AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2
about
Evidence for two cDNA clones encoding human GM2-activator proteinVariant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificityDistribution of saposin proteins (sphingolipid activator proteins) in lysosomal storage and other diseasesStructure and distribution of an Alu-type deletion mutation in Sandhoff diseaseMutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher diseaseDifferentiation of two variants of type-AB GM2-gangliosidosis using chromogenic substratesConcentrations of an activator protein for sphingolipid hydrolysis in liver and brain samples from patients with lysosomal storage diseasesPresence of activator proteins for the enzymic hydrolysis of GM1 and GM2 gangliosides in normal human urineDramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseasesIdentification of a lysosomal protein causing lipid transfer, using a fluorescence assay designed to monitor membrane fusion between rat liver endosomes and lysosomesGene transfer corrects acute GM2 gangliosidosis--potential therapeutic contribution of perivascular enzyme flowGM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.Imaging MALDI mass spectrometry of sphingolipids using an oscillating capillary nebulizer matrix application system.The glycosphingolipidoses-from disease to basic principles of metabolism.Imaging mass spectrometry detection of gangliosides species in the mouse brain following transient focal cerebral ischemia and long-term recoveryRole of prosaposin in the male reproductive system: effect of prosaposin inactivation on the testis, epididymis, prostate, and seminal vesicles.Sphingolipid activator proteins: proteins with complex functions in lipid degradation and skin biogenesis.Genetic heterogeneity in metachromatic leukodystrophyLysosomal storage disorders: diagnostic dilemmas and prospects for therapy.Biosynthesis and degradation of mammalian glycosphingolipids.Neurobiology and cellular pathogenesis of glycolipid storage diseases.Correction of sulfatide metabolism after transfer of prosaposin cDNA to cultured cells from a patient with SAP-1 deficiencyAssignment of the gene for human sphingolipid activator protein-2 (SAP-2) to chromosome 10.Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy.Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator proteinThe biochemical genetics of the hexosaminidase system in man.Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.Ganglioside biochemistryLipid-binding proteins in membrane digestion, antigen presentation, and antimicrobial defense.Effect of structural modifications of ganglioside GM2 on intra-molecular carbohydrate-to-carbohydrate interaction and enzymatic susceptibility.Cloning and sequence analysis of a cDNA clone coding for the mouse GM2 activator proteinReversibility of neuropathology in Tay-Sachs-related diseases.Immunological evidence for deficiency in an activator protein for sulfatide sulfatase in a variant form of metachromatic leukodystrophy.Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency.The immunological functions of saposins.Lysosomal lipid storage diseases.On the structural elucidation of GalNAc-GD1a.My journey into the world of sphingolipids and sphingolipidoses.Pathogenic role of ganglioside metabolism in neurodegenerative diseases.Trafficking of lysosomal enzymes in normal and disease states.
P2860
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P2860
AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2
description
1978 nî lūn-bûn
@nan
1978 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1978 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1978年の論文
@ja
1978年論文
@yue
1978年論文
@zh-hant
1978年論文
@zh-hk
1978年論文
@zh-mo
1978年論文
@zh-tw
1978年论文
@wuu
name
AB variant of infantile GM2 ga ...... lioside GM2 and glycolipid GA2
@ast
AB variant of infantile GM2 ga ...... lioside GM2 and glycolipid GA2
@en
AB variant of infantile GM2 ga ...... lioside GM2 and glycolipid GA2
@nl
type
label
AB variant of infantile GM2 ga ...... lioside GM2 and glycolipid GA2
@ast
AB variant of infantile GM2 ga ...... lioside GM2 and glycolipid GA2
@en
AB variant of infantile GM2 ga ...... lioside GM2 and glycolipid GA2
@nl
prefLabel
AB variant of infantile GM2 ga ...... lioside GM2 and glycolipid GA2
@ast
AB variant of infantile GM2 ga ...... lioside GM2 and glycolipid GA2
@en
AB variant of infantile GM2 ga ...... lioside GM2 and glycolipid GA2
@nl
P2860
P3181
P356
P1476
AB variant of infantile GM2 ga ...... lioside GM2 and glycolipid GA2
@en
P2093
E Conzelmann
K Sandhoff
P2860
P304
P3181
P356
10.1073/PNAS.75.8.3979
P407
P577
1978-08-01T00:00:00Z