Molecular analysis of the GlcNac-1-phosphotransferase (Q37143219)

18 August 2017

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title

Molecular analysis of the GlcNac-1-phosphotransferase (English)

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18 August 2017

T Braulke

1

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PubMed ID

18425436

18 August 2017

S Pohl

series ordinal

2

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PubMed ID

18425436

18 August 2017

S Storch

series ordinal

3

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18 August 2017

15 April 2008

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Journal of Inherited Metabolic Disease

18 August 2017

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18 August 2017

31

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18 August 2017

2

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18 August 2017

253-257

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https://scigraph.springernature.com/pub.10.1007/s10545-008-0862-5

18 August 2017

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cites work

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

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-008-0862-5

A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-008-0862-5

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.

1 reference

12 December 2020

Mucolipidosis III is genetically heterogeneous

1 reference

12 December 2020

Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions

1 reference

12 December 2020

Molecular order in mucolipidosis II and III nomenclature

1 reference

12 December 2020

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

1 reference

12 December 2020

Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene

1 reference

12 December 2020

Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease

1 reference

12 December 2020

Molecular cloning and functional expression of two splice forms of human N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase

1 reference

12 December 2020

Mucolipidosis II presenting as severe neonatal hyperparathyroidism

1 reference

12 December 2020

An atypical form of mucolipidosis III

1 reference

12 December 2020

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

1 reference

12 December 2020

An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II

1 reference

12 December 2020

Murine UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase lacking the gamma-subunit retains substantial activity toward acid hydrolases

1 reference

12 December 2020

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

1 reference

12 December 2020

Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population

1 reference

12 December 2020

10.1007/S10545-008-0862-5

Identifiers

DOI

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18 August 2017

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PubMed ID

18425436