Gne depletion during zebrafish development impairs skeletal muscle structure and function. (Q45862019)

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7 March 2020

title

Gne depletion during zebrafish development impairs skeletal muscle structure and function (English)

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7 March 2020

2

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7 March 2020

Yoav Gothilf

6

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7 March 2020

Shao Jun Du

7

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7 March 2020

author name string

Alon Daya

1

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7 March 2020

Michal Becker-Cohen

3

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7 March 2020

Tzukit Tal-Goldberg

4

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7 March 2020

Adam Friedmann

5

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7 March 2020

Stella Mitrani-Rosenbaum

8

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7 March 2020

publication date

31 January 2014

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7 March 2020

published in

Human Molecular Genetics

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7 March 2020

volume

23

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7 March 2020

page(s)

3349-3361

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7 March 2020

issue

13

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

7 March 2020

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

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Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)

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GNE protein expression and subcellular distribution are unaltered in HIBM.

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

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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

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

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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

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Brain development needs sugar: the role of polysialic acid in controlling NCAM functions

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SmyD1, a histone methyltransferase, is required for myofibril organization and muscle contraction in zebrafish embryos.

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