A Novel Mouse Model of a Patient Mucolipidosis II Mutation Recapitulates Disease Pathology

Mucolipidosis II (MLII) is a lysosomal storage disorder caused by loss of N-acetylglucosamine-1-phosphotransferase, which tags lysosomal enzymes with a mannose 6-phosphate marker for transport to the lysosome. In MLII, the loss of this marker leads to deficiency of multiple enzymes and non-enzymatic...

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Detalles Bibliográficos
Autores principales: Paton, Leigh, Bitoun, Emmanuelle, Kenyon, Janet, Priestman, David A., Oliver, Peter L., Edwards, Benjamin, Platt, Frances M., Davies, Kay E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2014
Materias:
Molecular Bases of Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4175314/
https://www.ncbi.nlm.nih.gov/pubmed/25107912
http://dx.doi.org/10.1074/jbc.M114.586156

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4175314/
https://www.ncbi.nlm.nih.gov/pubmed/25107912
http://dx.doi.org/10.1074/jbc.M114.586156

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