Functional analysis of disease‐causing mutations in human galactokinase (Q24299794)

https://api.crossref.org/works/10.1046/J.1432-1033.2003.03538.X

23 December 2023

1 reference

GOA release 2020-03-11

ATP binding

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GOA release 2020-03-11

missense mutation

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12694189

23 December 2023

1 reference

https://api.crossref.org/works/10.1046/J.1432-1033.2003.03538.X

23 December 2023

1

David J. Timson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12694189

23 December 2023

author name string

Richard J. Reece

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12694189

full work available at URL

23 December 2023

language of work or name

English

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publication date

April 2003

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https://febs.onlinelibrary.wiley.com/doi/pdfdirect/10.1046/j.1432-1033.2003.03538.x

file format

Portable Document Format

online access status

open access

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12694189

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1432-1033.2003.03538.x

23 December 2023

1 reference

https://api.crossref.org/works/10.1046/J.1432-1033.2003.03538.X

https://febs.onlinelibrary.wiley.com/doi/pdf/10.1046/j.1432-1033.2003.03538.x

23 December 2023

1 reference

https://api.crossref.org/works/10.1046/J.1432-1033.2003.03538.X

23 December 2023

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270

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issue

8

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page(s)

1767-74

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cites work

A mouse model of galactose-induced cataracts

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Structural basis for the catalysis and substrate specificity of homoserine kinase

20 April 2017

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Structure of the Methanococcus jannaschii mevalonate kinase, a member of the GHMP kinase superfamily

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The structure of a binary complex between a mammalian mevalonate kinase and ATP: insights into the reaction mechanism and human inherited disease

20 April 2017

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Crystal structure of the Streptococcus pneumoniae phosphomevalonate kinase, a member of the GHMP kinase superfamily

20 April 2017

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Structural genomics of enzymes involved in sterol/isoprenoid biosynthesis

20 April 2017

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A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)

20 April 2017

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A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians

20 April 2017

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A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

20 April 2017

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The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry

20 April 2017

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Molecular basis of disorders of human galactose metabolism: past, present, and future.

21 January 2018

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The insertion of two amino acids into a transcriptional inducer converts it into a galactokinase

21 January 2018

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https://api.crossref.org/works/10.1046%2FJ.1432-1033.2003.03538.X

Kinetic studies with liver galactokinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1432-1033.2003.03538.X

Some properties of galactokinase in developing rat liver

21 January 2018

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Kinetic analysis of yeast galactokinase: implications for transcriptional activation of the GAL genes

21 January 2018

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Kinetic and mechanistic studies of prolyl oligopeptidase from the hyperthermophile Pyrococcus furiosus

21 January 2018

1 reference

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Is there a catalytic base in the active site of cAMP-dependent protein kinase?

21 January 2018

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Metabolic control analysis in drug discovery and disease

21 January 2018

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Structure and mechanism of homoserine kinase: prototype for the GHMP kinase superfamily

21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

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

1

1 reference

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Convergent evolution of similar enzymatic function on different protein folds: the hexokinase, ribokinase, and galactokinase families of sugar kinases

23 December 2023

5

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Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts

23 December 2023

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1 reference

https://api.crossref.org/works/10.1046/J.1432-1033.2003.03538.X

Novel mutations in 13 probands with galactokinase deficiency.

23 December 2023

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https://api.crossref.org/works/10.1046/J.1432-1033.2003.03538.X

Novel mutations in the GALK1 gene in patients with galactokinase deficiency

23 December 2023

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1 reference

https://api.crossref.org/works/10.1046/J.1432-1033.2003.03538.X

Kinetic studies of Escherichia coli galactokinase

23 December 2023

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Purification and mechanism of action of a plant galactokinase

23 December 2023

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Galactokinase of Vicia faba seeds

23 December 2023

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Two-stage PCR protocol allowing introduction of multiple mutations, deletions and insertions using QuikChange Site-Directed Mutagenesis

23 December 2023

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https://api.crossref.org/works/10.1046/J.1432-1033.2003.03538.X

An Algorithm for Least-Squares Estimation of Nonlinear Parameters

23 December 2023

27

1 reference

https://api.crossref.org/works/10.1046/J.1432-1033.2003.03538.X

Purification and kinetic properties of galactokinase from human placenta

23 December 2023

29

1 reference

https://api.crossref.org/works/10.1046/J.1432-1033.2003.03538.X

The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe

23 December 2023

32

1 reference

https://api.crossref.org/works/10.1046/J.1432-1033.2003.03538.X

An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening

23 December 2023

33

1 reference

https://api.crossref.org/works/10.1046/J.1432-1033.2003.03538.X

23 December 2023

Identifiers

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