Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease

IF 2.3 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY

Biochemistry and Biophysics Reports Pub Date : 2025-03-14 DOI:10.1016/j.bbrep.2025.101979

Marya S. Sabir , Mahin S. Hossain , Laura Pollard , Marjan Huizing , William A. Gahl , Frances M. Platt , May Christine V. Malicdan

引用次数: 0

Abstract

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.

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来源期刊

Biochemistry and Biophysics Reports Biochemistry, Genetics and Molecular Biology-Biophysics

CiteScore

4.60

自引率

0.00%

发文量

191

审稿时长

59 days

期刊介绍： Open access, online only, peer-reviewed international journal in the Life Sciences, established in 2014 Biochemistry and Biophysics Reports (BB Reports) publishes original research in all aspects of Biochemistry, Biophysics and related areas like Molecular and Cell Biology. BB Reports welcomes solid though more preliminary, descriptive and small scale results if they have the potential to stimulate and/or contribute to future research, leading to new insights or hypothesis. Primary criteria for acceptance is that the work is original, scientifically and technically sound and provides valuable knowledge to life sciences research. We strongly believe all results deserve to be published and documented for the advancement of science. BB Reports specifically appreciates receiving reports on: Negative results, Replication studies, Reanalysis of previous datasets.