(Q40555085)

English

The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy

scientific article published on May 2004

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Europe PubMed Central

PubMed publication ID

21 September 2017

The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy (English)

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Europe PubMed Central

PubMed publication ID

21 September 2017

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Tamara Potikha

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Stephan Hinderlich

1

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Europe PubMed Central

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21 September 2017

Ilan Salama

2

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21 September 2017

Iris Eisenberg

3

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21 September 2017

Tamara Potikha

4

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21 September 2017

Lars R Mantey

5

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21 September 2017

Kevin J Yarema

6

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21 September 2017

Rüdiger Horstkorte

7

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21 September 2017

Zohar Argov

8

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21 September 2017

Menachem Sadeh

9

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21 September 2017

Werner Reutter

10

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21 September 2017

Stella Mitrani-Rosenbaum

11

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21 September 2017

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publication date

1 May 2004

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21 September 2017

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21 September 2017

566

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21 September 2017

1-3

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21 September 2017

105-109

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Europe PubMed Central

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21 September 2017

"Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2004.04.013

21 January 2018

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2004.04.013

21 January 2018

Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2004.04.013

21 January 2018

UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2004.04.013

21 January 2018

Sialic acids structure-analysis-metabolism-occurrence-recognition

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2004.04.013

21 January 2018

Contact and adhesive specificities in the associations, migrations, and targeting of cells and axons

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2004.04.013

21 January 2018

Cell adhesion molecules: implications for a molecular histology

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2004.04.013

21 January 2018

A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2004.04.013

21 January 2018

Selective loss of either the epimerase or kinase activity of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase due to site-directed mutagenesis based on sequence alignments

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2004.04.013

21 January 2018

Sialylation is essential for early development in mice

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2004.04.013

21 January 2018

Biosynthesis of N-acetylneuraminic acid in cells lacking UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2004.04.013

21 January 2018

Protein kinase C phosphorylates and regulates UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2004.04.013

21 January 2018

Evidence for efficient uptake and incorporation of sialic acid by eukaryotic cells

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2004.04.013

21 January 2018

Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2004.04.013

21 January 2018

Genetics of inclusion body myopathies

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2004.04.013

21 January 2018

Identifiers

10.1016/J.FEBSLET.2004.04.013

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

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