Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase (Q24296661)

protein homodimerization activity

GOA release 2020-03-11

1 reference

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency

GOA release 2020-03-11

author

David J. Timson

series ordinal

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language of work or name

English

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publication date

December 2005

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published in

FEBS Journal

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volume

272

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issue

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page(s)

6170-7

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cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

High-resolution X-ray structure of UDP-galactose 4-epimerase complexed with UDP-phenol

1 reference

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7 January 2021

The isolation, purification, and preliminary crystallographic characterization of UDP-galactose-4-epimerase from Escherichia coli.

1 reference

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7 January 2021

The molecular structure of UDP-galactose 4-epimerase from Escherichia coli determined at 2.5 A resolution

1 reference

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7 January 2021

The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression

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7 January 2021

Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Molecular basis of disorders of human galactose metabolism: past, present, and future.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Galactokinase: structure, function and role in type II galactosemia

1 reference

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7 January 2021

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

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7 January 2021

UDP-galactose 4-epimerase from Kluyveromyces fragilis: existence of subunit independent functional site

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Cloning and characterisation of the UDP-glucose 4'-epimerase of Trypanosoma cruzi.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Identification and characterisation of human aldose 1-epimerase

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

High-resolution crystal structure of Trypanosoma brucei UDP-galactose 4'-epimerase: a potential target for structure-based development of novel trypanocides

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Crystallographic evidence for Tyr 157 functioning as the active site base in human UDP-galactose 4-epimerase

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Fluorescence and nucleotide binding properties of Escherichia coli uridine diphosphate galactose 4-epimerase: support for a model for nonstereospecific action

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Acid-base catalysis by UDP-galactose 4-epimerase: correlations of kinetically measured acid dissociation constants with thermodynamic values for tyrosine 149.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Crystal structures of the oxidized and reduced forms of UDP-galactose 4-epimerase isolated from Escherichia coli

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Structural analysis of UDP-sugar binding to UDP-galactose 4-epimerase from Escherichia coli

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Differences in uridine diphosphate galactose-4-epimerase between haemolysates of newborns and of adults.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Short-chain dehydrogenases/reductases (SDRs).

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Functional analysis of disease‐causing mutations in human galactokinase

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Uridine diphosphate-4-keto-glucose, an intermediate in the uridine diphosphate-galactose-4-epimerase reaction

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Thermodynamic stability of wild-type and mutant p53 core domain

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Human UDP-galactose 4-epimerase. Accommodation of UDP-N-acetylglucosamine within the active site

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

The molecular architecture of galactose mutarotase/UDP-galactose 4-epimerase from Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Structure and function of enzymes of the Leloir pathway for galactose metabolism

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

The Leloir pathway: a mechanistic imperative for three enzymes to change the stereochemical configuration of a single carbon in galactose.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Short-chain dehydrogenase/reductase (SDR) relationships: a large family with eight clusters common to human, animal, and plant genomes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Generalised uridine diphosphate galactose-4-epimerase deficiency

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

An Algorithm for Least-Squares Estimation of Nonlinear Parameters

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021

Two-stage PCR protocol allowing introduction of multiple mutations, deletions and insertions using QuikChange Site-Directed Mutagenesis

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.05017.X

7 January 2021