ArticleProceedings of the National Academy of Sciences of the United States of America2012
Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 76 citations in OpenAlex.
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- Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.Biomolecules · 2025Review
- Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.Clinical genetics · 2025Article
- Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and Beyond.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2024Review
- Mucopolysaccharidosis Type IIIE: A Real Human Disease or a Diagnostic Pitfall?Diagnostics (Basel, Switzerland) · 2024Review
- Identification of a potential prognostic model combining pyroptosis-related gene with immune microenvironment for pancreatic ductal adenocarcinoma.Journal of cancer research and clinical oncology · 2023Article
- An Overview of Canine Inherited Neurological Disorders with Known Causal Variants.Animals : an open access journal from MDPI · 2023Review
- Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.Human genetics · 2022Article
- Mucopolysaccharidoses and the blood-brain barrier.Fluids and barriers of the CNS · 2022Review
- Misdiagnosis in mucopolysaccharidoses.Journal of applied genetics · 2022Review
- Mammalian Sulfatases: Biochemistry, Disease Manifestation, and Therapy.International journal of molecular sciences · 2022Review
- Sperm DNA methylation patterns at discrete CpGs and genes involved in embryonic development are related to bull fertility.BMC genomics · 2022Article
- Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach.Journal of multidisciplinary healthcare · 2022Review
- An EngineeredInternational journal of molecular sciences · 2021Article
- Optogenetic Stimulation of Prelimbic Pyramidal Neurons Maintains Fear Memories and Modulates Amygdala Pyramidal Neuron Transcriptome.International journal of molecular sciences · 2021Article
- Mucopolysaccharidosis III: Molecular basis and treatment.Pediatric endocrinology, diabetes, and metabolism · 2021Review
- Temporospatial Development of Neuropathologic Findings in a Canine Model of Mucopolysaccharidosis IIIB.Veterinary pathology · 2021Article
- Failures of Endochondral Ossification in the Mucopolysaccharidoses.Current osteoporosis reports · 2020Review
- Atypical and ultra-rare Usher syndrome: a review.Ophthalmic genetics · 2020Review
- Arylsulfatase K inactivation causes mucopolysaccharidosis due to deficient glucuronate desulfation of heparan and chondroitin sulfate.The Biochemical journal · 2020Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
Abstract
Deficiency of glycosaminoglycan (GAG) degradation causes a subclass of lysosomal storage disorders called mucopolysaccharidoses (MPSs), many of which present with severe neuropathology. Critical steps in the degradation of the GAG heparan sulfate remain enigmatic. Here we show that the lysosomal arylsulfatase G (ARSG) is the long-sought glucosamine-3-O-sulfatase required to complete the degradation of heparan sulfate. Arsg-deficient mice accumulate heparan sulfate in visceral organs and the central nervous system and develop neuronal cell death and behavioral deficits. This accumulated heparan sulfate exhibits unique nonreducing end structures with terminal N-sulfoglucosamine-3-O-sulfate residues, allowing diagnosis of the disorder. Recombinant human ARSG is able to cleave 3-O-sulfate groups from these residues as well as from an authentic 3-O-sulfated N-sulfoglucosamine standard. Our results demonstrate the key role of ARSG in heparan sulfate degradation and strongly suggest that ARSG deficiency represents a unique, as yet unknown form of MPS, which we term MPS IIIE.
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Registered trials
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.