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

Free sialic acid storage disorder (FSASD) is an autosomal recessive lysosomal storage disease caused by biallelic pathogenic variants in SLC17A5, which encodes the lysosomal sialic acid transporter, sialin. FSASD is characterized by excessive lysosomal free sialic acid accumulation, leading to eithe...

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Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Marya S. Sabir, Kostantin Dobrenis, Allisandra K. Rha, Laura Pollard, Petcharat Leoyklang, Mariah Marrero, Carla Ciccone, Mary E. Hackbarth, Marjan Huizing, Raymond Y. Wang, William A. Gahl, Frances M. Platt, May Christine V. Malicdan
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Elsevier 2025-12-01
Σειρά:	Molecular Genetics and Metabolism Reports
Θέματα:	Salla disease Sialin Gangliosides Neuraminidase Mouse embryonic fibroblasts HEK-293 T
Διαθέσιμο Online:	http://www.sciencedirect.com/science/article/pii/S2214426925000904
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