(Q74708353)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12208137%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Impact of patient mutations on heterodimer formation and function in human galactose-1-P uridylyltransferase (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12208137%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

author name string

Nicole C Christacos

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12208137%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Judith L Fridovich-Keil

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12208137%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

publication date

1 August 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12208137%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

12 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12208137%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

volume

76

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12208137%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12208137%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

page(s)

319-326

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12208137%20AND%20SRC:MED&resulttype=core&format=json

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

12 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900109-9

7 January 2021

Long‐term prognosis in galactosaemia: Results of a survey of 350 cases

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900109-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900109-9

7 January 2021

Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900109-9

7 January 2021

Molecular and biochemical basis of galactosemia

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900109-9

7 January 2021

Three-dimensional structure of galactose-1-phosphate uridylyltransferase from Escherichia coli at 1.8 A resolution

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900109-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900109-9

7 January 2021

Interallelic Complementation in Hybrid Cells Derived from Human Diploid Strains Deficient in Galactose-1-Phosphate Uridyl Transferase Activity

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900109-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900109-9

7 January 2021

Functional consequence of substitutions at residue 171 in human galactose-1-phosphate uridylyltransferase

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900109-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900109-9

7 January 2021

A method for gene disruption that allows repeated use of URA3 selection in the construction of multiply disrupted yeast strains

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900109-9

7 January 2021

A ten-minute DNA preparation from yeast efficiently releases autonomous plasmids for transformation of Escherichia coli

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900109-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900109-9

7 January 2021

Rapid cloning by homologous recombination in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900109-9

7 January 2021

Characterization of the N314D allele of human galactose-1-phosphate uridylyltransferase using a yeast expression system

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900109-9

7 January 2021

A yeast expression system for human galactose-1-phosphate uridylyltransferase

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900109-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900109-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900109-9

7 January 2021

10.1016/S1096-7192(02)00109-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12208137%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference