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Here we used complexome profiling to characterize the functional consequences of RTN4IP1 mutations in RTN4IP1 cells.
ORGANISM(S): Homo sapiens (Human) 
2025-08-08 | PXD064861 | Pride
A biochemical deficiency of mitochondrial complex I (CI) underlies ~30% of cases of primary mitochondrial disease, yet the inventory of molecular machinery required for CI assembly remains incomplete. We previously characterised patients with isolated CI deficiency caused by segregating variants in ...
ORGANISM(S): Homo sapiens (Human) 
2025-08-08 | PXD055511 | Pride

This study funded by the National Cancer Institute (NCI) involves conducting a genome-wide association study of common genetic variants to identify markers of susceptibility to bladder cancer.

This bladder GWAS has led to the discovery of three novel regions in the genome associated with...

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