Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients (Q35199518)

7 August 2017

title

Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients (English)

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7 August 2017

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Bayleran J

1

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7 August 2017

Hechtman P

series ordinal

2

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7 August 2017

Kolodny E

series ordinal

3

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7 August 2017

Kaback M

series ordinal

4

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7 August 2017

language of work or name

English

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publication date

1 October 1987

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American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

41

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7 August 2017

issue

4

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7 August 2017

page(s)

532-548

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Protein measurement with the Folin phenol reagent

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684329

Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684329

Interaction of activating protein and surfactants with human liver hexosaminidase A and GM2 ganglioside

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684329

Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684329

Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684329

Tay-Sachs disease: one-step assay of beta-N-acetylhexosaminidase in serum with a sulphated chromogenic substrate

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684329

Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684329

Prenatal diagnosis of GM2 gangliosidosis with high residual hexosaminidase A activity (variant B1; pseudo AB variant).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684329

Chemical characterization and subunit structure of human N-acetylhexosaminidases A and B

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684329

Human hexosaminidase isozymes: chromatographic separation as an aid to heterozygote identification

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684329

Studies on glucosaminidase. 4. The fluorimetric assay of N-acetyl-beta-glucosaminidase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684329

Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684329

Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684329

Evidence for two different active sites on human beta-hexosaminidase A. Interaction of GM2 activator protein with beta-hexosaminidase A.

26 September 2018

1 reference

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Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population

26 September 2018

1 reference

12 December 2020

The AB-variant of GM2-gangliosidosis. Clinical, biochemical, and pathological studies of two patients

1 reference

12 December 2020

A new variant of Type-AB GM2-gangliosidosis

1 reference

12 December 2020

A new from of residual hexosaminidase activity in infantile Tay Sachs disease fibroblasts

1 reference

12 December 2020

Late onset GM2 gangliosidosis: an alpha-locus genetic compound with near normal hexosaminidase activity

1 reference

12 December 2020

Genetic complementation in somatic cell hybrids of four variants of infantile GM2 gangliosidosis

1 reference

12 December 2020

Mapping of the gene coding for the human GM2 activator protein to chromosome 5

1 reference

12 December 2020

Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease

1 reference

12 December 2020

Identifiers

PMC publication ID

1684329

1 reference

7 August 2017

1 reference