ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2007
Sulfatide storage in neurons causes hyperexcitability and axonal degeneration in a mouse model of metachromatic leukodystrophy.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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30 citing papers in PubMed, 69 citations in OpenAlex.
- A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.NPJ genomic medicine · 2025Article
- Single Systemic Administration of a Gene Therapy Leading to Disease Treatment in Metachromatic LeukodystrophyThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Article
- Utilizing hiPSC-derived oligodendrocytes to study myelin pathophysiology in neuropsychiatric and neurodegenerative disorders.Frontiers in cellular neuroscience · 2023Review
- Generation and characterization of motor neuron progenitors and motor neurons using metachromatic leukodystrophy-induced pluripotent stem cells.Molecular genetics and metabolism reports · 2022Article
- Therapeutic Effects of Myriocin in Experimental Alcohol-Related Neurobehavioral Dysfunction and Frontal Lobe White Matter Biochemical Pathology.Journal of behavioral and brain science · 2022Article
- T2-Pseudonormalization and Microstructural Characterization in Advanced Stages of Late-infantile Metachromatic Leukodystrophy.Clinical neuroradiology · 2021Article
- Deregulation of signalling in genetic conditions affecting the lysosomal metabolism of cholesterol and galactosyl-sphingolipids.Neurobiology of disease · 2020Review
- Lyso-glycosphingolipids: presence and consequences.Essays in biochemistry · 2020Review
- Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective.Orphanet journal of rare diseases · 2019Review
- Dysregulation of schizophrenia-related aquaporin 3 through disruption of paranode influences neuronal viability.Journal of neurochemistry · 2018Article
- Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy.Cell death & disease · 2018Article
- Imaging mass spectrometry of frontal white matter lipid changes in human alcoholics.Alcohol (Fayetteville, N.Y.) · 2018Article
- Article
- Altered temporal lobe white matter lipid ion profiles in an experimental model of sporadic Alzheimer's disease.Molecular and cellular neurosciences · 2017Article
- Novel molecular insights into the critical role of sulfatide in myelin maintenance/function.Journal of neurochemistry · 2016Article
- Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy.Annals of clinical and translational neurology · 2015Article
- Alterations in mouse brain lipidome after disruption of CST gene: a lipidomics study.Molecular neurobiology · 2014Article
- Developing therapeutic approaches for metachromatic leukodystrophy.Drug design, development and therapy · 2013Review
- Role of sulfatide in normal and pathological cells and tissues.Journal of lipid research · 2012Review
- Flow injection tandem mass spectrometric measurement of ceramides of multiple chain lengths in biological samples.Journal of chromatography. B, Analytical technologies in the biomedical and life sciences · 2012Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Metachromatic leukodystrophy is a lysosomal storage disorder caused by deficiency in the sulfolipid degrading enzyme arylsulfatase A (ASA). In the absence of a functional ASA gene, 3-O-sulfogalactosylceramide (sulfatide; SGalCer) and other sulfolipids accumulate. The storage is associated with progressive demyelination and various finally lethal neurological symptoms. Lipid storage, however, is not restricted to myelin-producing cells but also occurs in neurons. It is unclear whether neuronal storage contributes to symptoms of the patients. Therefore, we have generated transgenic ASA-deficient [ASA(-/-)] mice overexpressing the sulfatide synthesizing enzymes UDP-galactose:ceramide galactosyltransferase (CGT) and cerebroside sulfotransferase (CST) in neurons to provoke neuronal lipid storage. CGT-transgenic ASA(-/-) [CGT/ASA(-/-)] mice showed an accumulation of C18:0 fatty acid-containing SGalCer in the brain. Histochemically, an increase in sulfolipid storage could be detected in central and peripheral neurons of both CGT/ASA(-/-) and CST/ASA(-/-) mice compared with ASA(-/-) mice. CGT/ASA(-/-) mice developed severe neuromotor coordination deficits and weakness of hindlimbs and forelimbs. Light and electron microscopic analyses demonstrated nerve fiber degeneration in the spinal cord of CGT/ASA(-/-) mice. CGT/ASA(-/-) and, to a lesser extent, young ASA(-/-) mice exhibited cortical hyperexcitability, with recurrent spontaneous cortical EEG discharges lasting 5-15 s. These observations suggest that SGalCer accumulation in neurons contributes to disease phenotype.
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