Correction of the Middle Eastern M712T mutation causing GNE myopathy by trans-splicing (Q39058755)

8 September 2017

Correction of the Middle Eastern M712T mutation causing GNE myopathy by trans-splicing (English)

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8 September 2017

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author name string

Tzukit Tal-Goldberg

series ordinal

1

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PubMed ID

24264357

8 September 2017

Stella Mitrani-Rosenbaum

series ordinal

3

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8 September 2017

22 November 2013

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8 September 2017

NeuroMolecular Medicine

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8 September 2017

16

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8 September 2017

322-331

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8 September 2017

2

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https://scigraph.springernature.com/pub.10.1007/s12017-013-8278-2

8 September 2017

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cites work

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

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

21 January 2018

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Trans-splicing correction of tau isoform imbalance in a mouse model of tau mis-splicing

21 January 2018

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Natural trans-splicing in carnitine octanoyltransferase pre-mRNAs in rat liver

21 January 2018

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Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy

21 January 2018

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Restoration of SMN function: delivery of a trans-splicing RNA re-directs SMN2 pre-mRNA splicing

21 January 2018

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Transgene analysis proves mRNA trans-splicing at the complex mod(mdg4) locus in Drosophila.

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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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

21 January 2018

1 reference

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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 January 2018

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Hereditary inclusion body myopathy: a decade of progress

21 January 2018

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

21 January 2018

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GNE protein expression and subcellular distribution are unaltered in HIBM.

21 January 2018

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

21 January 2018

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Exon exchange approach to repair Duchenne dystrophin transcripts

21 January 2018

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Dystrophin rescue by trans-splicing: a strategy for DMD genotypes not eligible for exon skipping approaches

21 January 2018

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Adeno-associated virus vectors can be efficiently produced without helper virus

21 January 2018

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Sustained expression and safety of human GNE in normal mice after gene transfer based on AAV8 systemic delivery

21 January 2018

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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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Spliceosome-mediated RNA trans-splicing as a tool for gene therapy

21 January 2018

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Replacement of huntingtin exon 1 by trans-splicing

21 January 2018

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

21 January 2018

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Sialylation is essential for early development in mice

21 January 2018

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The proteomic profile of hereditary inclusion body myopathy

21 January 2018

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Adeno-associated virus serotype 8 efficiently delivers genes to muscle and heart

21 January 2018

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Sialic acids as ligands in recognition phenomena.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24264357

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification of a novel Y branch structure as an intermediate in trypanosome mRNA processing: evidence for trans splicing

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24264357

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S12017-013-8278-2

1 reference

8 September 2017

1 reference

PubMed ID

24264357