Recent progress in lysosomal alpha-mannosidase and its deficiency
Experimental & Molecular Medicine
;
: 1-7, 2001.
Article
in English
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Transcription, Genetic
/
Cloning, Molecular
/
Mannosidase Deficiency Diseases
/
Disease Models, Animal
/
Guinea Pigs
/
Animals
/
Lysosomes
/
Mannosidases
/
Mutation
Type of study:
Prognostic study
Limits:
Animals
/
Humans
Language:
English
Journal:
Experimental & Molecular Medicine
Year:
2001
Type:
Article
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