A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.

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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Dades bibliogràfiques
Autors principals:	Paton, L, Bitoun, E, Kenyon, J, Priestman, D, Oliver, P, Edwards, B, Platt, F, Davies, K
Format:	Journal article
Idioma:	English
Publicat:	American Society for Biochemistry and Molecular Biology Inc. 2014

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