(Q28585854)

English

Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease

scientific journal article

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scholarly article

2 references

PubMed publication ID

31 January 2017

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8747922%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease (English)

2 references

PubMed publication ID

31 January 2017

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8747922%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

Hexosaminidase A

1 reference

GOA release 2020-03-11

Tay-Sachs disease

1 reference

based on heuristic

inferred from title

Michel Cohen-Tannoudji

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8747922%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

author name string

P Marchand

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8747922%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

S Akli

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8747922%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

S A Sheardown

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8747922%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

J P Puech

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8747922%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

C Kress

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8747922%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

P Gressens

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8747922%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

M C Nassogne

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8747922%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

T Beccari

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8747922%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

A L Muggleton-Harris

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8747922%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

publication date

1 December 1995

2 references

PubMed publication ID

31 January 2017

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8747922%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

number of pages

6

1 reference

based on heuristic

inferred from page(s)

Mammalian Genome

2 references

PubMed publication ID

31 January 2017

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8747922%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

6

2 references

PubMed publication ID

31 January 2017

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8747922%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

12

2 references

PubMed publication ID

31 January 2017

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8747922%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

844-849

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8747922%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

Different expression of beta-N-acetylhexosaminidase in mouse tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of β-N-acetylhexosaminidase from rabbit semen and its role in fertilization

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical basis of type AB GM2 gangliosidosis in a Japanese spaniel

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzyme replacement in Tay-Sachs disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tay-Sachs disease in Quebec: evidence for a geographic aggregate in the French-Canadian population and identification of a new retardation syndrome with possible linkage to the Tay-Sachs gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of a new model of GM2-gangliosidosis (Sandhoff's disease) in Korat cats

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Construction and characterization of a recombinant plasmid encoding the gene for the thymidine kinase of herpes simplex type 1 virus

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Tay-Sachs disease gene in North American Jewish populations: geographic variations and origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning and sequence analysis of a cDNA encoding the alpha-subunit of mouse beta-N-acetylhexosaminidase and comparison with the human enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and Biochemical Abnormalities in Porcine GM2-Gangliosidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of beta-N-acetylhexosaminidase A in mouse tissues with the fluorigenic substrate 4-methylumbelliferyl-beta-N-acetylglucosamine 6-sulphate

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrastructural studies of eight cases of fetal Tay-Sachs disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activating Proteins for Ganglioside GM2Degradation by β-Hexosaminidase Isoenzymes in Tissue Extracts from Different Species

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning and sequence analysis of a cDNA encoding the beta-subunit of mouse beta-hexosaminidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein measurement with the Folin phenol reagent

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of the human gene for hexosaminidase B to chromosome 5

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: a general strategy for targeting mutations to non-selectable genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GM 2 Ganglioside Lysosomal Storage Disease in Cats with α-Hexosaminidase Deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural organization, sequence, and expression of the mouse HEXA gene encoding the alpha subunit of hexosaminidase A.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sperm require beta-N-acetylglucosaminidase to penetrate through the egg zona pellucida

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the patterns of expression of mRNAs for the ?- and ?-subunits of the lysosomal enzyme ?-N-acetylhexosaminidase in mouse epididymis and testis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments

1 reference

https://pubmed.ncbi.nlm.nih.gov/8747922

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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