https://elifesciences.org/articles/87147
The integrated analysis of multi-omics and functional evidence both in vitro and in knock-in mouse models reveal novel gain-of-function pathogenic mechanisms...
missense mutationscrxhomeodomaincausedominant
https://pubmed.ncbi.nlm.nih.gov/31131398/
Hydrolysis of cholesteryl esters and triglycerides in the lysosome is performed by lysosomal acid lipase (LAL). In this study we have investigated how 23...
missense mutationscharacterizationmechanisms
https://elifesciences.org/articles/66165
Autism-associated SHANK3 missense mutations result in differential protein folding, stability, and intramolecular dynamics affecting its turnover at the...
point mutationsautismassociatedmissenseimpact