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...
| Príomhchruthaitheoirí: | , , , , , , , |
|---|---|
| Formáid: | Journal article |
| Teanga: | English |
| Foilsithe / Cruthaithe: |
American Society for Biochemistry and Molecular Biology Inc.
2014
|