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Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

American journal of human genetics, 2010-03, Vol.86 (3), p.343-352

2010

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Copper comes of age in Melbourne

Metallomics, 2016-09, Vol.8 (9), p.816-823

2016

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Trafficking of the copper-ATPases, ATP7A and ATP7B: Role in copper homeostasis

Archives of biochemistry and biophysics, 2007-07, Vol.463 (2), p.149-167

2007

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Clusterin and COMMD1 Independently Regulate Degradation of the Mammalian Copper ATPases ATP7A and ATP7B

The Journal of biological chemistry, 2012-01, Vol.287 (4), p.2485-2499

2012

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

Nature genetics, 1993-01, Vol.3 (1), p.20-25

1993

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Clusterin (Apolipoprotein J), a Molecular Chaperone That Facilitates Degradation of the Copper-ATPases ATP7A and ATP7B

The Journal of biological chemistry, 2011-03, Vol.286 (12), p.10073-10083

2011

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Molecular and Cellular Aspects of Copper Transport in Developing Mammals

The Journal of nutrition, 2003-05, Vol.133 (5), p.1481S-1484S

2003

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Defective Copper-Induced Trafficking and Localization of the Menkes Protein in Patients With Mild and Copper-Treated Classical Menkes Disease

Human molecular genetics, 1999-08, Vol.8 (8), p.1547-1555

1999

Volltextzugriff (PDF)

Copper in disorders with neurological symptoms: Alzheimer’s, Menkes, and Wilson diseases

Brain research bulletin, 2001-05, Vol.55 (2), p.175-185

2001

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The molecular basis of copper homeostasis copper-related disorders

DNA and cell biology, 2002-04, Vol.21 (4), p.259

2002

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Menkes syndrome and animal models

The American journal of clinical nutrition, 1998-05, Vol.67 (5), p.1022S-1028S

Mercer, JF

1998

Volltextzugriff (PDF)

A single PDZ domain protein interacts with the Menkes copper ATPase, ATP7A. A new protein implicated in copper homeostasis

The Journal of biological chemistry, 2005-09, Vol.280 (39), p.33270

2005

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Mutation spectrum of ATP7A, the gene defective in Menkes disease

Advances in experimental medicine and biology, 1999, Vol.448, p.83

1999

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Correction of the Copper Transport Defect of Menkes Patient Fibroblasts by Expression of the Menkes and Wilson ATPases

The Journal of biological chemistry, 1998-11, Vol.273 (47), p.31375-31380

1998

Volltextzugriff (PDF)

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

Biochimica et biophysica acta, 2006-04, Vol.1762 (4), p.485-493

2006

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Functional Analysis and Intracellular Localization of the Human Menkes Protein (MNK) Stably Expressed from a cDNA Construct in Chinese Hamster Ovary Cells (CHO-K1)

Human molecular genetics, 1998-08, Vol.7 (8), p.1293-1300

1998

Volltextzugriff (PDF)

Molecular Basis of the Brindled Mouse Mutant (Mobr): A Murine Model of Menkes Disease

Human molecular genetics, 1997-07, Vol.6 (7), p.1037-1042

1997

Volltextzugriff (PDF)

Intracellular Localization and Loss of Copper Responsiveness of Mnk, the Murine Homologue of the Menkes Protein, in Cells from Blotchy (Moblo) and Brindled (Mobr) Mouse Mutants

Human molecular genetics, 1999-06, Vol.8 (6), p.1069-1075

1999

Volltextzugriff (PDF)

Multiple forms of the Menkes Cu-ATPase

Advances in experimental medicine and biology, 1999, Vol.448, p.39

1999

Volltextzugriff (PDF)

Expression of Menkes disease gene in mammary carcinoma cells

Biochemical journal, 1997-11, Vol.328 ( Pt 1) (1), p.237-243

1997

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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

Human molecular genetics, 1999-10, Vol.8 (11), p.2107-2115

1999

Volltextzugriff (PDF)

Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase

Human molecular genetics, 2001-02, Vol.10 (4), p.361-370

2001

Volltextzugriff (PDF)

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

Nature genetics, 1994-04, Vol.6 (4), p.374-378

1994

Volltextzugriff (PDF)

Molecular Structure of the Menkes Disease Gene ( ATP7A)

Genomics (San Diego, Calif.), 1995-08, Vol.28 (3), p.462-469

1995

Volltextzugriff (PDF)

Analysis of the distribution of Cu, Fe and Zn and other elements in brindled mouse kidney using a scanning proton microprobe

Journal of inorganic biochemistry, 1998-09, Vol.71 (3), p.189-197

1998

Volltextzugriff (PDF)

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Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

Copper comes of age in Melbourne

Trafficking of the copper-ATPases, ATP7A and ATP7B: Role in copper homeostasis

Clusterin and COMMD1 Independently Regulate Degradation of the Mammalian Copper ATPases ATP7A and ATP7B

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

Clusterin (Apolipoprotein J), a Molecular Chaperone That Facilitates Degradation of the Copper-ATPases ATP7A and ATP7B

Molecular and Cellular Aspects of Copper Transport in Developing Mammals

Defective Copper-Induced Trafficking and Localization of the Menkes Protein in Patients With Mild and Copper-Treated Classical Menkes Disease

Copper in disorders with neurological symptoms: Alzheimer’s, Menkes, and Wilson diseases

The molecular basis of copper homeostasis copper-related disorders

Menkes syndrome and animal models

A single PDZ domain protein interacts with the Menkes copper ATPase, ATP7A. A new protein implicated in copper homeostasis

Mutation spectrum of ATP7A, the gene defective in Menkes disease

Correction of the Copper Transport Defect of Menkes Patient Fibroblasts by Expression of the Menkes and Wilson ATPases

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

Functional Analysis and Intracellular Localization of the Human Menkes Protein (MNK) Stably Expressed from a cDNA Construct in Chinese Hamster Ovary Cells (CHO-K1)

Molecular Basis of the Brindled Mouse Mutant (Mobr): A Murine Model of Menkes Disease

Intracellular Localization and Loss of Copper Responsiveness of Mnk, the Murine Homologue of the Menkes Protein, in Cells from Blotchy (Moblo) and Brindled (Mobr) Mouse Mutants

Multiple forms of the Menkes Cu-ATPase

Expression of Menkes disease gene in mammary carcinoma cells

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

Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase

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

Molecular Structure of the Menkes Disease Gene ( ATP7A)

Analysis of the distribution of Cu, Fe and Zn and other elements in brindled mouse kidney using a scanning proton microprobe

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