(Q73298352)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117433%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117433%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

author name string

T M Wohlers

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117433%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

J L Fridovich-Keil

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117433%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

publication date

1 November 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117433%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

number of pages

17

1 reference

Journal of Inherited Metabolic Disease

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117433%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117433%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117433%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

713-729

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117433%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/a:1005682913784

2 November 2019

exact match

0 references

cites work

UDPgalactose epimerase in lens and fibroblasts: activity expression in patients with cataracts and mental retardation

1 reference

12 December 2020

Galactose-1-phosphate in the pathophysiology of galactosemia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The substrate specificity of fumarase

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation

1 reference

12 December 2020

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

1 reference

12 December 2020

Galactose-1-phosphate in galactosemia

1 reference

12 December 2020

Co-purification and characterization of UDP-glucose 4-epimerase and UDP-N-acetylglucosamine 4-epimerase from porcine submaxillary glands

1 reference

12 December 2020

Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families

1 reference

12 December 2020

The specificity of UDP-glucose 4-epimerase from the yeast Saccharomyces fragilis

1 reference

12 December 2020

Expression of human inositol monophosphatase suppresses galactose toxicity in Saccharomyces cerevisiae: possible implications in galactosemia

1 reference

12 December 2020

The enzymic interconversion of uridine diphosphogalactose and uridine diphosphoglucose

1 reference

12 December 2020

Purification, stabilization, and properties of bovine mammary UDP-galactose 4-epimerase

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase

1 reference

12 December 2020

Purification and properties of uridine diphosphate galactose-4-epimerase from yeast

1 reference

12 December 2020

Interaction of nucleotides with liver uridine diphosphate-glucose-4'-epimerase

1 reference

12 December 2020

The enzymic conversion of glucosamine to galactosamine

1 reference

12 December 2020

The metabolism of galactose by galactosemic fibroblasts in vitro

1 reference

12 December 2020

Molecular characterization of a unique patient with epimerase-deficiency galactosaemia

1 reference

12 December 2020

A patient with severe type of epimerase deficiency galactosaemia

1 reference

12 December 2020

Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Preliminary communication

1 reference

12 December 2020

ENZYMATIC EXPRESSION AND GENETIC LINKAGE OF GENES CONTROLLING GALACTOSE UTILIZATION IN SACCHAROMYCES.

1 reference

12 December 2020

A mouse model of galactose-1-phosphate uridyl transferase deficiency

1 reference

12 December 2020

Uridine diphosphate galactose 4-epimerase deficiency. II. Clinical follow-up, biochemical studies and family investigation

1 reference

12 December 2020

Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase

1 reference

12 December 2020

Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency

1 reference

12 December 2020

Multiple copies of MRG19 suppress transcription of the GAL1 promoter in a GAL80-dependent manner in Saccharomyces cerevisiae

1 reference

12 December 2020

Functional requirements of the active site position 185 in the human enzyme galactose-1-phosphate uridylyltransferase.

1 reference

12 December 2020

A study of galactokinase and glucose 4-epimerase from normal and galactosemic skin fibroblasts

1 reference

12 December 2020

Reversible defects in O-linked glycosylation and LDL receptor expression in a UDP-Gal/UDP-GalNAc 4-epimerase deficient mutant

1 reference

12 December 2020

New yeast-Escherichia coli shuttle vectors constructed with in vitro mutagenized yeast genes lacking six-base pair restriction sites

1 reference

12 December 2020

Effect of galactose on energy and phospholipid metabolism in the chick brain

1 reference

12 December 2020

THE ENZYMES OF THE GALACTOSE OPERON IN ESCHERICHIA COLI. I. PURIFICATION AND CHARACTERIZATION OF URIDINE DIPHOSPHOGALACTOSE 4-EPIMERASE

1 reference

12 December 2020

Improved staining of proteins in polyacrylamide gels including isoelectric focusing gels with clear background at nanogram sensitivity using Coomassie Brilliant Blue G-250 and R-250.

1 reference

12 December 2020

Generalised uridine diphosphate galactose-4-epimerase deficiency

1 reference

12 December 2020

Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture

1 reference

12 December 2020