Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease
Large population-based studies of Parkinson's disease (PD) have identified susceptibility genes, including SLC17A5. Biallelic mutations in SLC17A5, encoding the lysosomal sialic acid transporter sialin, cause the rare neurodegenerative disease, free sialic acid storage disorder (FSASD). To expl...
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| Format: | Article |
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Elsevier
2025-06-01
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| Series: | Biochemistry and Biophysics Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405580825000664 |
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| author | Marya S. Sabir Mahin S. Hossain Laura Pollard Marjan Huizing William A. Gahl Frances M. Platt May Christine V. Malicdan |
| author_facet | Marya S. Sabir Mahin S. Hossain Laura Pollard Marjan Huizing William A. Gahl Frances M. Platt May Christine V. Malicdan |
| author_sort | Marya S. Sabir |
| collection | DOAJ |
| description | Large population-based studies of Parkinson's disease (PD) have identified susceptibility genes, including SLC17A5. Biallelic mutations in SLC17A5, encoding the lysosomal sialic acid transporter sialin, cause the rare neurodegenerative disease, free sialic acid storage disorder (FSASD). To explore a potential biochemical link between FSASD and PD, we investigated ganglioside concentrations in a novel mouse model harboring the Slc17a5 p.Arg39Cys (p.R39C) variant. Our analysis revealed no significant alterations in ganglioside concentrations in heterozygous p.R39C mice, warranting further studies into other potential links between PD and sialin defects. |
| format | Article |
| id | doaj-art-d934fba7bbf34be295d7ec59cb311432 |
| institution | OA Journals |
| issn | 2405-5808 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Biochemistry and Biophysics Reports |
| spelling | doaj-art-d934fba7bbf34be295d7ec59cb3114322025-08-20T02:01:05ZengElsevierBiochemistry and Biophysics Reports2405-58082025-06-014210197910.1016/j.bbrep.2025.101979Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's diseaseMarya S. Sabir0Mahin S. Hossain1Laura Pollard2Marjan Huizing3William A. Gahl4Frances M. Platt5May Christine V. Malicdan6UDP 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, UKHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USABiochemical Genetics Laboratory, Greenwood Genetic Center, Greenwood, SC, USAHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USAUDP 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, USADepartment of Pharmacology, University of Oxford, Oxford, UK; Corresponding author. Department of Pharmacology, University of Oxford, UK.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; Corresponding author. National Human Genome Research Institute, National Institutes of Health, USA.Large population-based studies of Parkinson's disease (PD) have identified susceptibility genes, including SLC17A5. Biallelic mutations in SLC17A5, encoding the lysosomal sialic acid transporter sialin, cause the rare neurodegenerative disease, free sialic acid storage disorder (FSASD). To explore a potential biochemical link between FSASD and PD, we investigated ganglioside concentrations in a novel mouse model harboring the Slc17a5 p.Arg39Cys (p.R39C) variant. Our analysis revealed no significant alterations in ganglioside concentrations in heterozygous p.R39C mice, warranting further studies into other potential links between PD and sialin defects.http://www.sciencedirect.com/science/article/pii/S2405580825000664Parkinson's diseaseSalla diseaseSLC17A5SialinGlycosphingolipidsMouse model |
| spellingShingle | Marya S. Sabir Mahin S. Hossain Laura Pollard Marjan Huizing William A. Gahl Frances M. Platt May Christine V. Malicdan Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease Biochemistry and Biophysics Reports Parkinson's disease Salla disease SLC17A5 Sialin Glycosphingolipids Mouse model |
| title | Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease |
| title_full | Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease |
| title_fullStr | Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease |
| title_full_unstemmed | Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease |
| title_short | Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease |
| title_sort | lack of significant ganglioside changes in slc17a5 heterozygous mice relevance to fsasd and parkinson s disease |
| topic | Parkinson's disease Salla disease SLC17A5 Sialin Glycosphingolipids Mouse model |
| url | http://www.sciencedirect.com/science/article/pii/S2405580825000664 |
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