The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression (Q28117183)

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

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scholarly article

1 reference

4 January 2017

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

1 reference

4 January 2017

0 references

1 reference

based on heuristic

inferred from title

7

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author name string

Willianne I. M. Vonk

1

1 reference

4 January 2017

Prim de Bie

2

1 reference

4 January 2017

Catharina G. K. Wichers

3

1 reference

4 January 2017

Peter V. E. van den Berghe

4

1 reference

4 January 2017

Rozemarijn van der Plaats

5

1 reference

4 January 2017

Ruud Berger

6

1 reference

4 January 2017

Leo W. J. Klomp

8

1 reference

4 January 2017

Bart van de Sluis

9

1 reference

4 January 2017

publication date

1 January 2012

1 reference

4 January 2017

Cellular and Molecular Life Sciences

1 reference

4 January 2017

69

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4 January 2017

1

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4 January 2017

149–163

1 reference

4 January 2017

A novel role for XIAP in copper homeostasis through regulation of MURR1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

20 March 2017

Characterization of COMMD protein-protein interactions in NF-kappaB signalling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

20 March 2017

COMMD1 promotes the ubiquitination of NF-kappaB subunits through a cullin-containing ubiquitin ligase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

20 March 2017

Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

20 March 2017

Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

20 March 2017

Human copper transporter 2 is localized in late endosomes and lysosomes and facilitates cellular copper uptake

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

20 March 2017

Diverse mutations in patients with Menkes disease often lead to exon skipping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

20 March 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

20 March 2017

The ubiquitously expressed MURR1 protein is absent in canine copper toxicosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

20 March 2017

Mutation spectrum of ATP7A, the gene defective in Menkes disease

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

20 March 2017

https://api.crossref.org/works/10.1007%2FS00018-011-0743-1

21 January 2018

Increased activity of hypoxia-inducible factor 1 is associated with early embryonic lethality in Commd1 null mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

20 March 2017

COMMD1 disrupts HIF-1alpha/beta dimerization and inhibits human tumor cell invasion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

29 September 2017

Nucleolar targeting of RelA(p65) is regulated by COMMD1-dependent ubiquitination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

29 September 2017

Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

29 September 2017

Mammalian copper-transporting P-type ATPases, ATP7A and ATP7B: emerging roles.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

29 September 2017

COMMD1 Promotes pVHL and O2-Independent Proteolysis of HIF-1alpha via HSP90/70.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

29 September 2017

Molecular diagnosis of Menkes disease: genotype-phenotype correlation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

29 September 2017

COMMD1 expression is controlled by critical residues that determine XIAP binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

29 September 2017

Intestinal regulation of copper homeostasis: a developmental perspective

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

29 September 2017

Chemical and biological folding contribute to temperature-sensitive DeltaF508 CFTR trafficking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

29 September 2017

Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

29 September 2017

Functional copper transport explains neurologic sparing in occipital horn syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

29 September 2017

A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

29 September 2017

Induction of nuclear factor kappaB by the CD30 receptor is mediated by TRAF1 and TRAF2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

29 September 2017

Copper biochemistry and molecular biology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

29 September 2017

Cu,Zn superoxide dismutase maturation and activity are regulated by COMMD1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

2 June 2018

Structure-function analysis of purified Enterococcus hirae CopB copper ATPase: effect of Menkes/Wilson disease mutation homologues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

2 June 2018

A Golgi localization signal identified in the Menkes recombinant protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

2 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249196

2 June 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0743-1

21 January 2018

Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0743-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0743-1

21 January 2018

COMMD1: a novel protein involved in the proteolysis of proteins.

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0743-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0743-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0743-1

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21667063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variability in clinical expression of Menkes syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21667063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21667063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21667063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/21667063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00018-011-0743-1

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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