Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase (Q28275193)

4

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author name string

Stephan Tiede

1

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Stephan Storch

2

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Torben Lübke

3

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Ruth Bargal

5

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Annick Raas-Rothschild

6

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Thomas Braulke

Lysosome biogenesis requires Rab9 function and receptor recycling from endosomes to the trans-Golgi network

7

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language of work or name

English

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publication date

October 2005

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published in

Nature Medicine

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volume

11

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issue

10

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page(s)

1109-12

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cites work

1 reference

https://api.crossref.org/works/10.1038/NM1305

A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site

21 April 2017

1 reference

Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.

21 January 2018

1 reference

Cloning and functional expression of the human GlcNAc-1-P transferase, the enzyme for the committed step of the dolichol cycle, by heterologous complementation in Saccharomyces cerevisiae

21 January 2018

1 reference

Genetic basis for biosynthesis of the (alpha 1-->4)-linked N-acetyl-D-glucosamine 1-phosphate capsule of Neisseria meningitidis serogroup X.

21 January 2018

1 reference

A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the batten disease-related CLN3 protein are required for efficient lysosomal targeting

21 January 2018

1 reference

Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophages

21 January 2018

1 reference

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

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

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)

1 reference