Banning, A.; Laine, M.; Tikkanen, R. Validation of Aspartylglucosaminidase Activity Assay for Human Serum Samples: Establishment of a Biomarker for Diagnostics and Clinical Studies. Int. J. Mol. Sci.2023, 24, 5722.
Banning, A.; Laine, M.; Tikkanen, R. Validation of Aspartylglucosaminidase Activity Assay for Human Serum Samples: Establishment of a Biomarker for Diagnostics and Clinical Studies. Int. J. Mol. Sci. 2023, 24, 5722.
Banning, A.; Laine, M.; Tikkanen, R. Validation of Aspartylglucosaminidase Activity Assay for Human Serum Samples: Establishment of a Biomarker for Diagnostics and Clinical Studies. Int. J. Mol. Sci.2023, 24, 5722.
Banning, A.; Laine, M.; Tikkanen, R. Validation of Aspartylglucosaminidase Activity Assay for Human Serum Samples: Establishment of a Biomarker for Diagnostics and Clinical Studies. Int. J. Mol. Sci. 2023, 24, 5722.
Abstract
Novel treatment strategies are emerging for rare, genetic diseases, resulting in clinical trials that require adequate biomarkers for the assessment of the treatment effect. For enzyme defects, biomarkers that can be assessed from patient serum, such as enzyme activity, are highly useful, but the activity assays need to be properly validated to ensure a precise, quantitative measurement. Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by the deficiency of the lysosomal hydrolase aspartylglucosaminidase (AGA). We have here established and validated a fluorometric AGA activity assay for human serum samples from healthy volunteers and AGU patients. We show that the validated AGA activity assay is suitable for the assessment of AGA activity in the serum of healthy controls and AGU patients, and it can be used for diagnostics of AGU and, potentially, for following a treatment effect.
Keywords
Aspartylglucosaminuria; lysosomal storage disorders; biomarkers; protein glycosylation; enzymes
Subject
MEDICINE & PHARMACOLOGY, Pediatrics
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
