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Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder.

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Title: Profiling glycosphingolipid changes in mouse and human cellular models 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., Dobrenis K; Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, USA., Rha AK; Research Institute, Children's Hospital of Orange County, Orange, CA, 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., Marrero M; Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, USA., Ciccone C; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Hackbarth ME; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, 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., Wang RY; Division of Metabolic Disorders, Children's Hospital of Orange County Specialists, Orange, CA, USA.; Department of Pediatrics, University of California-Irvine School of Medicine, Irvine, CA, USA., Gahl WA; 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., 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.
Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2025 Nov 08; Vol. 45, pp. 101275. Date of Electronic Publication: 2025 Nov 08 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
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  Data: Profiling glycosphingolipid changes in mouse and human cellular models 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="%22Dobrenis+K%22">Dobrenis K</searchLink>; Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, USA.<br /><searchLink fieldCode="AU" term="%22Rha+AK%22">Rha AK</searchLink>; Research Institute, Children's Hospital of Orange County, Orange, CA, 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="%22Marrero+M%22">Marrero M</searchLink>; Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, USA.<br /><searchLink fieldCode="AU" term="%22Ciccone+C%22">Ciccone C</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="%22Hackbarth+ME%22">Hackbarth ME</searchLink>; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, 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="%22Wang+RY%22">Wang RY</searchLink>; Division of Metabolic Disorders, Children's Hospital of Orange County Specialists, Orange, CA, USA.; Department of Pediatrics, University of California-Irvine School of Medicine, Irvine, CA, USA.<br /><searchLink fieldCode="AU" term="%22Gahl+WA%22">Gahl WA</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="%22Platt+FM%22">Platt FM</searchLink>; Department of Pharmacology, University of Oxford, Oxford, 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.
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  Data: <searchLink fieldCode="JN" term="%22101624422%22">Molecular genetics and metabolism reports</searchLink> [Mol Genet Metab Rep] 2025 Nov 08; Vol. 45, pp. 101275. <i>Date of Electronic Publication: </i>2025 Nov 08 (<i>Print Publication: </i>2025).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Inc%22">Elsevier Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101624422 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2214-4269 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222144269%22">22144269 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Metab Rep <i>Subsets: </i>PubMed not MEDLINE
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              Text: 2025 Nov 08
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