ArticleHuman molecular genetics2015
Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).
Article in Human molecular genetics, 2015. 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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16 citing papers in PubMed, 31 citations in OpenAlex.
- Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.Clinical genetics · 2025Article
- The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.Human genetics · 2022Review
- Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach.Journal of multidisciplinary healthcare · 2022Review
- Article
- An EngineeredInternational journal of molecular sciences · 2021Article
- Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches.International journal of molecular sciences · 2020Review
- Atypical and ultra-rare Usher syndrome: a review.Ophthalmic genetics · 2020Review
- Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease.Journal of clinical medicine · 2020Review
- Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype.Scientific reports · 2019Article
- A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.Molecular genetics and metabolism · 2018Article
- Sensorimotor and Neurocognitive Dysfunctions Parallel Early Telencephalic Neuropathology in Fucosidosis Mice.Frontiers in behavioral neuroscience · 2018Article
- Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions.Neurobiology of disease · 2017Review
- Arylsulfatase K is the Lysosomal 2-Sulfoglucuronate Sulfatase.ACS chemical biology · 2017Article
- A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease.Disease models & mechanisms · 2016Article
- Sanfilippo syndrome: causes, consequences, and treatments.The application of clinical genetics · 2015Review
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Authors and funding
8 authors at 3 institutions in 2 countries.
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Abstract
Deficiency of arylsulfatase G (ARSG) leads to a lysosomal storage disease in mice resembling biochemical and pathological features of the mucopolysaccharidoses and particularly features of mucopolysaccharidosis type III (Sanfilippo syndrome). Here we show that Arsg KO mice share common neuropathological findings with other Sanfilippo syndrome models and patients, but they can be clearly distinguished by the limitation of most phenotypic alterations to the cerebellum, presenting with ataxia as the major neurological finding. We determined in detail the expression of ARSG in the central nervous system and observed highest expression in perivascular macrophages (which are characterized by abundant vacuolization in Arsg KO mice) and oligodendrocytes. To gain insight into possible mechanisms leading to ataxia, the pathology in older adult mice (>12 months) was investigated in detail. This study revealed massive loss of Purkinje cells and gliosis in the cerebellum, and secondary accumulation of glycolipids like GM2 and GM3 gangliosides and unesterified cholesterol in surviving Purkinje cells, as well as neurons of some other brain regions. The abundant presence of ubiquitin and p62-positive aggregates in degenerating Purkinje cells coupled with the absence of significant defects in macroautophagy is consistent with lysosomal membrane permeabilization playing a role in the pathogenesis of Arsg-deficient mice and presumably Sanfilippo disease in general. Our data delineating the phenotype of mucopolysaccharidosis IIIE in a mouse KO model should help in the identification of possible human cases of this disease.
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