ArticleJournal of inherited metabolic disease2010
Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice.
Article in Journal of inherited metabolic disease, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 27 citations in OpenAlex.
- Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose-6-Phosphorylation and Cellular Uptake of Aspartylglucosaminidase.Journal of inherited metabolic disease · 2026Article
- Targeting the central nervous system in lysosomal storage diseases: Strategies to deliver therapeutics across the blood-brain barrier.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Review
- Topological Structural Brain Connectivity Alterations in Aspartylglucosaminuria: A Case-Control Study.AJNR. American journal of neuroradiology · 2023Article
- The Finnish genetic heritage in 2022 - from diagnosis to translational research.Disease models & mechanisms · 2022Review
- Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series.JIMD reports · 2021Article
- Pre-clinical Gene Therapy with AAV9/AGA in Aspartylglucosaminuria Mice Provides Evidence for Clinical Translation.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Article
- Statistical Permutation Test Reveals Progressive and Region-Specific Iron Accumulation in the Thalami of Children with Aspartylglucosaminuria.Brain sciences · 2020Article
- Review
- Susceptibility-Weighted Imaging Findings in Aspartylglucosaminuria.AJNR. American journal of neuroradiology · 2019Article
- Aspartylglycosaminuria: a review.Orphanet journal of rare diseases · 2016Review
- Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria.Scientific reports · 2016Article
- Chronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis mice.Annals of clinical and translational neurology · 2015Article
- Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry.Orphanet journal of rare diseases · 2014Article
- Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent.JIMD reports · 2014Article
- Potential role of CYP2D6 in the central nervous system.Xenobiotica; the fate of foreign compounds in biological systems · 2013Article
- Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to reality.Journal of inherited metabolic disease · 2011Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aspartylglycosaminuria (AGU) is a lysosomal storage disease caused by deficient activity of glycosylasparaginase (AGA), and characterized by motor and mental retardation. Enzyme replacement therapy (ERT) in adult AGU mice with AGA removes the accumulating substance aspartylglucosamine from and reverses pathology in many somatic tissues, but has only limited efficacy in the brain tissue of the animals. In the current work, ERT of AGU mice was initiated at the age of 1 week with three different dosage schedules of recombinant glycosylasparaginase. The animals received either 3.4 U of AGA/kg every second day for 2 weeks (Group 1), 1.7 U/kg every second day for 9 days followed by an enzyme injection once a week for 4 weeks (Group 2) or 17 U/kg at the age of 7 and 9 days (Group 3). In the Group 1 and Group 3 mice, ERT reduced the amount of aspartylglucosamine by 34 and 41% in the brain tissue, respectively. No therapeutic effect was observed in the brain tissue of Group 2 mice. As in the case of adult AGU mice, the AGA therapy was much more effective in the somatic tissues than in the brain tissue of the newborn AGU mice. The combined evidence demonstrates that a high dose ERT with AGA in newborn AGU mice is up to twofold more effective in reducing the amount of the accumulated storage material from the brain tissue than ERT in adult AGU animals, indicating the importance of early detection and treatment of the disease.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.