Ontology highlight
ABSTRACT:
INSTRUMENT(S): Liquid Chromatography MS - alternating - hilic
SUBMITTER: Esther Zaal
PROVIDER: MTBLS2538 | MetaboLights | 2021-06-24
REPOSITORIES: MetaboLights
Action | DRS | |||
---|---|---|---|---|
MTBLS2538 | Other | |||
FILES | Other | |||
a_MTBLS2538_LC-MS_alternating_hilic_metabolite_profiling.txt | Txt | |||
i_Investigation.txt | Txt | |||
m_MTBLS2538_LC-MS_alternating_hilic_metabolite_profiling_v2_maf.tsv | Tabular |
Items per page: 1 - 5 of 6 |
EMBO molecular medicine 20210624 7
Nephropathic cystinosis is a severe monogenic kidney disorder caused by mutations in CTNS, encoding the lysosomal transporter cystinosin, resulting in lysosomal cystine accumulation. The sole treatment, cysteamine, slows down the disease progression, but does not correct the established renal proximal tubulopathy. Here, we developed a new therapeutic strategy by applying omics to expand our knowledge on the complexity of the disease and prioritize drug targets in cystinosis. We identified alpha- ...[more]