A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism

Publication date: Available online 4 September 2020Source: Molecular Genetics and MetabolismAuthor(s): Jana Marie Schwarz, Leonardo Pedrazza, Werner Stenzel, Jose Luis Rosa, Markus Schuelke, Rachel Straussberg

Source: Molecular Genetics and Metabolism - September 5, 2020 Category: Genetics & Stem Cells Source Type: research