A Drosophila melanogaster model of classic galactosemia (Q34098130)

31 July 2017

A Drosophila melanogaster model of classic galactosemia (English)

1 reference

Galactose-1-phosphate uridylyltransferase Dmel_CG9232

31 July 2017

Drosophila melanogaster

0 references

galactosemia

0 references

1 reference

Galactokinase Dmel_CG5288

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

Rebekah F Kushner

1

1 reference

31 July 2017

Emily L Ryan

2

1 reference

31 July 2017

Jennifer M I Sefton

3

1 reference

31 July 2017

Rebecca D Sanders

4

1 reference

31 July 2017

Patricia Jumbo Lucioni

5

1 reference

31 July 2017

Kenneth H Moberg

6

1 reference

31 July 2017

Judith L Fridovich-Keil

7

1 reference

31 July 2017

2 June 2010

1 reference

Disease Models & Mechanisms

31 July 2017

1 reference

31 July 2017

3

1 reference

31 July 2017

9-10

1 reference

31 July 2017

618-627

1 reference

UDP-galactose 4' epimerase (GALE) is essential for development of Drosophila melanogaster

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

Deletion of Drosophila insulin-like peptides causes growth defects and metabolic abnormalities

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

The epicurean fly: using Drosophila melanogaster to study metabolism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

5 July 2018

A cup full of functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

BEHAVIORAL MUTANTS OF Drosophila ISOLATED BY COUNTERCURRENT DISTRIBUTION

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

Epimerase-deficiency galactosemia is not a binary condition

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

UDP-galactose pyrophosphorylase in mice with galactose-1-phosphate uridyltransferase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

Drosophila, the golden bug, emerges as a tool for human genetics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

High tolerance for oral galactose in classical galactosaemia: dietary implications.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

Transposable elements as tools for genomics and genetics in Drosophila

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

Insights into the pathogenesis of galactosemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

GALT deficiency causes UDP-hexose deficit in human galactosemic cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

Diabetic flies? Using Drosophila melanogaster to understand the causes of monogenic and genetically complex diseases.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

Homophila: human disease gene cognates in Drosophila

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

Functional analysis of the mouse galactose-1-phosphate uridyl transferase (GALT)promoter

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

A prevalent mutation for galactosemia among black Americans.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

Targeted gene expression as a means of altering cell fates and generating dominant phenotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

Induction of cAMP response element-binding protein-dependent medium-term memory by appetitive gustatory reinforcement in Drosophila larvae.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

The Drosophila gene fs(2)cup interacts with otu to define a cytoplasmic pathway required for the structure and function of germ-line chromosomes.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

Untreated classical galactosemia patient with mild phenotype

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931538

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

28 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

10.1242/DMM.005041

1 reference

31 July 2017

1 reference

31 July 2017

1 reference