Brian P. Mooney

Biofluid Proteomic Biomarker Discovery in a Large Animal Model of CLN2 Neuronal Ceroid Lipofuscinosis

CLN2 disease is a fatal lysosomal storage disorder caused by deficiency of the lysosomal enzyme tripeptidyl peptidase 1 (TPP1), resulting in progressive neurodegeneration and non-neuronal pathology. While enzyme replacement therapy has improved disease management, there remains a critical need for objective molecular b...