An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. (Q38071046)

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21 February 2020

review article

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title

An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome (English)

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21 February 2020

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1

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21 February 2020

author name string

Zeynep Tümer

series ordinal

1

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28 August 2017

publication date

1 March 2013

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21 February 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23281160%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

volume

34

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23281160%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

issue

3

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21 February 2020

page(s)

417-429

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

21 February 2020

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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

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A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease

21 January 2018

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Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

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Somatic mosaicism in Menkes disease suggests choroid plexus‐mediated copper transport to the developing brain

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Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome

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Supplying copper to the cuproenzyme peptidylglycine alpha-amidating monooxygenase

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Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase

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Crystal structure of a copper-transporting PIB-type ATPase

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Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes disease.

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

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Congenital abnormalities in Japanese patients with Menkes disease

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Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement

21 January 2018

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A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis

21 January 2018

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The first reported case of Menkes disease caused by an Alu insertion mutation

21 January 2018

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

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The rate of spontaneous mutation of a human gene. 1935.

21 January 2018

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Menkes Disease and the Occipital Horn Syndrome

21 January 2018

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Primary defect in copper transport underlies mottled mutants in the mouse

21 January 2018

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A study of copper treatment and tissue copper levels in the murine congenital copper deficiency, mottled

21 January 2018

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

21 January 2018

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

21 January 2018

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Neonatal diagnosis and treatment of Menkes disease

21 January 2018

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Molecular correlates of epilepsy in early diagnosed and treated Menkes disease

21 January 2018

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Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.

21 January 2018

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Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

21 January 2018

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Identification of a novel mutation in the ATP7A gene in a Korean patient with Menkes disease

21 January 2018

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Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein

21 January 2018

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A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase

21 January 2018

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Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease

21 January 2018

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

21 January 2018

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Intracellular localization and loss of copper responsiveness of Mnk, the murine homologue of the Menkes protein, in cells from blotchy (Mo blo) and brindled (Mo br) mouse mutants

21 January 2018

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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

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Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse

21 January 2018

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

21 January 2018

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Correction of a mouse model of Menkes disease by the human Menkes gene.

21 January 2018

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

21 January 2018

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Biochemical basis of regulation of human copper-transporting ATPases

21 January 2018

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Zebrafish mutants calamity and catastrophe define critical pathways of gene-nutrient interactions in developmental copper metabolism

21 January 2018

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In vivo correction of a Menkes disease model using antisense oligonucleotides

21 January 2018

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21 January 2018

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21 January 2018

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Atp7a determines a hierarchy of copper metabolism essential for notochord development

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Phenotypic and genetic characterization of the Atp7a(Mo-Tohm) mottled mouse: a new murine model of Menkes disease

21 January 2018

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

21 January 2018

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21 January 2018

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Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.

21 January 2018

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

21 January 2018

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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

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The Menkes copper transporter is required for the activation of tyrosinase

21 January 2018

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Copper-regulated trafficking of the Menkes disease copper ATPase is associated with formation of a phosphorylated catalytic intermediate

21 January 2018

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X-linked recessive Menkes disease: identification of partial gene deletions in affected males.

21 January 2018

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X-linked recessive Menkes disease: carrier detection in the case of a partial gene deletion.

21 January 2018

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X-linked Menkes disease: first documented report of germ-line mosaicism.

21 January 2018

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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

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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

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Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome

21 January 2018

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Copper-replacement treatment for symptomatic Menkes disease: ethical considerations

21 January 2018

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Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.

21 January 2018

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Splice site mutations in the ATP7A gene.

21 January 2018

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

21 January 2018

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

21 January 2018

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Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.

21 January 2018

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Functional copper transport explains neurologic sparing in occipital horn syndrome

21 January 2018

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

21 January 2018

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Incidence of Menkes disease

21 January 2018

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Mutation spectrum of ATP7A, the gene defective in Menkes disease

21 January 2018

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Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease

21 January 2018

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Menkes disease: recent advances and new aspects

21 January 2018

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Clinical utility gene card for: Menkes disease

21 January 2018

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Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.

21 January 2018

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First trimester prenatal diagnosis of Menkes disease by DNA analysis.

21 January 2018

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

21 January 2018

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The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression

21 January 2018

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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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Clinical expression of Menkes disease in a girl with X;13 translocation

21 January 2018

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7 January 2021

X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization.

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7 January 2021

Two highly polymorphic CA repeats in the Menkes gene (ATP7A)

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7 January 2021

Genomic organization of the mottled gene, the mouse homologue of the human Menkes disease gene

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7 January 2021

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

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7 January 2021

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients

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7 January 2021

Intragenic deletions at Atp7a in mouse models for Menkes disease

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7 January 2021

Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice

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7 January 2021

Early development of occipital horns in a classical Menkes patient

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7 January 2021

Clinical expression of Menkes syndrome in females

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7 January 2021

Variability in clinical expression of Menkes syndrome

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7 January 2021

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

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7 January 2021

Early copper therapy in classic Menkes disease patients with a novel splicing mutation

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7 January 2021

Menkes syndrome in a girl with X-autosome translocation

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7 January 2021

Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with Menkes syndrome

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7 January 2021

A numerical investigation into possible mechanisms by that the A629P mutant of ATP7A causes Menkes Disease

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7 January 2021

Copper concentration of liver tissue under long-term copper-histidine therapy in a patient with Menkes disease

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7 January 2021

Are X-linked cutis laxa and Menkes disease allelic?

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population

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7 January 2021

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

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7 January 2021

Late-onset treatment in Menkes disease: is there a correlation between genotype and response to therapy?

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7 January 2021

Transient temporal lobe changes and a novel mutation in a patient with Menkes disease

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7 January 2021

Essential role for the Menkes ATPase in activation of extracellular superoxide dismutase: implication for vascular oxidative stress

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7 January 2021

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

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7 January 2021

Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease

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7 January 2021

Early copper-histidine treatment for Menkes disease

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7 January 2021

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7 January 2021

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2

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7 January 2021

Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

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7 January 2021

Identification of three novel mutations in Japanese patients with Menkes disease and mutation screening by denaturing high performance liquid chromatography

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7 January 2021

A novel deletion mutation of ATP7A gene in a Chinese family with Menkes disease

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7 January 2021

Identifiers

DOI

10.1002/HUMU.22266

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23281160%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference