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

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,...

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Detalles Bibliográficos
Autores principales: Mucci, Juan Marcos, Rozenfeld, Paula
Formato: Articulo Revision
Lenguaje:Inglés
Publicado: 2015
Materias:
Biología
Gaucher Disease
Glucosylceramidase
Enzyme glucocerebrosidase
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/85889
Aporte de:
SEDICI (UNLP) de Universidad Nacional de La Plata
id I19-R120-10915-85889
record_format dspace
institution Universidad Nacional de La Plata
institution_str I-19
repository_str R-120
collection SEDICI (UNLP)
language Inglés
topic Biología
Gaucher Disease
Glucosylceramidase
Enzyme glucocerebrosidase
spellingShingle Biología
Gaucher Disease
Glucosylceramidase
Enzyme glucocerebrosidase
Mucci, Juan Marcos
Rozenfeld, Paula
Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System
topic_facet Biología
Gaucher Disease
Glucosylceramidase
Enzyme glucocerebrosidase
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.
format Articulo
Revision
author Mucci, Juan Marcos
Rozenfeld, Paula
author_facet Mucci, Juan Marcos
Rozenfeld, Paula
author_sort Mucci, Juan Marcos
title Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System
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
publishDate 2015
url http://sedici.unlp.edu.ar/handle/10915/85889
work_keys_str_mv AT muccijuanmarcos pathogenesisofbonealterationsingaucherdiseasetheroleofimmunesystem
AT rozenfeldpaula pathogenesisofbonealterationsingaucherdiseasetheroleofimmunesystem
bdutipo_str Repositorios
_version_ 1764820489078833153

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