Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase (Q24647066)

2

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N Rozengurt

3

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H Z Zhao

4

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K M Lyons

5

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S Anagnostaras

6

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M S Fanselow

7

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K Suzuki

8

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M T Vanier

9

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E F Neufeld

Proceedings of the National Academy of Sciences of the United States of America

10

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language of work or name

English

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publication date

7 December 1999

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published in

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volume

96

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page(s)

14505-10

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issue

25

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cites work

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Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis

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Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)

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Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

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Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

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Molecular dissection of a cosmid from a gene-rich region in 17q21 and characterization of a candidate gene for alpha-N-acetylglucosaminidase with two cDNA isoforms

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Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A).

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4-Methylumbelliferyl 2-acetamido-2-deoxy-α-d-glucopyranoside, a fluorogenic substrate for N-acetyl-α-D-glucos-aminidase

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Abnormalities of glycosphingolipids in mucopolysaccharidosis type III B.

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A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).

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Drastically abnormal gluco- and galactosylceramide composition does not affect ganglioside metabolism in the brain of mice deficient in galactosylceramide synthase.

28 November 2018

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Temporally graded retrograde amnesia of contextual fear after hippocampal damage in rats: within-subjects examination

28 November 2018

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Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids.

28 November 2018

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Simultaneous preparation and quantitation of proteoglycans by precipitation with alcian blue.

28 November 2018

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Gene targeting in embryonic stem cells

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12 December 2020

Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase

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12 December 2020

Naloxone and shock-elicited freezing in the rat

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12 December 2020

A new electrophoretic method for the complete separation of all known animal glycosaminoglycans in a monodimensional run

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12 December 2020

High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses

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12 December 2020

Follow-up on seven adult patients with mild Sanfilippo B-disease

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12 December 2020

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes

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12 December 2020

Identifiers

DOI

10.1073/PNAS.96.25.14505

1 reference

4130860

ADS bibcode

1999PNAS...9614505L

0 references

4130860

1 reference

1 reference

1 reference