Functional copper transport explains neurologic sparing in occipital horn syndrome (Q34582025)

3 August 2017

Functional copper transport explains neurologic sparing in occipital horn syndrome (English)

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3 August 2017

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occipital horn syndrome

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Stephen Robertson

2

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author name string

Jingrong Tang

1

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3 August 2017

Kristen E Lem

3

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3 August 2017

Sarah C Godwin

4

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3 August 2017

Stephen G Kaler

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3 August 2017

language of work or name

English

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publication date

1 November 2006

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3 August 2017

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3 August 2017

8

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3 August 2017

711-718

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3 August 2017

11

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https://scigraph.springernature.com/pub.10.1097/01.gim.0000245578.94312.1e

3 August 2017

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cites work

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

21 January 2018

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

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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Copper-induced apical trafficking of ATP7B in polarized hepatoma cells provides a mechanism for biliary copper excretion

21 January 2018

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The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene

21 January 2018

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Spectrum of EEG findings in Menkes disease.

21 January 2018

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Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder.

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

1 reference

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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

1 reference

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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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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 structure of the Menkes disease gene (ATP7A)

21 January 2018

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

21 January 2018

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Rapid and robust screening of the Menkes disease/occipital horn syndrome gene.

21 January 2018

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Sequence, mapping and disruption of CCC2, a gene that cross-complements the Ca(2+)-sensitive phenotype of csg1 mutants and encodes a P-type ATPase belonging to the Cu(2+)-ATPase subfamily.

21 January 2018

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Functional characterization of the S. cerevisiae genome by gene deletion and parallel analysis

21 January 2018

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Complementation of Saccharomyces cerevisiae ccc2 mutant by a putative P1B-ATPase from Brassica napus supports a copper-transporting function

21 January 2018

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The FET3 gene of S. cerevisiae encodes a multicopper oxidase required for ferrous iron uptake

21 January 2018

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The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake

21 January 2018

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Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae

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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Caenorhabditis elegans cDNA for a Menkes/Wilson disease gene homologue and its function in a yeast CCC2 gene deletion mutant.

21 January 2018

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Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?

21 January 2018

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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.

21 January 2018

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X-inactivation patterns in carriers of X-linked myotubular myopathy.

21 January 2018

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The dynamics of X-inactivation skewing as women age.

21 January 2018

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21 January 2018

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10.1097/01.GIM.0000245578.94312.1E

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

3 August 2017

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1 reference