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Int J Mol Sci ; 24(1)2022 Dec 28.
Artigo em Inglês | MEDLINE | ID: mdl-36613919

RESUMO

Mucopolysaccharidoses (MPSs) constitute a heterogeneous group of lysosomal storage disorders characterized by the lysosomal accumulation of glycosaminoglycans (GAGs). Although lysosomal dysfunction is mainly affected, several cellular organelles such as mitochondria, endoplasmic reticulum, Golgi apparatus, and their related process are also impaired, leading to the activation of pathophysiological cascades. While supplying missing enzymes is the mainstream for the treatment of MPS, including enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), or gene therapy (GT), the use of modulators available to restore affected organelles for recovering cell homeostasis may be a simultaneous approach. This review summarizes the current knowledge about the cellular consequences of the lysosomal GAGs accumulation and discusses the use of potential modulators that can reestablish normal cell function beyond ERT-, HSCT-, or GT-based alternatives.


Assuntos
Doenças por Armazenamento dos Lisossomos , Mucopolissacaridoses , Humanos , Glicosaminoglicanos/uso terapêutico , Mucopolissacaridoses/genética , Doenças por Armazenamento dos Lisossomos/tratamento farmacológico , Lisossomos , Terapia de Reposição de Enzimas
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