(Q24564644)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1756715

17 November 2022

N. J. Galjart

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1756715

17 November 2022

R. Willemsen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1756715

17 November 2022

N. Gillemans

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1756715

17 November 2022

H. Galjaard

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1756715

17 November 2022

A. d'Azzo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1756715

full work available at URL

17 November 2022

language of work or name

English

0 references

publication date

December 1991

0 references

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1756715/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1756715

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1756715/pdf/?tool=EBI

17 November 2022

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%3A1756715

https://europepmc.org/articles/PMC453152

17 November 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1756715

https://europepmc.org/articles/PMC453152?pdf=render

17 November 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%3A1756715

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fj.1460-2075.1991.tb04980.x

17 November 2022

1 reference

10.1002/J.1460-2075.1991.TB04980.X

Crossref

DOI

https://api.crossref.org/works/10.1002/J.1460-2075.1991.TB04980.X

http://onlinelibrary.wiley.com/wol1/doi/10.1002/j.1460-2075.1991.tb04980.x/fullpdf

17 November 2022

1 reference

10.1002/J.1460-2075.1991.TB04980.X

Crossref

DOI

https://api.crossref.org/works/10.1002/J.1460-2075.1991.TB04980.X

17 November 2022

0 references

10

0 references

issue

13

0 references

page(s)

4041-8

0 references

cites work

Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

A general method of in vitro preparation and specific mutagenesis of DNA fragments: study of protein and DNA interactions

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

Measurement of protein using bicinchoninic acid

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

SV40-transformed simian cells support the replication of early SV40 mutants

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

Juvenile galactosialidosis in a white male: a new variant

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

Immunoelectron microscopical localization of lysosomal beta-galactosidase and its precursor forms in normal and mutant human fibroblasts

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

Human lysosomal protective protein has cathepsin A-like activity distinct from its protective function

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

A peptidase in human platelets that deamidates tachykinins. Probable identity with the lysosomal "protective protein"

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

Purification of mouse immunoglobulin heavy-chain messenger RNAs from total myeloma tumor RNA

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

A cDNA cloning vector that permits expression of cDNA inserts in mammalian cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

Carboxamidopeptidase: purification and characterization of a neurohypophyseal hormone inactivating peptidase from toad skin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

GM1 gangliosidosis in skin fibroblast culture: enzymatic differences between types 1 and 2 and observations on a third variant

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

Speeding-up the sequencing of double-stranded DNA.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

Protein oligomerization in the endoplasmic reticulum

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

Atypical expression of ß-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

bcr-abl oncogene activation in Philadelphia chromosome-positive acute lymphoblastic leukemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

The presence of a reduced amount of 32-kd "protective" protein is a distinct biochemical finding in late infantile galactosialidosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

Isolation and structural characterization of twenty-one sialyloligosaccharides from galactosialidosis urine. An intact N,N'-diacetylchitobiose unit at the reducing end of a diantennary structure

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

Mouse "protective protein". cDNA cloning, sequence comparison, and expression

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=453152

Fluorescence reaction for amino acids

30 May 2018

1 reference

12 December 2020

Combined sialidase (neuraminidase) and beta-galactosidase deficiency. Clinical, morphological and enzymological observations in a patient

1 reference

12 December 2020

The relation between human lysosomal beta-galactosidase and its protective protein

1 reference

12 December 2020

Limited proteolysis of the beta-hexosaminidase precursor in a cell-free system

1 reference

12 December 2020

Purification of acid beta-galactosidase and acid neuraminidase from bovine testis: evidence for an enzyme complex

1 reference

12 December 2020

Storage of sialic acid-containing carbohydrates in the placenta of a human galactosialidosis fetus. Isolation and structural characterization of 16 sialyloligosaccharides

1 reference

12 December 2020

A comparative study of the accumulated sialic acid-containing oligosaccharides from cultured human galactosialidosis and sialidosis fibroblasts

1 reference

12 December 2020

Clinical heterogeneity in infantile galactosialidosis

1 reference

12 December 2020

Identification and in vitro reconstitution of lysosomal neuraminidase from human placenta

1 reference

12 December 2020

Deficient lysosomal carboxypeptidase activity in galactosialidosis

1 reference

12 December 2020

Hypersialyloligosacchariduria in mucolipidoses: a method for diagnosis

1 reference

12 December 2020

Lysosomal peptidase measurement by sensitive fluorometric amino acid analysis

1 reference

12 December 2020

10.1002/J.1460-2075.1991.TB04980.X

Identifiers

DOI

1 reference

National Center for Biotechnology Information