ArticleMolecular therapy : the journal of the American Society of Gene Therapy2017
Near-Complete Correction of Profound Metabolomic Impairments Corresponding to Functional Benefit in MPS IIIB Mice after IV rAAV9-hNAGLU Gene Delivery.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 16 citations in OpenAlex.
- Resveratrol Improves Memory and Reduces Neuroinflammation in an MPS IIIB Mouse Model.Neurochemical research · 2026Article
- Short-Term Oral Spermidine Supplementation Modifies Aspects of Neurodegenerative Disease in Flies and Mice With MPS III.Journal of inherited metabolic disease · 2026Article
- A Drosophila model of mucopolysaccharidosis IIIB.Genetics · 2025Article
- Intracerebral lentiviral ABCD1 gene therapy in an early disease onset ALD mouse model.Gene therapy · 2023Article
- Disease correction in mucopolysaccharidosis type IIIB mice by intraparenchymal or cisternal delivery of a capsid modified AAV8 codon-optimized NAGLU vector.Human molecular genetics · 2023Article
- Understanding Inborn Errors of Metabolism through Metabolomics.Metabolites · 2022Review
- Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art.International journal of molecular sciences · 2021Review
- Intravenous delivery for treatment of mucopolysaccharidosis type I: A comparison of AAV serotypes 9 and rh10.Molecular genetics and metabolism reports · 2020Article
- Precision Medicine for Lysosomal Disorders.Biomolecules · 2020Review
- Targeted Metabolomic Analysis of a Mucopolysaccharidosis IIIB Mouse Model Reveals an Imbalance of Branched-Chain Amino Acid and Fatty Acid Metabolism.International journal of molecular sciences · 2020Article
- Metabolomics profiling reveals profound metabolic impairments in mice and patients with Sandhoff disease.Molecular genetics and metabolism · 2019Article
- Gene therapy for Mucopolysaccharidoses.Molecular genetics and metabolism · 2018Review
- How close are we to therapies for Sanfilippo disease?Metabolic brain disease · 2018Review
- Serum global metabolomics profiling reveals profound metabolic impairments in patients with MPS IIIA and MPS IIIB.Metabolic brain disease · 2017Article
- A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study.Medicine · 2017Observational
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Mucopolysaccharidosis (MPS) IIIB is a lysosomal storage disease with complex CNS and somatic pathology due to a deficiency in α-N-acetylglucosaminidase (NAGLU). Using global metabolic profiling by mass spectrometry targeting 361 metabolites, this study detected significant decreases in 225 and increases in six metabolites in serum samples from 7-month-old MPS IIIB mice, compared to wild-type (WT) mice. The metabolic disturbances involve virtually all major pathways of amino acid, peptide (58/102), carbohydrate (18/28), lipid (111/139), nucleotide (12/24), energy (2/9), vitamin and cofactor (11/16), and xenobiotic (11/28) metabolism. Notably, the reduced metabolites included eight essential amino acids, vitamins (C, E, B2, and B6), and neurotransmitters (serotonin, glutamate, aspartate, tryptophan, and N-acetyltyrosine). The metabolic impairments appear to emerge early during disease progression before the age of 2 months. Importantly, the restoration of NAGLU activity with an intravenous (i.v.) injection of rAAV9-hNAGLU vector led to near-complete correction of all serum metabolite abnormalities, with 201 (87%) metabolites normalized and 30 (13%) over-corrected. While the mechanisms are unclear, our data demonstrate that the lack of NAGLU activity triggers profound functional metabolic disturbances in MPS IIIB. These metabolic impairments respond well to a systemic rAAV9-hNAGLU gene delivery, supporting the surrogate biomarker potential of serum metabolomic profiles for MPS IIIB therapies.
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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.