(Q31816099)

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

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scholarly article

1 reference

Europe PubMed Central

4 July 2017

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

1 reference

Europe PubMed Central

4 July 2017

1 reference

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author name string

K Riehman

1

1 reference

Europe PubMed Central

4 July 2017

C Crews

2

1 reference

Europe PubMed Central

4 July 2017

J L Fridovich-Keil

3

1 reference

Europe PubMed Central

4 July 2017

language of work or name

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publication date

4 January 2001

1 reference

Europe PubMed Central

4 July 2017

Journal of Biological Chemistry

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Europe PubMed Central

4 July 2017

276

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Europe PubMed Central

4 July 2017

14

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Europe PubMed Central

4 July 2017

10634-10640

1 reference

Europe PubMed Central

4 July 2017

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Molecular and biochemical basis of galactosemia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

A molecular approach to galactosemia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

The relationship of genotype to cognitive outcome in galactosaemia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Overexpression, purification, and characterization of yeast cyclophilins A and B

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

A prevalent mutation for galactosemia among black Americans.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Molecular characterization of galactosemia (type 1) mutations in Japanese.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

The human galactose-1-phosphate uridyltransferase gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Subcellular localization of galactose-1-phosphate uridylyltransferase in the yeast Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

A mouse model of galactose-induced cataracts

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Overexpression of human UDP-glucose pyrophosphorylase rescues galactose-1-phosphate uridyltransferase-deficient yeast

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Radiochemical assay of minute quantities of galactose-1-phosphate uridyltransferase activity in erythrocytes and leukocytes of galactosemia patients

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Transient kinetics of formation and reaction of the uridylyl-enzyme form of galactose-1-P uridylyltransferase and its Q168R-variant: insight into the molecular basis of galactosemia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Molecular characterization of Polish patients with classical galactosaemia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Transferase-deficiency galactosemia: Immunochemical studies of the Duarte and Los Angeles variants

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: two new mutations in the GALT gene which cause a GALT activity decrease by 40-50% of normal in red cells

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009583200

21 January 2018

Identifiers

10.1074/JBC.M009583200

1 reference

Europe PubMed Central

4 July 2017

1 reference

Europe PubMed Central

4 July 2017

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