Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC (Q24292775)

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English	Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC	scientific article

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scholarly article

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Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC (English)

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Heparan-alpha-glucosaminide N-acetyltransferase

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GOA release 2020-03-11

protein complex oligomerization

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GOA release 2020-03-11

Pierre Thibault

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object named as

Pierre Thibault

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Alexey V Pshezhetsky

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object named as

Alexey V Pshezhetsky

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author name string

Stéphanie Durand

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Matthew Feldhammer

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Eric Bonneil

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language of work or name

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publication date

8 October 2010

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Journal of Biological Chemistry

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285

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41

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31233-42

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Inwardly rectifying potassium channels: their structure, function, and physiological roles

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19 March 2017

Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C

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19 March 2017

LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase

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19 March 2017

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

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19 March 2017

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

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Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3

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Clathrin coat construction in endocytosis

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Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis

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

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Ion-channel assembly

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ABC transporters: a riddle wrapped in a mystery inside an enigma

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Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

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27 September 2017

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951197

27 September 2017

Detergent binding explains anomalous SDS-PAGE migration of membrane proteins

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27 September 2017

Molecular and cellular basis of lysosomal transmembrane protein dysfunction

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27 September 2017

The integral membrane of lysosomes: its proteins and their roles in disease

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27 September 2017

Decision tree-driven tandem mass spectrometry for shotgun proteomics

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27 September 2017

TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage

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27 September 2017

Lysosome-related organelles

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Biosynthesis of lysosomal endopeptidases

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27 September 2017

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

1 reference

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27 September 2017

The motif Tyr-X-X-hydrophobic residue mediates lysosomal membrane targeting of lysosome-associated membrane protein 1.

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30 May 2018

Genetic evidence for transmembrane acetylation by lysosomes

1 reference

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30 May 2018

Enzyme-replacement therapy in mucopolysaccharidosis I.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.141150

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.141150

21 January 2018

Improvements in two-dimensional gel electrophoresis by utilizing a low cost "in-house" neutral pH sodium dodecyl sulfate-polyacrylamide gel electrophoresis system

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.141150

21 January 2018

Novel method for evaluation of the oligomeric structure of membrane proteins

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.141150

21 January 2018

Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.141150

21 January 2018

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

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21 January 2018

Utilization of exogenously added acetyl coenzyme A by intact isolated lysosomes

1 reference

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12 December 2020

based on heuristic

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Acetyl CoA:alpha-glucosaminide N-acetyl transferase: partial purification from human liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/20650889

12 December 2020

based on heuristic

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Acetyl coenzyme A: alpha-glucosaminide N-acetyltransferase. Evidence for a transmembrane acetylation mechanism

1 reference

https://pubmed.ncbi.nlm.nih.gov/20650889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase. Evidence for an active site histidine residue

1 reference

https://pubmed.ncbi.nlm.nih.gov/20650889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Stoichiometry of the human lysosomal carboxypeptidase-beta-galactosidase complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/20650889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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Identifiers

10.1074/JBC.M110.141150

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