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Journal article

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

Abstract:

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 proteins in the lysosome, leading to the storage of multiple substrates. Here we present a novel mouse model of MLII homozygous for a patient mutation in the GNPTAB gene. Whereas the current gene ...

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Publication status:
Published

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Publisher copy:
10.1074/jbc.m114.586156

Authors


Priestman, DA More by this author
Oliver, PL More by this author
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Publisher:
American Society for Biochemistry and Molecular Biology Inc.
Journal:
The Journal of biological chemistry
Volume:
289
Issue:
39
Pages:
26709-26721
Publication date:
2014-09-05
DOI:
EISSN:
1083-351X
ISSN:
0021-9258
URN:
uuid:6cfe0e5e-5627-4b19-b890-32fecf7f927c
Source identifiers:
480106
Local pid:
pubs:480106

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