Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
about
Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal regionThe molecular basis of Sanfilippo syndrome type BSulfatases and sulfatase modifying factors: an exclusive and promiscuous relationshipRecombinant human sulphamidase: expression, amplification, purification and characterizationSanfilippo syndrome: causes, consequences, and treatmentsFemale mucopolysaccharidosis IIIA mice exhibit hyperactivity and a reduced sense of danger in the open field testMutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutationMolecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implicationsA multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome)Mannose 6-phosphate receptor-mediated transport of sulfamidase across the blood-brain barrier in the newborn mouse.Insulin receptor antibody-sulfamidase fusion protein penetrates the primate blood-brain barrier and reduces glycosoaminoglycans in Sanfilippo type A cells.Age-associated changes in gene expression in human brain and isolated neuronsGlycosaminoglycan storage disorders: a reviewMatching the Diversity of Sulfated Biomolecules: Creation of a Classification Database for Sulfatases Reflecting Their Substrate Specificity.Recent advances. Medical genetics.Functional correction of neurological and somatic disorders at later stages of disease in MPS IIIA mice by systemic scAAV9-hSGSH gene deliveryMass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiologyUpdate of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.Heparan N-sulfatase: cysteine 70 plays a role in the enzyme catalysis and processing.Sweating the small stuff: Glycoproteins in human sweat and their unexplored potential for microbial adhesion.Adeno-associated viral gene therapy for mucopolysaccharidoses exhibiting neurodegeneration.Epidemiology of mucopolysaccharidoses.Pathogenesis and treatment of spine disease in the mucopolysaccharidoses.Low-scale expression and purification of an active putative iduronate 2-sulfate sulfatase-Like enzyme from Escherichia coli K12.ATP Sulfurylase is Essential for the Utilization of Sulfamate as a Sulfur Source in the Yeast Komagataella pastoris (syn. Pichia pastoris).Extrapyramidal symptoms and medication use in Mucopolysaccharidosis type III.MPS IIIA - Sanfilippo syndrome AA mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA mice.Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.Low-dose, continuous enzyme replacement therapy ameliorates brain pathology in the neurodegenerative lysosomal disorder mucopolysaccharidosis type IIIA.Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A).Slow, continuous enzyme replacement via spinal CSF in dogs with the paediatric-onset neurodegenerative disease, MPS IIIA.Evaluation of enzyme dose and dose-frequency in ameliorating substrate accumulation in MPS IIIA Huntaway dog brain.SGSH hydrolyses Heparan sulfate chain(2)SGSH hydrolyses Heparan sulfate chain(7)Assimilation of alternative sulfur sources in fungi.CTGF/VEGFA-activated fibroblasts promote tumor migration through micro-environmental modulation.
P2860
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P2860
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
description
1995 nî lūn-bûn
@nan
1995 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
@ast
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
@en
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
@nl
type
label
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
@ast
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
@en
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
@nl
prefLabel
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
@ast
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
@en
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
@nl
P2093
P2860
P3181
P356
P1433
P1476
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
@en
P2093
Hopwood JJ
Sutherland GR
P2860
P2888
P304
P3181
P356
10.1038/NG1295-465
P407
P577
1995-12-01T00:00:00Z
P5875
P6179
1027448019