Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A (Q81892365)

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13 January 2020

title

Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A (English)

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13 January 2020

1

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Jens Thostrup Bukrinsky

2

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13 January 2020

Zeynep Tumer

6

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author name string

Anne Mølgaard

3

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13 January 2020

Marianne Paulsen

4

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13 January 2020

Connie Lund

5

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13 January 2020

Sine Larsen

7

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Nina Horn

8

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13 January 2020

publication date

1 August 2005

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13 January 2020

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13 January 2020

volume

26

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13 January 2020

issue

2

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13 January 2020

page(s)

84-93

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Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease

13 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

The catalytic domain of the P-type ATPase has the haloacid dehalogenase fold

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Identification of ion-selectivity determinants in heavy-metal transport P1B-type ATPases.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Evolution of substrate specificities in the P-type ATPase superfamily.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Expression of the human Menkes ATPase in Xenopus laevis oocytes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Menkes' kinky-hair syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Molecular structure of the Menkes disease gene (ATP7A)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Variability in clinical expression of Menkes syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

A simple method for the preparation of plasmid and chromosomal E. coli DNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Menkes Disease and the Occipital Horn Syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Functional analysis of chimeric proteins of the Wilson Cu(I)-ATPase (ATP7B) and ZntA, a Pb(II)/Zn(II)/Cd(II)-ATPase from Escherichia coli

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Improved methods for building protein models in electron density maps and the location of errors in these models

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Metabolic and molecular bases of Menkes disease and occipital horn syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Eukaryotic Expression Vectors That Replicate to Low Copy Number in Bacteria: Transient Expression of the Menkes Protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Crystal structures of reaction intermediates of L-2-haloacid dehalogenase and implications for the reaction mechanism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

A mutational study in the transmembrane domain of Ccc2p, the yeast Cu(I)-ATPase, shows different roles for each Cys-Pro-Cys cysteine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Organization of P-type ATPases: significance of structural diversity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Mutation of aspartic acid-351, lysine-352, and lysine-515 alters the Ca2+ transport activity of the Ca2+-ATPase expressed in COS-1 cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Roles of conserved P domain residues and Mg2+ in ATP binding in the ground and Ca2+-activated states of sarcoplasmic reticulum Ca2+-ATPase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Isolation of a partial candidate gene for Menkes disease by positional cloning

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Structural organization, ion transport, and energy transduction of P-type ATPases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Functional expression of the menkes disease protein reveals common biochemical mechanisms among the copper-transporting P-type ATPases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Importance of conserved alpha -subunit segment 709GDGVND for Mg2+ binding, phosphorylation, and energy transduction in Na,K-ATPase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

ProMod and Swiss-Model: Internet-based tools for automated comparative protein modelling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Dideoxy fingerprinting (ddF): A rapid and efficient screen for the presence of mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

The role of GMXCXXC metal binding sites in the copper-induced redistribution of the Menkes protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

GS28, a 28-kilodalton Golgi SNARE that participates in ER-Golgi transport

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Electrophysiological and 99mTc-HMPAO-SPECT studies in Menkes disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Crystal structure of the calcium pump of sarcoplasmic reticulum at 2.6 A resolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Structural changes in the calcium pump accompanying the dissociation of calcium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Characterization of the exon structure of the Menkes disease gene using vectorette PCR

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Mutation spectrum of ATP7A, the gene defective in Menkes disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

ATP-dependent copper transport by the Menkes protein in membrane vesicles isolated from cultured Chinese hamster ovary cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Functional analysis of the N-terminal CXXC metal-binding motifs in the human Menkes copper-transporting P-type ATPase expressed in cultured mammalian cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

The regulation of catalytic activity of the menkes copper-translocating P-type ATPase. Role of high affinity copper-binding sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Biochemical characterization and intracellular localization of the Menkes disease protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20190

7 January 2021

Identifiers

DOI

10.1002/HUMU.20190

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15981243%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

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