Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect. (Q35197971)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2278539%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

title

Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2278539%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

1 reference

R Navon

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2278539%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

E H Kolodny

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2278539%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

H Mitsumoto

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2278539%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

G H Thomas

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2278539%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

R L Proia

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2278539%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

language of work or name

English

0 references

publication date

1 April 1990

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2278539%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

26 September 2019

published in

1 reference

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26 September 2019

volume

46

1 reference

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26 September 2019

issue

4

1 reference

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26 September 2019

page(s)

817-821

1 reference

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Estimation of the frequency of hexosaminidase a variant alleles in the American Jewish population

26 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683663

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683663

Identification of an altered splice site in Ashkenazi 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=1683663

Organization of the gene encoding the human beta-hexosaminidase alpha-chain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683663

Frequency of hexosaminidase A variant alleles among Ashkenazi Jews and prenatal diagnosis of GM2 gangliosidosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683663

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683663

A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with 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=1683663

Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683663

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683663

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683663

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.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683663

Partial enzyme deficiencies: residual activities and the development of neurological disorders

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2278539

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hexosaminidase A deficiency in adults

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2278539

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2278539

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2278539%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

1 reference