Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria (Q33627531)

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English	Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

Natalya Kurochkina

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Tal Yardeni

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Marjan Huizing

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

publication date

16 November 2009

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

20

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

322-337

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Crystal Structure of the N-Acetylmannosamine Kinase Domain of GNE

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

Hereditary inclusion body myopathy: a decade of progress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

Crystal structures of an ATP-dependent hexokinase with broad substrate specificity from the hyperthermophilic archaeon Sulfolobus tokodaii

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

Structures of human N-Acetylglucosamine kinase in two complexes with N-Acetylglucosamine and with ADP/glucose: insights into substrate specificity and regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human 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=2815652

21 June 2018

Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

Characterization of ligand binding to the bifunctional key enzyme in the sialic acid biosynthesis by NMR: I. Investigation of the UDP-GlcNAc 2-epimerase functionality.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

Characterization of ligand binding to the bifunctional key enzyme in the sialic acid biosynthesis by NMR: II. Investigation of the ManNAc kinase functionality

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

Crystal structures of Escherichia coli ATP-dependent glucokinase and its complex with glucose

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 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=2815652

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

The first archaeal ATP-dependent glucokinase, from the hyperthermophilic crenarchaeon Aeropyrum pernix, represents a monomeric, extremely thermophilic ROK glucokinase with broad hexose specificity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 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=2815652

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 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=2815652

21 June 2018

Metabolic selection of glycosylation defects in human cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

Dominant inheritance of sialuria, an inborn error of feedback inhibition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

The structure of UDP-N-acetylglucosamine 2-epimerase reveals homology to phosphoglycosyl transferases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

Gene ontology: tool for the unification of biology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

The high resolution crystal structure of yeast hexokinase PII with the correct primary sequence provides new insights into its mechanism of action

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

Phi/psi-chology: Ramachandran revisited

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

A thermodynamic scale for leucine zipper stability and dimerization specificity: e and g interhelical interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

Helix to helix packing in proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

Principles that determine the structure of proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

Comparison of super-secondary structures in proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

X-ray scattering indicates that the leucine zipper is a coiled coil

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

The Protein Data Bank: a computer-based archival file for macromolecular structures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

21 June 2018

Specific sequence combinations at parallel and antiparallel helix-helix interfaces

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

30 October 2018

Evidence for dynamic interplay of different oligomeric states of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase by biophysical methods.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

30 October 2018

Amino acid composition of parallel helix-helix interfaces

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

30 October 2018

Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on 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=2815652

30 October 2018

Mutation analysis of the GNE gene in Korean patients with 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=2815652

30 October 2018

Structural analysis of a set of proteins resulting from a bacterial genomics project.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

30 October 2018

The crystal structure of Mlc, a global regulator of sugar metabolism in Escherichia coli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

30 October 2018

Crystal structure of bacterial inorganic polyphosphate/ATP-glucomannokinase. Insights into kinase evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

30 October 2018

Clinical course and biochemistry of sialuria.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815652

30 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19917666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GNE mutations causing distal myopathy with rimmed vacuoles with inflammation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19917666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19917666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19917666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autophosphorylation-inactivation site of hexokinase 2 in Saccharomyces cerevisiae

1 reference

https://pubmed.ncbi.nlm.nih.gov/19917666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sialic acid metabolism in sialuria fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/19917666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19917666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/GLYCOB/CWP176

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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