(Q61775159)

English

BenignHEXAMutations, C739T(R247W) and C745T(R249W), Cause β-Hexosaminidase A Pseudodeficiency by Reducing the α-Subunit Protein Levels

scientific article published in Journal of Biological Chemistry

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9169471%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Benign HEXA mutations, C739T(R247W) and C745T(R249W), cause beta-hexosaminidase A pseudodeficiency by reducing the alpha-subunit protein levels (English)

1 reference

Europe PubMed Central

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3 November 2019

Barbara Triggs-Raine

4

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3 November 2019

author name string

Z Cao

1

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3 November 2019

E Petroulakis

2

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3 November 2019

T Salo

3

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3 November 2019

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1 June 1997

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3 November 2019

Journal of Biological Chemistry

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3 November 2019

272

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3 November 2019

23

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3 November 2019

14975-14982

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3 November 2019

Activator proteins and topology of lysosomal sphingolipid catabolism.

1 reference

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21 January 2018

Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network

1 reference

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21 January 2018

Segregation within a family of two mutant alleles for hexosaminidase A

1 reference

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21 January 2018

Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals

1 reference

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21 January 2018

Hexosaminidase A deficiency in adults

1 reference

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21 January 2018

Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase

1 reference

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21 January 2018

Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain

1 reference

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21 January 2018

A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies

1 reference

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21 January 2018

Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch

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21 January 2018

Site-directed mutagenesis of virtually any plasmid by eliminating a unique site

1 reference

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21 January 2018

Rapid and efficient site-specific mutagenesis without phenotypic selection

1 reference

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21 January 2018

The use of native T7 DNA polymerase for site-directed mutagenesis

1 reference

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21 January 2018

The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease

1 reference

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21 January 2018

Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase

1 reference

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21 January 2018

A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family

1 reference

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21 January 2018

A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation

1 reference

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21 January 2018

High efficiency gene transfection by electroporation using a radio-frequency electric field

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21 January 2018

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

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21 January 2018

Treatment of HL-60 cells with dimethyl sulphoxide inhibits the formation of beta-N-acetylhexosaminidase S

1 reference

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21 January 2018

A discontinuous and highly porous sodium dodecyl sulfate-polyacrylamide slab gel system of high resolution

1 reference

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21 January 2018

Modification of a discontinuous and highly porous sodium dodecyl sulfate-polyacrylamide gel system for minigel electrophoresis

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21 January 2018

59 Inhibitors of lysosomal function

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Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases

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21 January 2018

Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease

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21 January 2018

Identifiers

10.1074/JBC.272.23.14975

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9169471%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

Europe PubMed Central

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3 November 2019

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