A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism (Q24308865)

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

lysosome organization

1 reference

GOA release 2020-03-11

author name string

Katrin Marschner

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Katrin Kollmann

2

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Michaela Schweizer

3

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Thomas Braulke

4

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Sandra Pohl

Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase

5

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language of work or name

English

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publication date

1 July 2011

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published in

Science

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volume

333

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page(s)

87-90

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issue

6038

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cites work

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.1205677

Mammalian subtilisin/kexin isozyme SKI-1: A widely expressed proprotein convertase with a unique cleavage specificity and cellular localization

20 April 2017

1 reference

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Cleavage of sterol regulatory element-binding proteins (SREBPs) at site-1 requires interaction with SREBP cleavage-activating protein. Evidence from in vivo competition studies

20 April 2017

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.1205677

A proteolytic pathway that controls the cholesterol content of membranes, cells, and blood

20 April 2017

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.1205677

CREB4, a transmembrane bZip transcription factor and potential new substrate for regulation and cleavage by S1P.

20 April 2017

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.1205677

Molecular identification of the sterol-regulated luminal protease that cleaves SREBPs and controls lipid composition of animal cells

20 April 2017

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.1205677

Sorting of lysosomal proteins

20 April 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1205677

The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1205677

Structural requirements for efficient processing and activation of recombinant human UDP-N-acetylglucosamine:lysosomal-enzyme-N-acetylglucosamine-1-phosphotransferase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1205677

Mannose phosphorylation in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1205677

Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1205677

Biosynthesis and cellular trafficking of the convertase SKI-1/S1P: ectodomain shedding requires SKI-1 activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1205677

Site 1 protease is required for proteolytic processing of the glycoproteins of the South American hemorrhagic fever viruses Junin, Machupo, and Guanarito

21 January 2018

1 reference

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Isolation of cholesterol-requiring mutant Chinese hamster ovary cells with defects in cleavage of sterol regulatory element-binding proteins at site 1.

21 January 2018

1 reference

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A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1205677

Site-1 protease is required for cartilage development in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1205677

Site-1 protease is essential for endochondral bone formation in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1205677

Secondary lipid accumulation in lysosomal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1205677

Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1205677

The proprotein convertases are potential targets in the treatment of dyslipidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1205677

Pharmacologic inhibition of site 1 protease activity inhibits sterol regulatory element-binding protein processing and reduces lipogenic enzyme gene expression and lipid synthesis in cultured cells and experimental animals

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1205677

Targeting the proteolytic processing of the viral glycoprotein precursor is a promising novel antiviral strategy against arenaviruses

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1205677

Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study

21 January 2018

1 reference

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Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1205677

Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1205677

inferred from DOI database lookup

7 January 2021

based on heuristic

Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1205677

inferred from DOI database lookup

7 January 2021

based on heuristic

Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. I. Purification and subunit structure

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1205677