GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients (Q35201361)

7 August 2017

title

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients (English)

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7 August 2017

A Tanaka

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7 August 2017

K Ohno

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7 August 2017

K Sandhoff

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7 August 2017

I Maire

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7 August 2017

E H Kolodny

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7 August 2017

A Brown

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7 August 2017

K Suzuki

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7 August 2017

language of work or name

English

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publication date

1 February 1990

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American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

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7 August 2017

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7 August 2017

page(s)

329-339

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Protein measurement with the Folin phenol reagent

7 August 2017

cites work

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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

13 July 2018

1 reference

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Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684994

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

13 July 2018

1 reference

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Juvenile GM2-gangliosidosis: Clinical variant of Tay-Sachs disease or a new disease

13 July 2018

1 reference

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An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

13 July 2018

1 reference

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Use of eukaryotic expression technology in the functional analysis of cloned genes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684994

Identification of an altered splice site in Ashkenazi Tay-Sachs disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684994

Genomic amplification with transcript sequencing

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684994

Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684994

A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684994

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684994

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684994

The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684994

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684994

RNA amplification with transcript sequencing (RAWTS).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684994

DNA sequencing with chain-terminating inhibitors

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684994

Partial deficiency of hexosaminidase component A in juvenile GM2-gangliosidosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684994

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684994

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

26 September 2018

1 reference

12 December 2020

Enzymatic diagnosis of sphingolipidoses

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12 December 2020

Polymerase chain reaction

1 reference

12 December 2020

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1 reference

12 December 2020

GM2-gangliosidosis B1 variant: a wide geographic and ethnic distribution of the specific beta-hexosaminidase alpha chain mutation originally identified in a Puerto Rican patient

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

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

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

1684994

1 reference

7 August 2017

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