Recent progress in lysosomal alpha-mannosidase and its deficiency
Experimental & Molecular Medicine
;
: 1-7, 2001.
Artigo
em Inglês
| WPRIM
| ID: wpr-80379
ABSTRACT
Lysosomal alpha-mannosidase (EC 3.2.1.24) is a major exoglycosidase in the glycoprotein degradation pathway. A deficiency of this enzyme causes the lysosomal storage disease, alpha-mannosidosis, which has been described in humans, cattle, domestic cats and guinea pigs. Recently, great progress has been made in studying the enzyme and its deficiency. This includes cloning of the gene encoding the enzyme, characterization of mutations related to the disease, establishment of valuable animal models, and encouraging results from bone marrow transplantation experiments.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Transcrição Gênica
/
Clonagem Molecular
/
Doenças por Deficiência de Manosidase
/
Modelos Animais de Doenças
/
Cobaias
/
Animais
/
Lisossomos
/
Manosidases
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Animais
/
Humanos
Idioma:
Inglês
Revista:
Experimental & Molecular Medicine
Ano de publicação:
2001
Tipo de documento:
Artigo
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