Cryptic mitochondrial DNA mutations coincide with mid-late life and are pathophysiologically informative in single cells across tissues and species
Sign Up to like & getrecommendations! Published in 2025 at "Nature Communications"
DOI: 10.1038/s41467-025-57286-8
Abstract: Ageing is associated with a range of chronic diseases and has diverse hallmarks. Mitochondrial dysfunction is implicated in ageing, and mouse-models with artificially enhanced mitochondrial DNA mutation rates show accelerated ageing. A scarcely studied aspect… read more here.
Keywords: dna mutations; cryptic mutations; late life; mitochondrial dna ... See more keywords
Cryptic mutations of PLC family members in brain disorders: recent discoveries and a deep-learning-based approach
Sign Up to like & getrecommendations! Published in 2022 at "Brain"
DOI: 10.1093/brain/awac451
Abstract: Abstract Phospholipase C (PLC) is an essential isozyme involved in the phosphoinositide signalling pathway, which maintains cellular homeostasis. Gain- and loss-of-function mutations in PLC affect enzymatic activity and are therefore associated with several disorders. Alternative… read more here.
Keywords: mutations plc; brain; deep learning; learning based ... See more keywords