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 MenkesDisease. 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 menkesdisease. 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 ...
沪公网安备号：31010402006960 （网站）31010405000484 （蝌蝌APP）
安全保密
