William F. Mueller

This study tracks the clinical progression of NGLY1 Deficiency in 29 patients over 32 months, identifying key symptoms and biomarkers for future trial endpoints.

This study shows that loss of Drosophila N-glycanase 1 causes gut barrier defects, leading to immune activation and lipid catabolism, which contribute to lethality through non-infectious mechanisms.

The paper characterizes gene and protein expression changes in NGLY1 deficiency using patient-derived cells and provides a web resource for the data.

The paper identifies a recurrent tumor-specific transcript fusion between CDKN1A and RAB44 caused by splice-site mutations and shows its correlation with TP53 inactivation and CDK activation.