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Molecular and biochemical insights into dysregulation of glycosphingolipid metabolism in a mouse model of lysosomal free sialic acid storage disorder.

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Title: Molecular and biochemical insights into dysregulation of glycosphingolipid metabolism in a mouse model of lysosomal free sialic acid storage disorder.
Authors: Sabir MS; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; NIH Oxford-Cambridge Scholars Program, University of Oxford, Oxford, UK., Hossain MS; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Pollard L; Biochemical Genetics Laboratory, Greenwood Genetic Center, Greenwood, SC, USA., Leoyklang P; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Huizing M; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Gahl WA; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Platt FM; Department of Pharmacology, University of Oxford, Oxford, UK. Electronic address: frances.platt@pharm.ox.ac.uk., Malicdan MCV; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: maychristine.malicdan@nih.gov.
Source: Experimental neurology [Exp Neurol] 2026 May; Vol. 399, pp. 115665. Date of Electronic Publication: 2026 Jan 22.
Publication Type: Journal Article
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 0370712 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2430 (Electronic) Linking ISSN: 00144886 NLM ISO Abbreviation: Exp Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Molecular and biochemical insights into dysregulation of glycosphingolipid metabolism in a mouse model of lysosomal free sialic acid storage disorder.
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  Data: <searchLink fieldCode="AU" term="%22Sabir+MS%22">Sabir MS</searchLink>; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; NIH Oxford-Cambridge Scholars Program, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Hossain+MS%22">Hossain MS</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Pollard+L%22">Pollard L</searchLink>; Biochemical Genetics Laboratory, Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Leoyklang+P%22">Leoyklang P</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Huizing+M%22">Huizing M</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Gahl+WA%22">Gahl WA</searchLink>; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Platt+FM%22">Platt FM</searchLink>; Department of Pharmacology, University of Oxford, Oxford, UK. Electronic address: frances.platt@pharm.ox.ac.uk.<br /><searchLink fieldCode="AU" term="%22Malicdan+MCV%22">Malicdan MCV</searchLink>; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: maychristine.malicdan@nih.gov.
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  Data: <searchLink fieldCode="JN" term="%220370712%22">Experimental neurology</searchLink> [Exp Neurol] 2026 May; Vol. 399, pp. 115665. <i>Date of Electronic Publication: </i>2026 Jan 22.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Academic+Press%22">Academic Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370712 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1090-2430 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200144886%22">00144886 </searchLink><i>NLM ISO Abbreviation: </i>Exp Neurol <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.expneurol.2026.115665
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        Text: English
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      – TitleFull: Molecular and biochemical insights into dysregulation of glycosphingolipid metabolism in a mouse model of lysosomal free sialic acid storage disorder.
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              Text: 2026 May
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