(Q38334617)

English

A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

2 September 2017

A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease (English)

1 reference

Europe PubMed Central

2 September 2017

author name string

Y Hou

1

1 reference

Europe PubMed Central

2 September 2017

B McInnes

2

1 reference

Europe PubMed Central

2 September 2017

A Hinek

3

1 reference

Europe PubMed Central

2 September 2017

G Karpati

4

1 reference

Europe PubMed Central

2 September 2017

D Mahuran

5

1 reference

Europe PubMed Central

2 September 2017

language of work or name

0 references

publication date

1 August 1998

1 reference

Europe PubMed Central

2 September 2017

Journal of Biological Chemistry

1 reference

Europe PubMed Central

2 September 2017

273

1 reference

Europe PubMed Central

2 September 2017

33

1 reference

Europe PubMed Central

2 September 2017

21386-21392

1 reference

Europe PubMed Central

2 September 2017

XmnI RFLP at 5q13 detected by a 0.49 kb Xmn I fragment of human hexosaminidase (HEXB) cDNA.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

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://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Direct determination of the substrate specificity of the alpha-active site in heterodimeric beta-hexosaminidase A

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

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

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Identification of an active acidic residue in the catalytic site of beta-hexosaminidase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Structure and distribution of an Alu-type deletion mutation in Sandhoff disease

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Correction of human mucopolysaccharidosis type-VI fibroblasts with recombinant N-acetylgalactosamine-4-sulphatase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Characterization of the affinity of the G(M2) activator protein for glycolipids by a fluorescence dequenching assay

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Over-expression of a functionally active human GM2-activator protein in Escherichia coli

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Diagnosis of infantile and juvenile forms of GM2 gangliosidosis variant 0. Residual activities toward natural and different synthetic substrates

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

The final stage of gene expression: chaperones and the regulation of protein fate

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Identification of functional domains within the alpha and beta subunits of beta-hexosaminidase A through the expression of alpha-beta fusion proteins

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Identification of domains in human beta-hexosaminidase that determine substrate specificity

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Assignment of β-hexosaminidase A α-subunit to human chromosomal region 15q23→q24

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Specific recognition of N-acetylneuraminic acid in the GM2 epitope by human GM2 activator protein

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Activator proteins and topology of lysosomal sphingolipid catabolism.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Mutation in GM2-gangliosidosis B1 variant

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Functional interplay between interleukin-1 receptor and elastin binding protein regulates fibronectin production in coronary artery smooth muscle cells

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Substitution of Alanine543 with a Threonine Residue at the Carboxy Terminal End of the β-Chain Is Associated with Thermolabile Hexosaminidase B in a Jewish Family of Oriental Ancestry

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.33.21386

21 January 2018

Identifiers

10.1074/JBC.273.33.21386

1 reference

Europe PubMed Central

2 September 2017

1 reference

Europe PubMed Central

2 September 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q38334617&oldid=1753796895"