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...
- 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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|
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 |
dc.type.hasversion.spa.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.coar.spa.fl_str_mv |
http://purl.org/coar/resource_type/c_2df8fbb1 |
dc.type.redcol.spa.fl_str_mv |
https://purl.org/redcol/resource_type/ART |
dc.type.local.spa.fl_str_mv |
Artículo de investigación |
format |
http://purl.org/coar/resource_type/c_2df8fbb1 |
status_str |
publishedVersion |
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 1657-9534 |
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 |
dc.rights.uri.*.fl_str_mv |
http://creativecommons.org/licenses/by-nc-nd/2.5/co/ |
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http://purl.org/coar/access_right/c_abf2 |
dc.rights.creativecommons.spa.fl_str_mv |
https://creativecommons.org/licenses/by-nc-nd/4.0/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
http://creativecommons.org/licenses/by-nc-nd/2.5/co/ http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by-nc-nd/4.0/ |
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 http://bibliotecadigital.udea.edu.co/bitstream/10495/23007/3/license.txt |
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MD5 MD5 MD5 |
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Repositorio Institucional Universidad de Antioquia |
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andres.perez@udea.edu.co |
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1812173218315763712 |
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.coTk9URTogUExBQ0UgWU9VUiBPV04gTElDRU5TRSBIRVJFClRoaXMgc2FtcGxlIGxpY2Vuc2UgaXMgcHJvdmlkZWQgZm9yIGluZm9ybWF0aW9uYWwgcHVycG9zZXMgb25seS4KCk5PTi1FWENMVVNJVkUgRElTVFJJQlVUSU9OIExJQ0VOU0UKCkJ5IHNpZ25pbmcgYW5kIHN1Ym1pdHRpbmcgdGhpcyBsaWNlbnNlLCB5b3UgKHRoZSBhdXRob3Iocykgb3IgY29weXJpZ2h0Cm93bmVyKSBncmFudHMgdG8gRFNwYWNlIFVuaXZlcnNpdHkgKERTVSkgdGhlIG5vbi1leGNsdXNpdmUgcmlnaHQgdG8gcmVwcm9kdWNlLAp0cmFuc2xhdGUgKGFzIGRlZmluZWQgYmVsb3cpLCBhbmQvb3IgZGlzdHJpYnV0ZSB5b3VyIHN1Ym1pc3Npb24gKGluY2x1ZGluZwp0aGUgYWJzdHJhY3QpIHdvcmxkd2lkZSBpbiBwcmludCBhbmQgZWxlY3Ryb25pYyBmb3JtYXQgYW5kIGluIGFueSBtZWRpdW0sCmluY2x1ZGluZyBidXQgbm90IGxpbWl0ZWQgdG8gYXVkaW8gb3IgdmlkZW8uCgpZb3UgYWdyZWUgdGhhdCBEU1UgbWF5LCB3aXRob3V0IGNoYW5naW5nIHRoZSBjb250ZW50LCB0cmFuc2xhdGUgdGhlCnN1Ym1pc3Npb24gdG8gYW55IG1lZGl1bSBvciBmb3JtYXQgZm9yIHRoZSBwdXJwb3NlIG9mIHByZXNlcnZhdGlvbi4KCllvdSBhbHNvIGFncmVlIHRoYXQgRFNVIG1heSBrZWVwIG1vcmUgdGhhbiBvbmUgY29weSBvZiB0aGlzIHN1Ym1pc3Npb24gZm9yCnB1cnBvc2VzIG9mIHNlY3VyaXR5LCBiYWNrLXVwIGFuZCBwcmVzZXJ2YXRpb24uCgpZb3UgcmVwcmVzZW50IHRoYXQgdGhlIHN1Ym1pc3Npb24gaXMgeW91ciBvcmlnaW5hbCB3b3JrLCBhbmQgdGhhdCB5b3UgaGF2ZQp0aGUgcmlnaHQgdG8gZ3JhbnQgdGhlIHJpZ2h0cyBjb250YWluZWQgaW4gdGhpcyBsaWNlbnNlLiBZb3UgYWxzbyByZXByZXNlbnQKdGhhdCB5b3VyIHN1Ym1pc3Npb24gZG9lcyBub3QsIHRvIHRoZSBiZXN0IG9mIHlvdXIga25vd2xlZGdlLCBpbmZyaW5nZSB1cG9uCmFueW9uZSdzIGNvcHlyaWdodC4KCklmIHRoZSBzdWJtaXNzaW9uIGNvbnRhaW5zIG1hdGVyaWFsIGZvciB3aGljaCB5b3UgZG8gbm90IGhvbGQgY29weXJpZ2h0LAp5b3UgcmVwcmVzZW50IHRoYXQgeW91IGhhdmUgb2J0YWluZWQgdGhlIHVucmVzdHJpY3RlZCBwZXJtaXNzaW9uIG9mIHRoZQpjb3B5cmlnaHQgb3duZXIgdG8gZ3JhbnQgRFNVIHRoZSByaWdodHMgcmVxdWlyZWQgYnkgdGhpcyBsaWNlbnNlLCBhbmQgdGhhdApzdWNoIHRoaXJkLXBhcnR5IG93bmVkIG1hdGVyaWFsIGlzIGNsZWFybHkgaWRlbnRpZmllZCBhbmQgYWNrbm93bGVkZ2VkCndpdGhpbiB0aGUgdGV4dCBvciBjb250ZW50IG9mIHRoZSBzdWJtaXNzaW9uLgoKSUYgVEhFIFNVQk1JU1NJT04gSVMgQkFTRUQgVVBPTiBXT1JLIFRIQVQgSEFTIEJFRU4gU1BPTlNPUkVEIE9SIFNVUFBPUlRFRApCWSBBTiBBR0VOQ1kgT1IgT1JHQU5JWkFUSU9OIE9USEVSIFRIQU4gRFNVLCBZT1UgUkVQUkVTRU5UIFRIQVQgWU9VIEhBVkUKRlVMRklMTEVEIEFOWSBSSUdIVCBPRiBSRVZJRVcgT1IgT1RIRVIgT0JMSUdBVElPTlMgUkVRVUlSRUQgQlkgU1VDSApDT05UUkFDVCBPUiBBR1JFRU1FTlQuCgpEU1Ugd2lsbCBjbGVhcmx5IGlkZW50aWZ5IHlvdXIgbmFtZShzKSBhcyB0aGUgYXV0aG9yKHMpIG9yIG93bmVyKHMpIG9mIHRoZQpzdWJtaXNzaW9uLCBhbmQgd2lsbCBub3QgbWFrZSBhbnkgYWx0ZXJhdGlvbiwgb3RoZXIgdGhhbiBhcyBhbGxvd2VkIGJ5IHRoaXMKbGljZW5zZSwgdG8geW91ciBzdWJtaXNzaW9uLgo= |