(Q24329093)

GOA release 2020-03-11

acyltransferase activity

1 reference

GOA release 2020-03-11

1 reference

3

Alexey V Pshezhetsky

Alexey V

Pshezhetsky

1 reference

19 October 2023

Matthew Feldhammer

1

Matthew

Feldhammer

1 reference

19823584

19 October 2023

Stéphanie Durand

series ordinal

2

author given names

Stéphanie

author last names

Durand

1 reference

19823584

Creative Commons Attribution 4.0 International

19 October 2023

language of work or name

English

0 references

publication date

2009

0 references

published in

PLOS One

0 references

volume

4

0 references

issue

10

0 references

page(s)

e7434

0 references

copyright license

start time

13 October 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

A generic protein purification method for protein complex characterization and proteome exploration

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

The tandem affinity purification (TAP) method: a general procedure of protein complex purification

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online

19 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

19 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

Sanfilippo syndrome: a mini-review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

TMRPres2D: high quality visual representation of transmembrane protein models

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

Enzyme replacement and enhancement therapies for lysosomal diseases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

Prevalence of lysosomal storage diseases in Portugal

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

The frequency of lysosomal storage diseases in The Netherlands.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

Prevalence of lysosomal storage disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

Characterization of glycoproteins and their associated oligosaccharides through the use of endoglycosidases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

Sanfilippo type C disease: Clinical findings in four patients with a new variant of mucopolysaccharidosis III

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

Genetic evidence for transmembrane acetylation by lysosomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757673

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0007434

An acetylated 120-kDa lysosomal transmembrane protein is absent from mucopolysaccharidosis IIIC fibroblasts: a candidate molecule for MPS IIIC.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0007434

Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/19823584

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Sanfilippo syndrome type C: assay for acetyl-CoA: alpha-glucosaminide N-acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals

1 reference

https://pubmed.ncbi.nlm.nih.gov/19823584

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19823584

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0007434

1 reference

release_423f3xyturfsnbkpmwq3dwkn5e

0 references

0 references

4130844

1 reference

1 reference

4130844

19823584

1 reference