Results 51 to 60 of about 9,465 (268)

Copper metabolism of astrocytes [PDF]

, 2013
This short review will summarize the current knowledge on the uptake, storage and export of copper ions by astrocytes and will address the potential roles of astrocytes in copper homeostasis in the normal and diseased brain.
Dringen, Ralf, Mercer, Julian F.B., Scheiber, Ivo F.   +2 more
core   +2 more sources

Copper-transporting ATPase is important for malaria parasite fertility [PDF]

, 2013
Homeostasis of the trace element copper is essential to all eukaryotic life. Copper serves as a cofactor in metalloenzymes and catalyses electron transfer reactions as well as the generation of potentially toxic reactive oxygen species. Here, we describe
Kenthirapalan, Sanketha, Kooij, Taco W. A., Matuschewski, Kai, Waters, Andrew P.   +3 more
core   +2 more sources

Regulation of Atp7a RNA contributes to differentiation-dependent Cu redistribution in skeletal muscle cells

Metallomics, 2023
Cu (Cu) is essential for several biochemical pathways due to its role as a catalytic cofactor or allosteric regulator of enzymes. Its import and distribution are tightly controlled by transporters and metallochaperones and Cu homeostasis is maintained by
ThomasH . Whitlow, Yu Zhang, Nathan Ferguson, Alexandra M. Perez, Hemchandra Patel, Josephine A Link-Kemp, Ethan M Larson, Allison T. Mezzell, Vinit C. Shanbhag, M. Petris, Katherine E. Vest   +10 more
semanticscholar   +1 more source

Splice Site Mutations in the ATP7A Gene

PLoS ONE, 2011
Menkes disease (MD) is caused by mutations in the ATP7A gene. We describe 33 novel splice site mutations detected in patients with MD or the milder phenotypic form, Occipital Horn Syndrome. We review these 33 mutations together with 28 previously published splice site mutations.
Skjørringe, Tina, Tümer, Zeynep, Møller, Lisbeth Birk   +2 more
openaire   +5 more sources

Two highly polymorphic CA repeats in the Menkes gene (ATP7A) [PDF]

Human Genetics, 1995
Two highly polymorphic CA repeats have been identified in the Menkes gene (ATP7A). These repeats should be useful for prenatal diagnosis and carrier detection in families with Menkes disease and X-linked cutis laxa. The observed heterozygosity for these two repeats was 0.778 and 0.60 in Centre d'Etude du Polymorphisme Humaine (CEPH) families.
Glover, Thomas W., Innis, Jeffrey W., Dierick, Herman A., Begy, Catherine R.   +3 more
openaire   +3 more sources

Metal ions in macrophage antimicrobial pathways: emerging roles for zinc and copper [PDF]

, 2013
The immunomodulatory and antimicrobial properties of zinc and copper have long been appreciated. In addition, these metal ions are also essential for microbial growth and survival.
Achard, Achouiti, Alastair G. McEwan, Aller, Andreini, Aydemir, Aydemir, Babu, Bao, Beck, Beker Aydemir, Bertinato, Besecker, Besecker, Bhutta, Bianchini, Botella, Boyne, Brazao, Brough, Camakaris, Cho, Cobbold, Corbin, Cousins, Crocker, Danks, Das, De Domenico, Failla, Fleming, Fraker, Fraker, Gaetke, Goode, Gray, Guilbert, Gunn, Gutteridge, Haase, Haase, Haase, Halfdanarson, Harris, Hodgkinson, Hood, Houghton, Huang, Humphrey, Idaghdour, Inoue, Inoue, Jones, Jones, Ke, Kelleher, Kirschke, Kitamura, Klomp, Klotz, Knoell, Kong, Kreuder, Kushner, Lastra, Lawson, Lee, Leibbrandt, Lemire, Lichten, Linz, Liu, Liuzzi, Liuzzi, Long, Lukacik, Lutsenko, Lutsenko, Maggini, Maret, Mark A. Schembri, Matthew J. Sweet, Maud E. S. Achard, Mazumder, McDevitt, Mehta, Meyer, Mocchegiani, Nairz, Newberne, Nilesh J. Bokil, Nowak, Osaki, Osaki, Osman, Overbeck, Palmiter, Pase, Patel, Patro, Paynter, Percival, Petris, Petris, Petris, Potter, Powell, Prasad, Prasad, Prasad, Prasad, Prasad, Prasad, Prasad, Prasad, Prohaska, Ramadori, Rink, Ronan Kapetanovic, Ryu, Salvin, Samanovic, Sandstead, Sayadi, Schroder, Seing, Sian L. Stafford, Singh, Snyder, Sobocinski, Sohnle, Steiger, Takano, Tamura, Turanov, Uzzo, Valavi, van den Berghe, Veldhuis, Visse, von Bulow, Voskoboinik, Vulpe, Wagner, Wardlaw, West, White, Wilson, Winters, Wirth, Xu, Yang, Yang, Yasuno, Yu, Yuen, Zaitsev, Zhou, Zhou   +158 more
core   +3 more sources

Copper-transporting P-type adenosine triphosphatase (ATP7A) is associated with platinum-resistance in non-small cell lung cancer (NSCLC)

Journal of Translational Medicine, 2012
Background Copper export protein ATP7A is important for maintaining copper homeostasis. Recent studies have shown that copper transporters are also involved in the transport of platinum.
Li Zhuang-hua, Qiu Miao-zhen, Zeng Zhao-lei, Luo Hui-yan, Wu Wen-jing, Wang Feng, Wang Zhi-qiang, Zhang Dong-sheng, Li Yu-hong, Xu Rui-hua   +9 more
doaj   +1 more source

Menkes disease complicated by concurrent ACY1 deficiency: A case report

Frontiers in Genetics, 2023
Introduction: Menkes disease is an X‐linked recessive condition caused by mutations in the ATP7A gene, which leads to severe copper deficiency. Aminoacylase-1 deficiency is a rare inborn error of metabolism caused by homozygous or compound heterozygous ...
Alessia Mauri, Alessia Mauri, Laura Assunta Saielli, Enrico Alfei, Maria Iascone, Daniela Marchetti, Elisa Cattaneo, Anna Di Lauro, Laura Antonelli, Luisella Alberti, Eleonora Bonaventura, Pierangelo Veggiotti, Pierangelo Veggiotti, Luigina Spaccini, Cristina Cereda   +14 more
doaj   +1 more source

Magnesium and other biometals in oxidative medicine and redox biology [PDF]

, 2017
No abstract ...
Barbagallo, Mario, Kolisek, Martin, Romani, Andrea, Touyz, Rhian M.   +3 more
core   +3 more sources

Regulation of apico-basolateral trafficking polarity of homologous Copper-ATPases ATP7A and ATP7B

bioRxiv, 2023
We suggest a model of apico-basolateral sorting in polarized epithelia using homologous Cu-ATPases as membrane cargoes. In polarized epithelia, upon copper treatment, homologous copper-ATPases ATP7A and ATP7B traffic from trans-Golgi network (TGN) to ...
Ruturaj, M. Mishra, Soumyendu Saha, Saptarshi Maji, E. Rodriguez-Boulan, Ryan Schreiner, Arnab Gupta   +6 more
semanticscholar   +1 more source