Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System

Autores
Mucci, Juan Marcos; Rozenfeld, Paula
Año de publicación
2015
Idioma
inglés
Tipo de recurso
reseña artículo
Estado
versión publicada
Descripción
Gaucher, the most prevalent lysosomal disorder, is an autosomal recessive inherited disorder due to a deficiency of glucocerebrosidase. Glucocerebrosidase deficiency leads to the accumulation of glucosylceramide primarily in cells of mononuclear-macrophage lineage. Clinical alterations are visceral, hematological, and skeletal. Bone disorder in Gaucher disease produces defects on bone metabolism and structure and patients suffer from bone pain and crisis. Skeletal problems include osteopenia, osteoporosis, osteolytic lesions, and osteonecrosis. On the other hand a chronic stimulation of the immune system is a well-accepted hallmark in this disease. In this review we summarize the latest findings in the mechanisms leading to the bone pathology in Gaucher disease in relationship with the proinflammatory state.
Instituto de Estudios Inmunológicos y Fisiopatológicos
Materia
Biología
Gaucher Disease
Glucosylceramidase
Enzyme glucocerebrosidase
Nivel de accesibilidad
acceso abierto
Condiciones de uso
http://creativecommons.org/licenses/by/3.0/
Repositorio
SEDICI (UNLP)
Institución
Universidad Nacional de La Plata
OAI Identificador
oai:sedici.unlp.edu.ar:10915/85889
Acceder
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network_name_str SEDICI (UNLP)
spelling Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune SystemMucci, Juan MarcosRozenfeld, PaulaBiologíaGaucher DiseaseGlucosylceramidaseEnzyme glucocerebrosidaseGaucher, the most prevalent lysosomal disorder, is an autosomal recessive inherited disorder due to a deficiency of glucocerebrosidase. Glucocerebrosidase deficiency leads to the accumulation of glucosylceramide primarily in cells of mononuclear-macrophage lineage. Clinical alterations are visceral, hematological, and skeletal. Bone disorder in Gaucher disease produces defects on bone metabolism and structure and patients suffer from bone pain and crisis. Skeletal problems include osteopenia, osteoporosis, osteolytic lesions, and osteonecrosis. On the other hand a chronic stimulation of the immune system is a well-accepted hallmark in this disease. In this review we summarize the latest findings in the mechanisms leading to the bone pathology in Gaucher disease in relationship with the proinflammatory state.Instituto de Estudios Inmunológicos y Fisiopatológicos2015info:eu-repo/semantics/reviewinfo:eu-repo/semantics/publishedVersionRevisionhttp://purl.org/coar/resource_type/c_dcae04bcinfo:ar-repo/semantics/resenaArticuloapplication/pdfhttp://sedici.unlp.edu.ar/handle/10915/85889enginfo:eu-repo/semantics/altIdentifier/issn/2314-8861info:eu-repo/semantics/altIdentifier/doi/10.1155/2015/192761info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by/3.0/Creative Commons Attribution 3.0 Unported (CC BY 3.0)reponame:SEDICI (UNLP)instname:Universidad Nacional de La Platainstacron:UNLP2025-10-15T11:08:51Zoai:sedici.unlp.edu.ar:10915/85889Institucionalhttp://sedici.unlp.edu.ar/Universidad públicaNo correspondehttp://sedici.unlp.edu.ar/oai/snrdalira@sedici.unlp.edu.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:13292025-10-15 11:08:51.607SEDICI (UNLP) - Universidad Nacional de La Platafalse
dc.title.none.fl_str_mv Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System
title Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System
spellingShingle Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System
Mucci, Juan Marcos
Biología
Gaucher Disease
Glucosylceramidase
Enzyme glucocerebrosidase
title_short Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System
title_full Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System
title_fullStr Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System
title_full_unstemmed Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System
title_sort Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System
dc.creator.none.fl_str_mv Mucci, Juan Marcos
Rozenfeld, Paula
author Mucci, Juan Marcos
author_facet Mucci, Juan Marcos
Rozenfeld, Paula
author_role author
author2 Rozenfeld, Paula
author2_role author
dc.subject.none.fl_str_mv Biología
Gaucher Disease
Glucosylceramidase
Enzyme glucocerebrosidase
topic Biología
Gaucher Disease
Glucosylceramidase
Enzyme glucocerebrosidase
dc.description.none.fl_txt_mv Gaucher, the most prevalent lysosomal disorder, is an autosomal recessive inherited disorder due to a deficiency of glucocerebrosidase. Glucocerebrosidase deficiency leads to the accumulation of glucosylceramide primarily in cells of mononuclear-macrophage lineage. Clinical alterations are visceral, hematological, and skeletal. Bone disorder in Gaucher disease produces defects on bone metabolism and structure and patients suffer from bone pain and crisis. Skeletal problems include osteopenia, osteoporosis, osteolytic lesions, and osteonecrosis. On the other hand a chronic stimulation of the immune system is a well-accepted hallmark in this disease. In this review we summarize the latest findings in the mechanisms leading to the bone pathology in Gaucher disease in relationship with the proinflammatory state.
Instituto de Estudios Inmunológicos y Fisiopatológicos
description Gaucher, the most prevalent lysosomal disorder, is an autosomal recessive inherited disorder due to a deficiency of glucocerebrosidase. Glucocerebrosidase deficiency leads to the accumulation of glucosylceramide primarily in cells of mononuclear-macrophage lineage. Clinical alterations are visceral, hematological, and skeletal. Bone disorder in Gaucher disease produces defects on bone metabolism and structure and patients suffer from bone pain and crisis. Skeletal problems include osteopenia, osteoporosis, osteolytic lesions, and osteonecrosis. On the other hand a chronic stimulation of the immune system is a well-accepted hallmark in this disease. In this review we summarize the latest findings in the mechanisms leading to the bone pathology in Gaucher disease in relationship with the proinflammatory state.
publishDate 2015
dc.date.none.fl_str_mv 2015
dc.type.none.fl_str_mv info:eu-repo/semantics/review
info:eu-repo/semantics/publishedVersion
Revision
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info:ar-repo/semantics/resenaArticulo
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status_str publishedVersion
dc.identifier.none.fl_str_mv http://sedici.unlp.edu.ar/handle/10915/85889
url http://sedici.unlp.edu.ar/handle/10915/85889
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/issn/2314-8861
info:eu-repo/semantics/altIdentifier/doi/10.1155/2015/192761
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by/3.0/
Creative Commons Attribution 3.0 Unported (CC BY 3.0)
eu_rights_str_mv openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/3.0/
Creative Commons Attribution 3.0 Unported (CC BY 3.0)
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:SEDICI (UNLP)
instname:Universidad Nacional de La Plata
instacron:UNLP
reponame_str SEDICI (UNLP)
collection SEDICI (UNLP)
instname_str Universidad Nacional de La Plata
instacron_str UNLP
institution UNLP
repository.name.fl_str_mv SEDICI (UNLP) - Universidad Nacional de La Plata
repository.mail.fl_str_mv alira@sedici.unlp.edu.ar
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