An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive ...
An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive clinical or genetic testing.
This correlates with defective lipidation of LC3B, probably caused by a deficiency of the autophagic membrane lipid phosphatidylethanolamine. The administration of the autophagy inducer trehalose ...