Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. (Q30829263)

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24 December 2019

title

Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis (English)

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24 December 2019

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0 references

1 reference

1

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24 December 2019

Tracy Stockley

4

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24 December 2019

author name string

Michael Tropak

2

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24 December 2019

Justin Buttner

3

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24 December 2019

Fernando Kok

5

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24 December 2019

Joe T R Clarke

6

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24 December 2019

Don J Mahuran

7

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24 December 2019

language of work or name

English

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publication date

21 January 2007

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24 December 2019

number of pages

12

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Journal of Biological Chemistry

inferred from page(s)

published in

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24 December 2019

volume

282

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24 December 2019

issue

12

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24 December 2019

page(s)

9150-9161

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17237499%20AND%20SRC:MED&resulttype=core&format=json

The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

24 December 2019

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A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease

21 June 2018

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21 June 2018

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Direct determination of the substrate specificity of the alpha-active site in heterodimeric beta-hexosaminidase A

21 June 2018

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Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme

21 June 2018

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21 June 2018

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beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease

21 June 2018

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Proteolytic processing of the pro beta chain of beta-hexosaminidase occurs at basic residues contained within an exposed disulfide loop structure

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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12 December 2020

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Identifiers

DOI

10.1074/JBC.M609304200

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17237499%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

1 reference

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24 December 2019

PubMed publication ID

17237499

1 reference