRBAEndomembraneSystem.pdfArtículo de investigaciónapplication/pdf685027http://bibliotecadigital.udea.edu.co/bitstream/10495/23007/1/MartinezCatalina_2018_LRBAEndomembraneSystem.pdf5a6ccee6ac34e885ef220cb97b691693MD51CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8823http://bibliotecadigital.udea.edu.co/bitstream/10495/23007/2/license_rdfb88b088d9957e670ce3b3fbe2eedbc13MD52LICENSElicense.txtlicense.txttext/plain; charset=utf-81748http://bibliotecadigital.udea.edu.co/bitstream/10495/23007/3/license.txt8a4605be74aa9ea9d79846c1fba20a33MD5310495/23007oai:bibliotecadigital.udea.edu.co:10495/230072021-10-07 18:04:21.428Repositorio Institucional Universidad de Antioquiaandres.perez@udea.edu.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