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ProteomicsLysosomal cystine export regulates mTORC1 signaling to guide kidney epithelial cell fate specialization, proteomics-based profiling of Ctns KO mouse proximal tubule cells (mPTCs)
Differentiation is critical for epithelial cell fate decisions, but the signals involved remain unclear. The kidney proximal tubule (PT) cells reabsorb disulphide-rich proteins through endocytosis, generating cystine via lysosomal proteolysis. Here we report that defective cystine mobilization from ...
ORGANISM(S): Mus musculus (Mouse) 
2025-05-13 | PXD040450 | Pride
Cystinosis Fanconi syndrome Ctns Mtorc1 Kidney failure 
MetabolomicsMetabolomic profiling of primary mouse proximal tubule cells (mPTCs) derived from 24-week-old CTR and Atg7 PT-KO kidneys
To explore the role of ATG7 in the kidney PT, we crossed mice homozygous for floxed alleles of Atg7 with Ggt1-Cre mice expressing Cre recombinase under the rat Ggt1 (gamma-glutamyltransferase 1) gene promoter. This generated Atg7fl/fl; γGt1cre/cre mice (hereafter referred to as Atg7 PT-KO), in which...
2026-09-30 | MTBLS15857 | MetaboLights
MetabolomicsHigh-resolution LC-MS/MS lipidomics characterization of wild-type and ATG7-deficient mouse renal proximal tubule cells
This study provides an untargeted lipidomics investigation of ATG7-deficient (cKO) mouse renal proximal tubule cells compared to wild-type (WT) controls to evaluate lipidomic alterations associated with autophagy deficiency. Lipids were extracted from cell culture wells using a single-phase isopropa...
2026-09-30 | MTBLS15861 | MetaboLights
MetabolomicsUrine metabolomic profiling in two siblings with biallelic pathogenic ATG7 variants with healthy control
Ultra-rare biallelic ATG7 variants were recently reported in five families presenting with neurodevelopmental disorders. Two adult female siblings (P1 and P2) from one family carried compound heterozygous loss-of-function variants (c.1975C>T [p.Arg659]; c.2080-2A>G, 39,40NM_006395.2), resulting in u...
2026-09-30 | MTBLS15856 | MetaboLights
UnknownA pathogenic role for cystic fibrosis transmembrane conductance regulator in celiac disease
Not available
S-SCDT-EMBOJ-2018-100101 | biostudies-other
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