Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans
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Less Is More: Substrate Reduction Therapy for Lysosomal Storage DisordersThe Regulation of Steroid Action by Sulfation and DesulfationProteoglycans and neuronal migration in the cerebral cortex during development and diseaseHuman genetic disorders and knockout mice deficient in glycosaminoglycanChondroitin sulphate N-acetylgalactosaminyl-transferase-1 inhibits recovery from neural injurySkeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.A novel eliminase from a marine bacterium that degrades hyaluronan and chondroitin sulfate.Identification of chondroitin sulfate linkage region glycopeptides reveals prohormones as a novel class of proteoglycansValidation of Urinary Glycosaminoglycans in Iranian patients with Mucopolysaccharidase type I: The effect of urine sedimentation characteristics.Molecular and bioenergetic differences between cells with African versus European inherited mitochondrial DNA haplogroups: implications for population susceptibility to diseases.Chondroitin / dermatan sulfate modification enzymes in zebrafish development.Heparan sulfate proteoglycans undergo differential expression alterations in right sided colorectal cancer, depending on their metastatic character.Notch Signaling and the Skeleton.Polyamines release the let-7b-mediated suppression of initiation codon recognition during the protein synthesis of EXT2.Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.Implementation of infrared and Raman modalities for glycosaminoglycan characterization in complex systems.Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.Site-specific identification of heparan and chondroitin sulfate glycosaminoglycans in hybrid proteoglycans.Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin DysplasiasExpression analysis of a family of developmentally-regulated cytosolic sulfotransferases (SULTs) in Drosophila.Diseases associated with glycosaminoglycan metabolismDefective CHSY1 causes TPBSExpanding the chondroitin glycoproteome of Caenorhabditis elegans.Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.Effects of sesamin on the biosynthesis of chondroitin sulfate proteoglycans in human articular chondrocytes in primary culture.The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.OASIS regulates chondroitin 6-O-sulfotransferase 1 gene transcription in the injured adult mouse cerebral cortex.Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.Targeting Heparan Sulfate Proteoglycans as a Novel Therapeutic Strategy for Mucopolysaccharidoses.Heparan sulfate proteoglycans undergo differential expression alterations in left sided colorectal cancer, depending on their metastatic character.
P2860
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P2860
Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans
description
article científic
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article scientifique
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articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
Human genetic disorders caused ...... or sulfated glycosaminoglycans
@en
type
label
Human genetic disorders caused ...... or sulfated glycosaminoglycans
@en
prefLabel
Human genetic disorders caused ...... or sulfated glycosaminoglycans
@en
P2093
P2860
P356
P1476
Human genetic disorders caused ...... or sulfated glycosaminoglycans
@en
P2093
Kazuyuki Sugahara
Shiro Ikegawa
Shuji Mizumoto
P2860
P304
10953-10961
P356
10.1074/JBC.R112.437038
P407
P577
2013-03-01T00:00:00Z