Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)
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Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIICIntegral and associated lysosomal membrane proteinsThe proteome of lysosomesProtein misfolding as an underlying molecular defect in mucopolysaccharidosis III type CSanfilippo syndrome: causes, consequences, and treatmentsLysosomal membrane proteins and their central role in physiologyCharacterization of the biosynthesis, processing and kinetic mechanism of action of the enzyme deficient in mucopolysaccharidosis IIICNCU-G1 is a highly glycosylated integral membrane protein of the lysosomeEvaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage DiseasesSignals from the lysosome: a control centre for cellular clearance and energy metabolism.Glycosaminoglycan storage disorders: a reviewScreening and functional pathway analysis of genes associated with pediatric allergic asthma using a DNA microarrayNon-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).Crosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C.The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation.Proteomics of the lysosome.Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiologyProgressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC.Epidemiology of mucopolysaccharidoses.Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia.Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.Mucopolysacccharidoses: From understanding to treatment, a century of discoveries.The mannose 6-phosphate glycoprotein proteome.Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks.MPS IIIC - Sanfilippo syndrome CUpdate of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.Stat3 mediated alterations in lysosomal membrane protein composition.HGSNAT oligomer acetylates Heparan sulfate chain(3)HGSNAT oligomer acetylates Heparan chain(1)Sanfilippo syndrome: Overall review
P2860
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P2860
Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)
description
2006 nî lūn-bûn
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2006 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հոտեմբերին հրատարակված գիտական հոդված
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年學術文章
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name
Identification of the gene enc ...... IC (Sanfilippo disease type C)
@ast
Identification of the gene enc ...... IC (Sanfilippo disease type C)
@en
Identification of the gene enc ...... IC (Sanfilippo disease type C)
@nl
type
label
Identification of the gene enc ...... IC (Sanfilippo disease type C)
@ast
Identification of the gene enc ...... IC (Sanfilippo disease type C)
@en
Identification of the gene enc ...... IC (Sanfilippo disease type C)
@nl
prefLabel
Identification of the gene enc ...... IC (Sanfilippo disease type C)
@ast
Identification of the gene enc ...... IC (Sanfilippo disease type C)
@en
Identification of the gene enc ...... IC (Sanfilippo disease type C)
@nl
P2093
P2860
P3181
P356
P1476
Identification of the gene enc ...... IC (Sanfilippo disease type C)
@en
P2093
Don J Mahuran
Huiwen Zhang
John W Callahan
Michael B Tropak
Richard D Bagshaw
Sunqu Zhang
Xiaolian Fan
P2860
P304
P3181
P356
10.1086/508068
P407
P577
2006-10-01T00:00:00Z