Menkes disease

被引：94

作者：

Bertini, I. ^{[1
,2
]}

Rosato, A. ^{[1
,2
]}

机构：

[1] Univ Florence, CERM, I-50019 Sesto Fiorentino, Italy

[2] Univ Florence, Dept Chem, I-50019 Sesto Fiorentino, Italy

来源：

CELLULAR AND MOLECULAR LIFE SCIENCES | 2008年 / 65卷 / 01期

关键词：

Menkes disease; ATP7A; copper trafficking and translocation; mutation;

D O I：

10.1007/s00018-007-7439-6

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Menkes disease is caused by mutations in the copper-transporting P-1B-type ATPase ATP7A. ATP7A has a dual function: it serves to incorporate copper into copper-dependent enzymes, and it maintains intracellular copper levels by removing excess copper from the cytosol. To accomplish both functions, the protein traffics between different cellular locations depending on copper levels.The mechanism for sensing the concentration of copper, for trafficking, as well as the details of the mechanism of copper translocation across the membrane are unknown.

引用

页码：89 / 91

页数：3

共 26 条

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[2] An atomic-level investigation of the disease-causing A629P mutant of the Menkes protein, ATP7A [J].

Banci, L ;

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Rosato, A ;

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JOURNAL OF MOLECULAR BIOLOGY, 2005, 352 (02) :409-417

[3] An NMR study of the interaction between the human copper(I) chaperone and the second and fifth metal-binding domains of the Menkes protein [J].

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[4] The different intermolecular interactions of the soluble copper-binding domains of the Menkes protein, ATP7A [J].

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JOURNAL OF BIOLOGICAL CHEMISTRY, 2007, 282 (32) :23140-23146

[5] Effects of copper supplementation on copper absorption, tissue distribution, and copper transporter expression in an infant rat model [J].

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AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY, 2005, 288 (05) :G1007-G1014

[6] THE WILSON DISEASE GENE IS A PUTATIVE COPPER TRANSPORTING P-TYPE ATPASE SIMILAR TO THE MENKES GENE [J].

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[7] Copper binding to the hl-terminal metal-binding sites or the CPC motif is not essential for copper-induced trafficking of the human Wilson protein (ATP7B) [J].

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BIOCHEMICAL JOURNAL, 2007, 401 :143-153

[8] ISOLATION OF A CANDIDATE GENE FOR MENKES DISEASE THAT ENCODES A POTENTIAL HEAVY-METAL BINDING-PROTEIN [J].

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TUMER, Z ;

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NATURE GENETICS, 1993, 3 (01) :14-19

[9] Essential role for Atox1 in the copper-mediated intracellular trafficking of the Menkes ATPase [J].

Hamza, I ;

Prohaska, J ;

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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2003, 100 (03) :1215-1220

[10]

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