Ontology highlight
ABSTRACT:
OTHER RELATED OMICS DATASETS IN: PXD006204
INSTRUMENT(S): LTQ Orbitrap Discovery (Thermo Scientific)
SUBMITTER: Robert Jansen
PROVIDER: MTBLS61 | MetaboLights | 2013-11-14
REPOSITORIES: MetaboLights
Action | DRS | |||
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MTBLS61 | Other | |||
FILES | Other | |||
a_MTBLS61_abcc6_mouse_plasma_metabolite_profiling_mass_spectrometry.txt | Txt | |||
a_MTBLS61_plasma_metabolite_profiling_mass_spectrometry.txt | Txt | |||
i_Investigation.txt | Txt |
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Proceedings of the National Academy of Sciences of the United States of America 20131125 50
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease characterized by progressive ectopic mineralization of the skin, eyes, and arteries, for which no effective treatment exists. PXE is caused by inactivating mutations in the gene encoding ATP-binding cassette sub-family C member 6 (ABCC6), an ATP-dependent efflux transporter present mainly in the liver. Abcc6(-/-) mice have been instrumental in demonstrating that PXE is a metabolic disease caused by the absence of an unknown factor ...[more]