ArticleJournal of neuropathology and experimental neurology2011
Cerebellar alterations and gait defects as therapeutic outcome measures for enzyme replacement therapy in α-mannosidosis.
Article in Journal of neuropathology and experimental neurology, 2011. 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, 25 citations in OpenAlex.
- Alpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- MAN2B1 in immune system-related diseases, neurodegenerative disorders and cancers: functions beyond α-mannosidosis.Expert reviews in molecular medicine · 2024Review
- Brain transcriptome analysis reveals gene expression differences associated with dispersal behaviour between range-front and range-core populations of invasive cane toads in Australia.Molecular ecology · 2022Article
- Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases.Frontiers in molecular biosciences · 2020Review
- GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB.Journal of veterinary internal medicine · 2017Article
- A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease.Disease models & mechanisms · 2016Article
- Diffusion Tensor Imaging for Assessing Brain Gray and White Matter Abnormalities in a Feline Model of α-Mannosidosis.Journal of neuropathology and experimental neurology · 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
- Natural history of alpha mannosidosis a longitudinal study.Orphanet journal of rare diseases · 2013Observational
- Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice.Brain : a journal of neurology · 2012Article
- Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Disruption of the autophagy-lysosome pathway is involved in neuropathology of the nclf mouse model of neuronal ceroid lipofuscinosis.PloS one · 2012Article
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
Abstract
α-Mannosidosis is a rare lysosomal storage disease with accumulation of undegraded mannosyl-linked oligosaccharides in cells throughout the body, most notably in the CNS. This leads to a broad spectrum of neurological manifestations, including progressive intellectual impairment, disturbed motor functions, and cerebellar atrophy. To develop therapeutic outcome measures for enzyme replacement therapy that could be used for human patients, a gene knockout model of α-mannosidosis in mice was analyzed for CNS pathology and motor deficits. In the cerebellar molecular layer, α-mannosidosis mice display clusters of activated Bergman glia, infiltration of phagocytic macrophages, and accumulation of free cholesterol and gangliosides (GM1), notably in regions lacking Purkinje cells. α-Mannosidosis brain lysates also displayed increased expression of Lamp1 and hyperglycosylation of the cholesterol binding protein NPC2. Detailed assessment of motor function revealed age-dependent gait defects in the mice that resemble the disturbed motor function in human patients. Short-term enzyme replacement therapy partially reversed the observed cerebellar pathology with fewer activated macrophages and astrocytes but unchanged levels of hyperglycosylated NPC2, gangliosides, and cholesterol. The present study demonstrates cerebellar alterations in α-mannosidosis mice that relate to the motor deficits and pathological changes seen in human patients and can be used as therapeutic outcome measures.
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