Kuang Shen

LONP-1 deficiency causes dysregulated protein synthesis within mitochondria that is restored by mitoribosomal mutations

This study shows that LONP-1 deficiency disrupts mitochondrial protein synthesis and DNA replication in C. elegans, which is partially restored by mutations in mitochondrial ribosome proteins.

Rag GTPases Suppress Renal Cystic Disease by Inhibiting TFEB Independently of mTORC1

This study shows that Rag GTPases suppress renal cystic disease by inhibiting TFEB, independent of mTORC1, and identifies nuclear TFEB as a better biomarker than mTORC1 activation.

mTOR-activating mutations in RRAGD cause kidney tubulopathy and cardiomyopathy (KICA) syndrome

The paper identifies mTOR-activating mutations in RRAGD causing kidney tubulopathy and cardiomyopathy (KICA) syndrome through genetic and functional analyses of patient cohorts.