A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant.
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SUMF1 enhances sulfatase activities in vivo in five sulfatase deficienciesMolecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implicationsA block of autophagy in lysosomal storage disordersWhole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapyNeurodevelopmental Changes in Excitatory Synaptic Structure and Function in the Cerebral Cortex of Sanfilippo Syndrome IIIA MiceIdentification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.Lysosomal storage disease: gene therapy on both sides of the blood-brain barrier.Glycosaminoglycan storage disorders: a reviewLiver production of sulfamidase reverses peripheral and ameliorates CNS pathology in mucopolysaccharidosis IIIA mice.A genetic model of substrate reduction therapy for mucopolysaccharidosis.Neonatal Bone Marrow Transplantation in MPS IIIA Mice.Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VIIAnimal models for mucopolysaccharidosis disorders and their clinical relevance.A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA.Monitoring autophagy in lysosomal storage disordersProgressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC.Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases.What Have We Learned from Glycosyltransferase Knockouts in Mice?Pathogenesis and treatment of spine disease in the mucopolysaccharidoses.Glycosaminoglycan levels and structure in a mucopolysaccharidosis IIIA mice and the effect of a highly secreted sulfamidase engineered to cross the blood-brain barrier.Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice.High and prolonged sulfamidase secretion by the liver of MPS-IIIA mice following hydrodynamic tail vein delivery of antibiotic-free pFAR4 plasmid vector.Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA mice.Inhibition of glycosaminoglycan synthesis using rhodamine B in a mouse model of mucopolysaccharidosis type IIIA.Overcoming Limitations Inherent in Sulfamidase to Improve Mucopolysaccharidosis IIIA Gene Therapy.
P2860
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P2860
A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant.
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
A novel missense mutation in l ...... in a spontaneous mouse mutant.
@ast
A novel missense mutation in l ...... in a spontaneous mouse mutant.
@en
A novel missense mutation in l ...... in a spontaneous mouse mutant.
@nl
type
label
A novel missense mutation in l ...... in a spontaneous mouse mutant.
@ast
A novel missense mutation in l ...... in a spontaneous mouse mutant.
@en
A novel missense mutation in l ...... in a spontaneous mouse mutant.
@nl
prefLabel
A novel missense mutation in l ...... in a spontaneous mouse mutant.
@ast
A novel missense mutation in l ...... in a spontaneous mouse mutant.
@en
A novel missense mutation in l ...... in a spontaneous mouse mutant.
@nl
P2093
P356
P1433
P1476
A novel missense mutation in l ...... in a spontaneous mouse mutant.
@en
P2093
Bhattacharyya R
Hopwood JJ
P304
P356
10.1093/GLYCOB/11.1.99
P577
2001-01-01T00:00:00Z