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Omics · study · 2026

Dietary Interventions Promoting Mutant Uromodulin Clearance as a Therapeutic Strategy in Preclinical Models of Autosomal Dominant Tubulointerstitial Kidney Disease [RNA-seq_WT_R186S_CR]

Listed in NCBI GEO

Missense mutations in UMOD cause autosomal dominant tubulointerstitial kidney disease (ADTKD-UMOD), a prevalent monogenic disorder caused by intracellular accumulation of mutant uromodulin.

Description

We previously showed how stimulation of autophagy through nutrient deprivation promotes the clearance of mutant uromodulin, reducing toxic aggregates and ER stress and alleviating kidney disease. We exposed 8-week old UmodR186S/+ to a 4-week progressive CR compared to ad libitum (AL) feeding in mutant and WT littermates.

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Life Sciences
Inferred from text
Disease 75%
Provenance · 1 source records, 8 field assertions
SourceKeyLast seenRaw
NCBI GEOGSE31413113 d agoJSON v1
FieldAssertionExtractorEvidence
access_levelsource · NCBI GEOconnector:ncbi_geo@1.0.0
concepts[disease].local:disease:diseaseenrichment · NCBI GEOkeyword-concept-rules@1.0.0title+description (75%)
concepts[field].local:field:life-sciencesmapping · NCBI GEOconnector:ncbi_geo@1.0.0
concepts[method].geo_series_type:expression-profiling-by-high-throughput-sequencingsource · NCBI GEOconnector:ncbi_geo@1.0.0/gdstype
concepts[organism].NCBITaxon:10090source · NCBI GEOconnector:ncbi_geo@1.0.0/taxon
descriptionsource · NCBI GEOconnector:ncbi_geo@1.0.0/summary
publication_datesource · NCBI GEOconnector:ncbi_geo@1.0.0
titlesource · NCBI GEOconnector:ncbi_geo@1.0.0/title