Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency.

The lysosomal catabolism of sulfatide requires arylsulfatase A and a specific sphingolipid activator protein, SAP-1. While most patients with metachromatic leukodystrophy have mutations in the gene for arylsulfatase A, some patients have deficient SAP-1, as determined by immunological techniques. We...

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Опубликовано в::	Proc Natl Acad Sci U S A
Главные авторы:	Zhang, X L, Rafi, M A, DeGala, G, Wenger, D A
Формат:	Artigo
Язык:	Inglês
Опубликовано:	National Academy of Sciences 1990
Предметы:	Research Article
Online-ссылка:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC53488/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1689485/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.87.4.1426
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