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
Description
ISSN:1090-2430
DOI:10.1016/j.expneurol.2026.115665