(Q34409454)

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A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

1 reference

Europe PubMed Central

A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

distal muscular dystrophy

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

object named as

Ichizo Nishino

3

0 references

author name string

May Christine V Malicdan

1

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Satoru Noguchi

2

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

publication date

1 March 2010

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Therapeutic advances in neurological disorders

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

127-135

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002646

6 July 2018

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002646

6 July 2018

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002646

6 July 2018

Molecular pathomechanism of distal myopathy with rimmed vacuoles.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002646

6 July 2018

Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002646

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002646

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002646

6 July 2018

Lec3 Chinese Hamster Ovary Mutants Lack UDP-N-acetylglucosamine 2-Epimerase Activity Because of Mutations in the Epimerase Domain of the Gne Gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002646

6 July 2018

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002646

6 July 2018

Sialylation is essential for early development in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002646

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002646

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002646

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002646

6 July 2018

Modification of sialic acid metabolism of murine erythroleukemia cells by analogs of N-acetylmannosamine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002646

6 July 2018

Oral and intraperitoneal administration of N-acetylneuraminic acid: effect on rat cerebral and cerebellar N-acetylneuraminic acid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002646

6 July 2018

Sialic acid uptake by fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002646

6 July 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F1756285609359546

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F1756285609359546

21 January 2018

Engineering the sialic acid in organs of mice using N-propanoylmannosamine

1 reference

https://api.crossref.org/works/10.1177%2F1756285609359546

21 January 2018

Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy

1 reference

https://api.crossref.org/works/10.1177%2F1756285609359546

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/10.1177%2F1756285609359546

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F1756285609359546

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F1756285609359546

21 January 2018

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.

1 reference

https://api.crossref.org/works/10.1177%2F1756285609359546

21 January 2018

Uptake, metabolism and excretion of orally and intravenously administered, 14C- and 3H-labeled N-acetylneuraminic acid mixture in the mouse and rat.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002646

27 October 2018

Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM

1 reference

https://api.crossref.org/works/10.1177%2F1756285609359546

21 January 2018

A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy

1 reference

https://api.crossref.org/works/10.1177%2F1756285609359546

21 January 2018

Identifiers

10.1177/1756285609359546

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

ResearchGate publication ID

0 references

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