Hereditary inclusion body myopathy: a decade of progress (Q28251720)

Hereditary inclusion body myopathy

Europe PubMed Central

title

Hereditary inclusion body myopathy: a decade of progress (English)

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main subject

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1

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author name string

Donna M Krasnewich

series ordinal

2

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language of work or name

English

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publication date

September 2009

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published in

Biochimica et Biophysica Acta

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volume

1792

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issue

9

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page(s)

881-7

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cites work

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Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737)

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

20 March 2017

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A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence

20 March 2017

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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

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Hereditary inclusion body myopathy maps to chromosome 9p1-q1

20 March 2017

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Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant

20 March 2017

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An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene

20 March 2017

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Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation

20 March 2017

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Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.

20 March 2017

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A case of hereditary inclusion body myopathy: 1 patient, 2 novel mutations

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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Sizing up sialic acid in glomerular disease

29 September 2017

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

29 September 2017

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Molecular pathomechanism of distal myopathy with rimmed vacuoles.

29 September 2017

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Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy

29 September 2017

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29 September 2017

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Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy

29 September 2017

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Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy

29 September 2017

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Distal myopathy with rimmed vacuoles: impaired O-glycan formation in muscular glycoproteins

29 September 2017

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Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

Sialylation is essential for early development in mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

New advances in the understanding of sporadic inclusion-body myositis and hereditary inclusion-body myopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

Inclusion body myositis and myopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

Sialic acids as ligands in recognition phenomena.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

Hereditary disorders among Iranian Jews

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

Mitochondrial processes are impaired in hereditary inclusion body myopathy.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

Prediction of three different isoforms of the human UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

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.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

Mutation analysis of theGNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

Biosynthetic incorporation of unnatural sialic acids into polysialic acid on neural cells

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

Vacuolar myopathy sparing the quadriceps

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2748147

[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis]

27 November 2018

1 reference

12 December 2020

NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations

1 reference

12 December 2020

The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews

1 reference

12 December 2020

Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy

1 reference

12 December 2020

Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects

1 reference

12 December 2020

Fine-structure mapping of the hereditary inclusion body myopathy locus

1 reference

12 December 2020

GNE mutations causing distal myopathy with rimmed vacuoles with inflammation

1 reference

12 December 2020

alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy

1 reference

12 December 2020

Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13

1 reference

12 December 2020

Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9

1 reference

12 December 2020

Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family

1 reference

12 December 2020

Familial inclusion body myositis among Kurdish-Iranian Jews

1 reference

12 December 2020

Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy

1 reference

12 December 2020

Sialic acid metabolism in sialuria fibroblasts

1 reference

12 December 2020

Inclusion body myositis

1 reference

12 December 2020

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy

1 reference

12 December 2020