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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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2025-12-01
Colecção:	Molecular Genetics and Metabolism Reports
Assuntos:	Salla disease Sialin Gangliosides Neuraminidase Mouse embryonic fibroblasts HEK-293 T
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S2214426925000904
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