GNE is involved in the early development of skeletal and cardiac muscle (Q27334498)

1

0 references

Ilan Sela

2

0 references

Rachel Eiges

3

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Véronique Blanchard

4

0 references

Markus Berger

5

0 references

Michal Becker Cohen

6

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Stella Mitrani-Rosenbaum

Creative Commons Attribution 4.0 International

7

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language of work or name

English

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publication date

2011

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published in

PLOS One

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volume

6

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page(s)

e21389

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issue

6

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copyright license

start time

24 June 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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The collapsin response mediator protein 1 (CRMP-1) and the promyelocytic leukemia zinc finger protein (PLZF) bind to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of sialic acid biosynthesis

21 March 2017

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Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme

21 March 2017

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

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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

21 March 2017

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The proteomic profile of hereditary inclusion body myopathy

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Polysialyltransferases: major players in polysialic acid synthesis on the neural cell adhesion molecule

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MyoR: a muscle-restricted basic helix-loop-helix transcription factor that antagonizes the actions of MyoD

21 March 2017

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Induction of GNE in myofibers after muscle injury

21 March 2017

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Cell surface sialylation and fucosylation are regulated by L1 via phospholipase Cgamma and cooperate to modulate neurite outgrowth, cell survival and migration

29 September 2017

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UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle?

29 September 2017

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GNE protein expression and subcellular distribution are unaltered in HIBM.

29 September 2017

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Reduced sialylation status in UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)-deficient mice

29 September 2017

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Mechanism of uptake and incorporation of the non-human sialic acid N-glycolylneuraminic acid into human cells

29 September 2017

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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

29 September 2017

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THE FEEDBACK CONTROL OF SUGAR NUCLEOTIDE BIOSYNTHESIS IN LIVER

29 September 2017

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Sialylation is essential for early development in mice

29 September 2017

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Embryonic stem cells as a model to study cardiac, skeletal muscle, and vascular smooth muscle cell differentiation.

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

29 September 2017

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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

29 September 2017

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Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells

2 June 2018

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No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation

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

21 January 2018

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A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins

21 January 2018

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Lessons from GNE-deficient embryonic stem cells: sialic acid biosynthesis is involved in proliferation and gene expression

21 January 2018

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Regulation of apoptosis during neuronal differentiation by ceramide and b-series complex gangliosides

21 January 2018

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Roles for UDP-GlcNAc 2-epimerase/ManNAc 6-kinase outside of sialic acid biosynthesis: modulation of sialyltransferase and BiP expression, GM3 and GD3 biosynthesis, proliferation, and apoptosis, and ERK1/2 phosphorylation.

21 January 2018

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The key enzyme of sialic acid biosynthesis (GNE) promotes neurite outgrowth of PC12 cells

21 January 2018

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Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events

21 January 2018

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Sialic acids: fascinating sugars in higher animals and man

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21731727

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Polysialic acid: three-dimensional structure, biosynthesis and function

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21731727

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Determination of mono-O-acetylated N-acetylneuraminic acids in human and rat sera by fluorometric high-performance liquid chromatography

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21731727

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0021389

1 reference

606932

ADS bibcode

2011PLoSO...621389M

0 references

606932

1 reference

1 reference

1 reference