Drug targets in Menkes disease - prospective developments (Q35050435)

6 August 2017

title

Drug targets in Menkes disease - prospective developments (English)

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6 August 2017

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Hiroko Kodama

1

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6 August 2017

Yan-Hong Gu

series ordinal

2

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6 August 2017

Makiko Mizunuma

series ordinal

3

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6 August 2017

language of work or name

English

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publication date

1 October 2001

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Expert Opinion on Therapeutic Targets

6 August 2017

published in

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6 August 2017

volume

5

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6 August 2017

issue

5

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6 August 2017

page(s)

625-635

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Menkes' kinky hair disease: further definition of the defect in copper transport

6 August 2017

cites work

1 reference

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Primary defect in copper transport underlies mottled mutants in the mouse

21 January 2018

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Intracellular copper routing: the role of copper chaperones

21 January 2018

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Structural basis for copper transfer by the metallochaperone for the Menkes/Wilson disease proteins

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Molecular structure of the Menkes disease gene (ATP7A)

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

The mottled gene is the mouse homologue of the Menkes disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

N-terminal domains of human copper-transporting adenosine triphosphatases (the Wilson's and Menkes disease proteins) bind copper selectively in vivo and in vitro with stoichiometry of one copper per metal-binding repeat.

21 January 2018

1 reference

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Stoichiometry of complex formation between Copper(I) and the N-terminal domain of the Menkes protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Biochemical characterization and intracellular localization of the Menkes disease protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network

21 January 2018

1 reference

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A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice

21 January 2018

1 reference

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Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease

21 January 2018

1 reference

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The metallochaperone Atox1 plays a critical role in perinatal copper homeostasis

21 January 2018

1 reference

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Atypical Menkes steely hair disease.

21 January 2018

1 reference

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Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

21 January 2018

1 reference

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A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome

21 January 2018

1 reference

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A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

21 January 2018

1 reference

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Molecular genetics and pathophysiology of Menkes disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

New insights into copper monooxygenases and peptide amidation: structure, mechanism and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Alterations in copper and collagen metabolism in Menkes' syndrome and a new subtype of Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Expression and accumulation of lysyl oxidase, elastin, and type I procollagen in human Menkes and mottled mouse fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Catecholamine metabolism in kinky hair disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Congenital copper deficiency: copper therapy and dopamine-beta-hydroxylase activity in the mottled (brindled) mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype.

21 January 2018

1 reference

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Uptake of 67copper complexed to 3H-histidine by brain hypothalamic slices: evidence that dissociation of the complex is not the only factor determining 67copper uptake

21 January 2018

1 reference

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Further characterization of the process of in vitro uptake of radiolabeled copper by the rat brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Copper infusion therapy in trichopoliodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Correction of cerebrospinal fluid copper in Menkes kinky hair disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Clinical and biochemical consequences of copper-histidine therapy in Menkes disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Genetic expression of Menkes disease in cultured astrocytes of the macular mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Recent developments in Menkes disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Reversible, late-onset disulfiram-induced neuropathy and encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Basal ganglia infarction in a child with disulfiram poisoning

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

MRI findings in a case of late onset disulfiram-induced neurotoxicity.

21 January 2018

1 reference

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Differentiation of disulfiram effects on central catecholamines and hepatic ethanol metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Clinical manifestations and treatment of Menkes disease and its variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Expression of mRNAs for Lysyl Oxidase and Type III Procollagen in Cultured Fibroblasts from Patients with the Menkes and Occipital Horn Syndromes as Determined by Quantitative Polymerase Chain Reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

Degradation and Inactivation of Antitumor Drugs

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.5.5.625

21 January 2018

Identifiers

DOI

10.1517/14728222.5.5.625

1 reference

release_c4mgy33ipjhzvifs6dcl4pcxga

6 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/c4mgy33ipjhzvifs6dcl4pcxga

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference