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D Kramer, R Llanos… - Metal ions and neurodegenerative …, 2011 - deakin.edu.au
Eukaryotic cells prevent copper-induced, free radical damage to cell components by employing
copper-binding proteins and transporters that minimize the likelihood of free copper ions existing
in the cell. In the cell, copper is actively transported from the cytoplasm during the ...
Cited by 3 - Related articles - Cached - All 3 versions
WIM Vonk, P de Bie, CGK Wichers… - Cellular and Molecular …, 2011 - Springer
Abstract Menkes disease (MD) is an X-linked recessive disorder characterized by copper deficiency
resulting in a diminished function of copper-dependent enzymes. Most MD patients die in early
childhood, although mild forms of MD have also been described. A diversity of mutations ...
Related articles - All 2 versions
Z Tümer, L Klomp - European Journal of Human Genetics, 2011 - nature.com
Even though, in general, males are affected and heterozygous females are non-symptomatic
carriers, owing to skewed X-chromosome inactivation, few affected females with chromosome
aberrations, mainly translocations, have been reported. In case of a symptomatic female ...
Related articles - All 3 versions
[HTML] from nih.govYH Kim, R Lee, HW Yoo, MS Yum… - Journal of Korean …, 2011 - ncbi.nlm.nih.gov
... Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease.
Yong Hyuk Kim, 1 Ran Lee, 1 Han Wook Yoo, 2 Mi-Sun Yum, 2 Sun Hwan Bae, 1 So Chung
Chung, 1 Yong Mean Park, 1 and Jae Sung Son 1. ... of menkes disease. Pediatr Int. ...
Related articles - All 9 versions
A Donsante, L Yi, PM Zerfas, LR Brinster… - Molecular …, 2011 - nature.com
Menkes disease is a lethal infantile neurodegenerative disorder of copper metabolism caused
by mutations in a P-type ATPase, ATP7A. Currently available treatment (daily subcutaneous
copper injections) is not entirely effective in the majority of affected individuals. The ...

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