Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice.
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Sanfilippo syndrome: causes, consequences, and treatmentsAtaxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).Neurodevelopmental Changes in Excitatory Synaptic Structure and Function in the Cerebral Cortex of Sanfilippo Syndrome IIIA MiceHeparan sulfate 3-O-sulfation: a rare modification in search of a function.Hs3st3-modified heparan sulfate controls KIT+ progenitor expansion by regulating 3-O-sulfotransferasesA rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.Glycan-based biomarkers for mucopolysaccharidoses.Lysosomal diseases: diagnostic update.The function of heparan sulfate during branching morphogenesis.Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB.Arylsulfatase K, a novel lysosomal sulfatase.Molecular characterization of arylsulfatase G: expression, processing, glycosylation, transport, and activity.Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?Arylsulfatase K is the Lysosomal 2-Sulfoglucuronate Sulfatase.A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions.The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?
P2860
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P2860
Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Arylsulfatase G inactivation c ...... mucopolysaccharidosis in mice.
@ast
Arylsulfatase G inactivation c ...... mucopolysaccharidosis in mice.
@en
type
label
Arylsulfatase G inactivation c ...... mucopolysaccharidosis in mice.
@ast
Arylsulfatase G inactivation c ...... mucopolysaccharidosis in mice.
@en
prefLabel
Arylsulfatase G inactivation c ...... mucopolysaccharidosis in mice.
@ast
Arylsulfatase G inactivation c ...... mucopolysaccharidosis in mice.
@en
P2093
P2860
P356
P1476
Arylsulfatase G inactivation c ...... mucopolysaccharidosis in mice.
@en
P2093
Björn Kowalewski
Jeffrey D Esko
Marc-André Frese
Markus Damme
Michael Padva
Renate Lüllmann-Rauch
Roger Lawrence
Rudi D'Hooge
Stijn Stroobants
P2860
P304
10310-10315
P356
10.1073/PNAS.1202071109
P407
P577
2012-06-11T00:00:00Z