(Q35195467)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570834%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

title

A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570834%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

author name string

B. Xie

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1570834

10 October 2022

W. Wang

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1570834

10 October 2022

D. J. Mahuran

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1570834

10 October 2022

language of work or name

English

0 references

publication date

1 May 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570834%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

21 September 2019

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1570834/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1570834

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1570834/?tool=EBI

10 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1570834

https://europepmc.org/articles/PMC1682593

10 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1570834

https://europepmc.org/articles/PMC1682593?pdf=render

10 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1570834

American Journal of Human Genetics

10 October 2022

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570834%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

volume

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570834%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570834%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

page(s)

1046-1052

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570834%20AND%20SRC:MED&resulttype=core&format=json

Enzyme-linked immunosorbent assay for the ganglioside GM2-activator protein. Screening of normal human tissues and body fluids, of tissues of GM2 gangliosidosis, and for its subcellular localization

21 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=1682593

Isolation and characterization of a major tandem repeat family from the human X chromosome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682593

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682593

Molecular forms of GM2-activator protein. A study on its biosynthesis in human skin fibroblasts

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682593

Transport of secretory and membrane glycoproteins from the rough endoplasmic reticulum to the Golgi. A rate-limiting step in protein maturation and secretion.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682593

Control of protein exit from the endoplasmic reticulum

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682593

Mutational effects on protein stability

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682593

Introduction of the alpha subunit mutation associated with the B1 variant of Tay-Sachs disease into the beta subunit produces a beta-hexosaminidase B without catalytic activity

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682593

Isolation and expression of a full-length cDNA encoding the human GM2 activator protein

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682593

A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682593

Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682593

Lysosomal storage diseases

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682593

The biochemistry of HEXA and HEXB gene mutations causing 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=1682593

The human GM2 activator protein. A substrate specific cofactor of beta-hexosaminidase A

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682593

13 July 2018

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570834%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

1 reference