(Q30668563)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27005423%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

title

Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27005423%20AND%20SRC:MED&resulttype=core&format=json

Galactose-1-phosphate uridylyltransferase

30 March 2020

main subject

galactosemia

0 references

1 reference

GOA release 2020-03-11

zinc ion binding

1 reference

GOA release 2020-03-11

author

Angel L. Pey

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27005423%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

author name string

Thomas J McCorvie

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27005423%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Jolanta Kopec

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27005423%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Fiona Fitzpatrick

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27005423%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Dipali Patel

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27005423%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Rod Chalk

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27005423%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Leela Shrestha

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27005423%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Wyatt W Yue

8

1 reference

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30 March 2020

publication date

22 March 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27005423%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27005423%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

volume

25

1 reference

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30 March 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27005423%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

page(s)

2234-2244

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27005423%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

30 March 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5081055/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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Manganese-based superoxide dismutase mimics modify both acute and long-term outcome severity in a Drosophila melanogaster model of classic galactosemia

20 June 2018

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20 June 2018

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20 June 2018

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Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade

20 June 2018

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Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene

20 June 2018

1 reference

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Differential glycomics of epithelial membrane glycoproteins from urinary exovesicles reveals shifts toward complex-type N-glycosylation in classical galactosemia

20 June 2018

1 reference

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Innovative therapy for Classic Galactosemia - tale of two HTS.

20 June 2018

1 reference

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Structural and molecular biology of type I galactosemia: disease-associated mutations

20 June 2018

1 reference

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The structural and molecular biology of type I galactosemia: Enzymology of galactose 1-phosphate uridylyltransferase

20 June 2018

1 reference

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The adult galactosemic phenotype

20 June 2018

1 reference

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Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders

20 June 2018

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The missing Zinc: p53 misfolding and cancer

20 June 2018

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Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism

20 June 2018

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Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach

20 June 2018

1 reference

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20 June 2018

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GALT protein database, a bioinformatics resource for the management and analysis of structural features of a galactosemia-related protein and its mutants

20 June 2018

1 reference

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

1 reference

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

1 reference

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Small-molecule-mediated stabilization of familial amyotrophic lateral sclerosis-linked superoxide dismutase mutants against unfolding and aggregation

20 June 2018

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20 June 2018

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20 June 2018

1 reference

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20 June 2018

1 reference

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

20 June 2018

1 reference

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20 June 2018

1 reference

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GALT deficiency causes UDP-hexose deficit in human galactosemic cells

20 June 2018

1 reference

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Hint, Fhit, and GalT: function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081055

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081055

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081055

Structural analysis of the H166G site-directed mutant of galactose-1-phosphate uridylyltransferase complexed with either UDP-glucose or UDP-galactose: detailed description of the nucleotide sugar binding site

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081055

The structure of nucleotidylated histidine-166 of galactose-1-phosphate uridylyltransferase provides insight into phosphoryl group transfer

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081055

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081055

Three-Dimensional Structure of Galactose-1-phosphate Uridylyltransferase from Escherichia coli at 1.8 .ANG. Resolution

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081055

IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia

20 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW091

N-glycan abnormalities in children with galactosemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW091

Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW091

Significance of metal ions in galactose-1-phosphate uridylyltransferase: an essential structural zinc and a nonessential structural iron

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW091

Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW091

A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW091

Structure-function analyses of a common mutation in blacks with transferase-deficiency galactosemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW091

Dual role of hexose-1-phosphate uridylyltransferase in galactosamine metabolism

21 January 2018

1 reference

12 December 2020

The biochemical role of glutamine 188 in human galactose-1-phosphate uridyltransferase

1 reference

12 December 2020

Galactose-1-phosphate in galactosemia

1 reference

12 December 2020

Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosaemia

1 reference

12 December 2020

Homology Modeling Studies on Human Galactose-1-phosphate Uridylyltransferase and on Its Galactosemia-Related Mutant Q188R Provide an Explanation of Molecular Effects of the Mutation on Homo- and Heterodimers

1 reference

12 December 2020

Molecular aspects of human cellular zinc homeostasis: redox control of zinc potentials and zinc signals

1 reference

12 December 2020

Covalent heterogeneity of the human enzyme galactose-1-phosphate uridylyltransferase

1 reference

12 December 2020

The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDW091

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27005423%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27005423%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

PubMed publication ID

27005423

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27005423%20AND%20SRC:MED&resulttype=core&format=json