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 <i>SLC17A5</i>. Biallelic mutations in <i>SLC17A5</i>, 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 <i>Slc17a5</i> 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.
Authors
- Marya S. Sabir (ORCID: https://orcid.org/0000-0001-6333-4049)
- Mahin Hossain
- May Christine V. Malicdan (ORCID: https://orcid.org/0000-0003-1697-6959)
- Frances M. Platt (ORCID: https://orcid.org/0000-0001-7614-0403)
- William A. Gahl (ORCID: https://orcid.org/0000-0002-2494-6752)
- Marjan Huizing (ORCID: https://orcid.org/0000-0002-9375-9539)
- Laura Pollard
Institutions
- National Institutes of Health (US)
- University of Oxford (GB)
- National Human Genome Research Institute (US)
- Science Oxford (GB)
- Greenwood Genetic Center (US)
Publication Details
- Journal
- Biochemistry and Biophysics Reports
- Published
- 2025-03-14
- DOI
- https://doi.org/10.1016/j.bbrep.2025.101979
- Citations
- 1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 1.16
Funders
- National Institutes of Health
- National Human Genome Research Institute