(Q35610052)

9 August 2017

Protective protein gene mutations in galactosialidosis (English)

1 reference

9 August 2017

1 reference

Shimmoto M

1

1 reference

9 August 2017

Fukuhara Y

2

1 reference

9 August 2017

Itoh K

3

1 reference

9 August 2017

Oshima A

4

1 reference

9 August 2017

Sakuraba H

5

1 reference

9 August 2017

Suzuki Y

6

1 reference

9 August 2017

language of work or name

English

0 references

publication date

1 June 1993

1 reference

Journal of Clinical Investigation

9 August 2017

1 reference

9 August 2017

91

1 reference

9 August 2017

6

1 reference

9 August 2017

2393-2398

1 reference

Galactosialidosis (beta-galactosidase-neuraminidase deficiency): a possible role of serine-thiol proteases in the degradation of beta-galactosidase molecules

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443297

Efficient Transformation of Human Fibroblasts by Adenovirus-Simian Virus 40 Recombinants

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443297

Human placental neuraminidase. Activation, stabilization and association with beta-galactosidase and its protective protein

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443297

Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443297

GM1-gangliosidosis: abnormalities in biosynthesis and early processing of beta-galactosidase in fibroblasts

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443297

Galactosialidosis: a direct evidence that a 46-kilodalton protein restores deficient enzyme activities in fibroblasts

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443297

Expression vector system based on the chicken beta-actin promoter directs efficient production of interleukin-5.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443297

Galactosialidosis: simultaneous deficiency of esterase, carboxy-terminal deamidase and acid carboxypeptidase activities

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443297

Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443297

A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443297

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443297

Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and β-galactosidase deficiencies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443297

Deficient lysosomal carboxypeptidase activity in galactosialidosis

12 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8514852

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Acid carboxypeptidase deficiency in galactosialidosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8514852

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI116472

1 reference

9 August 2017

1 reference

9 August 2017

1 reference