Enzymic diagnosis of the genetic mucopolysaccharide storage disorders.
about
Sorting of non-glycosylated human procathepsin S in mammalian cellsAntenatal diagnosis of mucopolysaccharidosis type I (Hurler's disease) is not possible by electron microscopy of uncultured amniotic fluid cellsBuilding a multichain receptor: synthesis, degradation, and assembly of the T-cell antigen receptor.Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girlComplementation of multiple sulfatase deficiency in somatic cell hybridsDetection of hunter heterozygotes by enzymatic analysis of hair rootsMyotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients.Canine alpha-L-iduronidase deficiency. A model of mucopolysaccharidosis I.The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I.Exocytosis of pinocytic contents by Chinese hamster ovary cells.Monensin inhibits intracellular dissociation of asialoglycoproteins from their receptor.Evidence that diphtheria toxin and modeccin enter the cytosol from different vesicular compartmentsLysosomal accumulation of the hormone-receptor complex during receptor-mediated endocytosis of human choriogonadotropin.Lysosomal enzyme trafficking in mannose 6-phosphate receptor-positive mouse L-cells: demonstration of a steady state accumulation of phosphorylated acid hydrolasesLimited and selective transfer of plasma membrane glycoproteins to membrane of secondary lysosomes.Postendocytic maturation of acid hydrolases: evidence of prelysosomal processing.Expression of human cathepsin D in Xenopus oocytes: phosphorylation and intracellular targetingSerum factors alter the extent of dephosphorylation of ligands endocytosed via the mannose 6-phosphate/insulin-like growth factor II receptor.Cytolytic activity of purified cytoplasmic granules from cytotoxic rat large granular lymphocyte tumorsExperimental animal model for mucopolysaccharidosis: suramin-induced glycosaminoglycan and sphingolipid accumulation in the rat.Cell- and ligand-specific dephosphorylation of acid hydrolases: evidence that the mannose 6-phosphatase is controlled by compartmentalization.Rapid cell surface appearance of endocytic membrane proteins in Chinese hamster ovary cellsDirect demonstration of binding of a lysosomal enzyme, alpha-L-iduronidase, to receptors on cultured fibroblastsJoint contractures in the absence of inflammation may indicate mucopolysaccharidosis.Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.A canine model of human alpha-L-iduronidase deficiency.Overview of the mucopolysaccharidoses.Mucopolysaccharidoses.Basic fibroblast growth factor does not prevent heparan sulphate proteoglycan catabolism in intact cells, but it alters the distribution of the glycosaminoglycan degradation products.Structure of heparan sulphate oligosaccharides and their degradation by exo-enzymes.Variants of vaccinia virus hemagglutinin altered in intracellular transport.The half-life of human procathepsin S.Endosomal association of a protein phosphatase with high dephosphorylating activity against a coronavirus nucleocapsid protein.The Alzheimer beta-amyloid protein precursor/protease nexin-II is cleaved by secretase in a trans-Golgi secretory compartment in human neuroglioma cells.Impaired clearance of free cystine from lysosome-enriched granular fractions of I-cell-disease fibroblasts.Glucuronate-2-sulphatase activity in cultured human skin fibroblast homogenates.The vacuolar protein-targeting signal of yeast carboxypeptidase is functional in oocytes from Xenopus laevis.Different behaviors among lysosomal enzymes in the cerebellum of jaundiced Gunn rats with cerebellar hypoplasia.Lysosomal storage disorders for the pediatric rheumatologist: the example of mucopolysaccharydoses.
P2860
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P2860
Enzymic diagnosis of the genetic mucopolysaccharide storage disorders.
description
1978 nî lūn-bûn
@nan
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
1978年论文
@zh
1978年论文
@zh-cn
name
Enzymic diagnosis of the genetic mucopolysaccharide storage disorders.
@en
type
label
Enzymic diagnosis of the genetic mucopolysaccharide storage disorders.
@en
prefLabel
Enzymic diagnosis of the genetic mucopolysaccharide storage disorders.
@en
P2093
P1476
Enzymic diagnosis of the genetic mucopolysaccharide storage disorders.
@en
P2093
P304
P356
10.1016/0076-6879(78)50048-7
P407
P577
1978-01-01T00:00:00Z