Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy

Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy

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http://www.wikidata.org/entity/Q28276041
Over-expression of a functionally active human GM2-activator protein in Escherichia coliMutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher diseaseGene therapy for metachromatic leukodystrophy.Identification of a novel sequence involved in lysosomal sorting of the sphingolipid activator protein prosaposin.The exon 8-containing prosaposin gene splice variant is dispensable for mouse development, lysosomal function, and secretion.Cellular uptake of saposin (SAP) precursor and lysosomal delivery by the low density lipoprotein receptor-related protein (LRP).Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy.Correction of sulfatide metabolism after transfer of prosaposin cDNA to cultured cells from a patient with SAP-1 deficiencyAnalysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy.Sulfatide is required for efficient replication of influenza A virus.Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.Intracellular trafficking of glycosphingolipids: role of sphingolipid activator proteins in the topology of endocytosis and lysosomal digestion.Proteolytic processing patterns of prosaposin in insect and mammalian cells.Further evidence that human lysosomal sialidase is not derived from prosaposin. Prosaposin biosynthesis and ganglioside sialidase studies in prosaposin- and sialidase-deficient fibroblast lines.Lysosomal storage diseases: heterogeneous group of disordersHuman lysosomal alpha-glucosidase: functional characterization of the glycosylation sites.Structural and membrane-binding properties of saposin D
P2860

Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy

Item
http://www.wikidata.org/entity/Q28276041
description
1990 nî lūn-bûn
@nan
1990 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Detection of a point mutation ...... f metachromatic leukodystrophy
@ast
Detection of a point mutation ...... f metachromatic leukodystrophy
@en
Detection of a point mutation ...... f metachromatic leukodystrophy
@nl
type
label
Detection of a point mutation ...... f metachromatic leukodystrophy
@ast
Detection of a point mutation ...... f metachromatic leukodystrophy
@en
Detection of a point mutation ...... f metachromatic leukodystrophy
@nl
prefLabel
Detection of a point mutation ...... f metachromatic leukodystrophy
@ast
Detection of a point mutation ...... f metachromatic leukodystrophy
@en
Detection of a point mutation ...... f metachromatic leukodystrophy
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
Detection of a point mutation ...... f metachromatic leukodystrophy
@en
P2093
P304
P31
P356
10.1016/0006-291X(90)90912-7
P407
P433
P478
P577
P698