A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation. (Q34148762)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12221109%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12221109%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

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4

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12 November 2019

author name string

Byung-Eun Kim

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12221109%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Kathryn Smith

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12221109%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Carisa K Meagher

series ordinal

3

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12 November 2019

language of work or name

English

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publication date

6 September 2002

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12221109%20AND%20SRC:MED&resulttype=core&format=json

Journal of Biological Chemistry

12 November 2019

published in

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12 November 2019

volume

277

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12 November 2019

issue

46

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12 November 2019

page(s)

44079-44084

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12 November 2019

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

Biochemical characterization and intracellular localization of the Menkes disease protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

The Menkes copper transporter is required for the activation of tyrosinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

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/10.1074%2FJBC.M208737200

Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

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/10.1074%2FJBC.M208737200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

Characterization of the Menkes protein copper-binding domains and their role in copper-induced protein relocalization

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial hyperinsulinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

Copper-dependent trafficking of Wilson disease mutant ATP7B proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

The Lys1010-Lys1325 fragment of the Wilson's disease protein binds nucleotides and interacts with the N-terminal domain of this protein in a copper-dependent manner

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

Correction of Defective Protein Kinesis of Human P-glycoprotein Mutants by Substrates and Modulators

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M208737200

21 January 2018

Identifiers

DOI

10.1074/JBC.M208737200

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12221109%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference