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Relevant bibliographies by topics / Menkes disease; Copper transport

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Academic literature on the topic 'Menkes disease; Copper transport'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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Journal articles on the topic "Menkes disease; Copper transport"

1

Herd, S. M., J. Camakaris, R. Christofferson, P. Wookey, and D. M. Danks. "Uptake and efflux of copper-64 in Menkes'-disease and normal continuous lymphoid cell lines." Biochemical Journal 247, no. 2 (October 15, 1987): 341–47. http://dx.doi.org/10.1042/bj2470341.

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The accumulation of copper over 2 h by normal lymphoid cells and those from Menkes'-disease patients (Menkes' cells) was found to be biphasic, with an initial phase of rapid uptake, an approach to steady state at around 40-60 min, followed by a further accumulation phase. The accumulation of copper was not diminished by the addition of a variety of metabolic inhibitors, suggesting that copper uptake is not an active process. The presence of carbonyl cyanide m-chlorophenylhydrazone in the culture medium stimulated the uptake and accumulation of copper in both normal and Menkes' cells to the same absolute level. This effect appeared to be specific for copper, since the accumulation of Zn and Cd was unaffected. Menkes' cells did not differ from normal in their initial rate of copper uptake. Analysis of the uptake curve suggested that the membrane transport of copper involves both passive and facilitated diffusion. Initial rate of efflux from the cells was approximated by two methods. Menkes' cells did not appear to be affected in this function. It seems likely that the basic defect in Menkes' disease involves a step in intracellular copper transport rather than the membrane transport of copper.

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Agertt, Fabio, Ana C. S. Crippa, Paulo J. Lorenzoni, Rosana H. Scola, Isac Bruck, Luciano de Paola, Carlos E. Silvado, and Lineu C. Werneck. "Menkes' disease: case report." Arquivos de Neuro-Psiquiatria 65, no. 1 (March 2007): 157–60. http://dx.doi.org/10.1590/s0004-282x2007000100032.

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Menkes’ disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. The investigation disclosed pilli torti and thrycorrexis nodosa in the hair, low serum levels of both copper and ceruloplasmin, brain magnetic resonance study showed atrophy and white matter hypointensities on T1-weighted images, electroencephalogram reveals moderate background activity disorganization and epileptiform activity, and muscle biopsy with type 2 fiber atrophy. The clinical, laboratorial, genetic, muscle biopsy and neurophysiological findings in Menkes’ disease are discussed.

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Choudhary, Richa, Anita Choudhary, and S. Sitaraman. "Menkes Disease- A Rare Neurodegenerative Disorder." Journal of Nepal Paediatric Society 35, no. 2 (January 20, 2016): 177–80. http://dx.doi.org/10.3126/jnps.v35i2.11966.

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Menkes Disease is a rare neurological disorder of impaired copper transport, characterized by progressive neurodegeneration, refractory epilepsy and characteristic hair abnormalities. Here, we report a 5 month old child with developmental delay, refractory seizures, and hypopigmented short, sparse hair with microscopic pili torti; low serum copper and ceruloplasmin and neuroimaging revealing white matter hyperintensities and tortuous vessels.J Nepal Paediatr Soc 2015;35(2):177-180

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Qian, Y., E. Tiffany-Castiglioni, and E. D. Harris. "Functional analysis of a genetic defect of copper transport (Menkes disease) in different cell lines." American Journal of Physiology-Cell Physiology 271, no. 1 (July 1, 1996): C378—C384. http://dx.doi.org/10.1152/ajpcell.1996.271.1.c378.

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To define the function of the Cu-transporting ATPase in Menkes disease, Menkes and normal fibroblasts were incubated with 67Cu before and after brief exposure to -SH reagents, p-chloromercuribenzoate (PCMB) and dithiothreitol (DTT). Accumulation and retention were compared among these cells, BeWo cells, and rat C6 glioma cells similarly treated. The Michaelis constant for influx of 67Cu into normal and Menkes fibroblasts was practically the same (0.21 +/- 0.07 vs. 0.24 +/- 0.06 microM). The PCMB treatment stimulated 67Cu accumulation in C6 cells, inhibited accumulation in normal and Menkes fibroblasts, and did not affect BeWo cells. DTT stimulated 67Cu uptake in all cells but BeWo cells. DTT treatment after PCMB further enhanced 67Cu accumulation in normal fibroblasts and C6 cells but had no enhancing effect on Menkes fibroblasts or BeWo cells. Menkes fibroblasts and BeWo cells released 67Cu at rates considerably slower than normal fibroblasts (0.06 and 0.09 vs. 0.22%/min, respectively). The PCMB blocked 67Cu release from normal fibroblasts but did not affect Menkes fibroblasts or BeWo cells. Reverse transcription-polymerase chain reaction analysis of total RNA from BeWo cells failed to show a predicted 943-base pair fragment representing a partial transcript of the Menkes factor. The fragment was present in extracts from normal fibroblasts. We conclude that the mechanism underlying Cu homeostasis varies among different cell types. As exemplified by BeWo and Menkes cells, failure to efflux Cu ions may be linked with the failure to express a functional Cu-transporting ATPase, namely, the Menkes protein.

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ACKLAND, M. Leigh, E. Jean CORNISH, A. Jenny PAYNTER, Andrew GRIMES, Agnes MICHALCZYK, and F. B. Julian MERCER. "Expression of Menkes disease gene in mammary carcinoma cells." Biochemical Journal 328, no. 1 (November 15, 1997): 237–43. http://dx.doi.org/10.1042/bj3280237.

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Two P-type ATPases, MNK and WND were recently shown to be defective in the human disorders of copper transport, Menkes disease and Wilson disease respectively. These proteins are important in copper homeostasis but their full physiological function has not been established. This study uses the human breast carcinoma line, PMC42, to investigate copper transport in the mammary gland. Northern blot analysis indicated that both MNK and WND mRNA are expressed in these cells. Western blot analysis with an MNK-specific antibody demonstrated a band of approx. 178 kDa, close to the expected size of 163 kDa. Treatment of PMC42 cells with lactational hormones (oestrogen and progesterone for 3 days followed by dexamethasone, insulin and prolactin for a further 3 days) did not produce an obvious increase in MNK expression as measured by Northern and Western blots. By using indirect immunofluorescence with the MNK antibody, the intracellular distribution of MNK was found to be predominantly perinuclear, consistent with Golgi localization. Punctate staining was also seen in a smaller proportion of cells, suggesting that some MNK is associated with endosomes. Treatment of PMC42 cells with lactational hormones increased the intensity of the perinuclear and punctate fluorescence. Exposure of cells to 100 mM copper resulted in the dispersion of the fluorescence towards the periphery of the cell. The results suggest a role for MNK in the secretion of copper into milk and that PMC42 cells are a valuable model for investigating the detailed cellular function of MNK and WND.

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Kaler, Stephen G. "Metabolic and Molecular Bases of Menkes Disease and Occipital Horn Syndrome." Pediatric and Developmental Pathology 1, no. 1 (January 1998): 85–98. http://dx.doi.org/10.1007/s100249900011.

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Menkes disease and occipital horn syndrome (OHS) are related disorders of copper transport that involve abnormal neurodevelopment, connective tissue problems, and often premature death. Location of the gene responsible for these conditions on the X chromosome was indicated by pedigree analysis from the time of these syndromes' earliest descriptions. Characterization of an affected female with an X-autosomal translocation was used to identify the Menkes/OHS gene, which encodes a highly evolutionarily conserved, copper-transporting P-type ATPase. The gene normally is expressed in nearly all human tissues, and it localizes to the trans-Golgi network of cells. However, in over 70% of Menkes and OHS patients studied, expression of this gene has been demonstrated to be abnormal. Major gene deletions detectable by Southern blotting account for 15–20% of patients, and an interesting spectrum of other mutations is evident among 58 families whose precise molecular defects have been reported as of this writing. The center region of the gene seems particularly prone to mutation, and those that influence mRNA processing and splicing appear to be relatively common. Further advances in understanding the molecular and cell biological mechanisms involved in normal copper transport may ultimately yield new and better approaches to the management of these disorders.

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Waldrop, G. L., and M. J. Ettinger. "The relationship of excess copper accumulation by fibroblasts from the brindled mouse model of Menkes disease to the primary defect." Biochemical Journal 267, no. 2 (April 15, 1990): 417–22. http://dx.doi.org/10.1042/bj2670417.

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Fibroblasts from the brindled mouse model of Menkes disease are known to accumulate excess copper. Most of the copper in the cytosol of these fibroblasts is bound to metallothionein (MT), which is elevated in Menkes or brindled mouse fibroblasts. Copper accumulation by normal fibroblasts containing excess MT was examined to determine if the excess copper accumulation phenotype was secondary to excess MT or associated with the primary defect in fibroblasts from the brindled mice. MT was induced in normal fibroblasts by copper, zinc or dexamethasone to levels comparable with those in brindled mice fibroblasts, as determined by radioimmunoassays. Normal fibroblasts containing excess MT accumulate copper normally, i.e. they do not exhibit the excess copper accumulation phenotype. Consistent with this result, copper efflux from normal fibroblasts containing excess MT was also normal. The data suggest that one function of the protein associated with the primary defect is to help determine how much copper is taken up and retained by fibroblasts and other cell types exhibiting the excess copper phenotype in Menkes disease. The capacity of this protein is apparently exceeded in normal fibroblasts if serum or albumin is not present extracellularly to limit total copper uptake. Consistent with a defect in an intracellular protein, the kinetics of copper transport by brindled mice fibroblasts were found to be normal.

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DiDonato, Michael, and Bibudhendra Sarkar. "Copper transport and its alterations in Menkes and Wilson diseases." Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1360, no. 1 (February 1997): 3–16. http://dx.doi.org/10.1016/s0925-4439(96)00064-6.

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Fatemi, Negah, and Bibudhendra Sarkar. "Insights into the mechanism of copper transport by the Wilson and Menkes disease copper-transporting ATPases." Inorganica Chimica Acta 339 (November 2002): 179–87. http://dx.doi.org/10.1016/s0020-1693(02)00949-0.

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Gautam-Basak, M., J. F. Gallelli, and B. Sarkar. "Formulation of copper-histidine for the treatment of Menkes disease, a genetic disorder of copper transport." Journal of Inorganic Biochemistry 51, no. 1-2 (July 1993): 415. http://dx.doi.org/10.1016/0162-0134(93)85444-d.

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Dissertations / Theses on the topic "Menkes disease; Copper transport"

1

Cunliffe, Pamela. "Molecular genetic analysis of mottled mice." Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.301902.

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De, Vizcaya Ruiz Andrea M. G. "Distribution, toxicity and mode of action of the novel copper-based anticancer compound, casiopeina II." Thesis, University of Surrey, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.310720.

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Antypas, Elias J. "The characterization of Menkes copper transporter and dopamine ß- monooxygenase carboxy-terminus in neuroendocrine cells." Connect to full text in OhioLINK ETD Center, 2008. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=mco1213789670.

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Dissertation (Ph.D.)--University of Toledo, 2008.
"In partial fulfillment of the requirements for the degree of Doctor of Philosophy in Biomedical Sciences." Title from title page of PDF document. Bibliography: p. 126-146.

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Reed, Vivienne. "Molecular analysis of mottled mutants." Thesis, Oxford Brookes University, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.363726.

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Niemiec, Moritz Sebastian. "Human copper ion transfer : from metal chaperone to target transporter domain." Doctoral thesis, Umeå universitet, Kemiska institutionen, 2015. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-100511.

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Many processes in living systems occur through transient interactions among proteins. Those interactions are often weak and are driven by small changes in free energy. Due to the short-living nature of these interactions, our knowledge about driving forces, dynamics and structures of these types of protein-protein heterocomplexes are though limited. This is especially important for cellular copper (Cu) trafficking: Copper ions are essential for all eukaryotes and most bacteria. As a cofactor in many enzymes, copper is especially vital in respiration or detoxification. Since the same features that make copper useful also make it toxic, it needs to be controlled tightly. Additionally, in the reducing environment of the cytosol, Cu is present as insoluble Cu(I). To circumvent both toxicity and solubility issues, a system has evolved where copper is comforted by certain copper binding proteins, so-called Cu-chaperones. They transiently interact with each other to distribute the Cu atoms in a cell. In humans, one of them is Atox1. It binds copper with a binding site containing two thiol residues and transfers it to other binding sites, mostly those of a copper pump, ATP7B (also known as Wilsons disease protein). My work was aimed at understanding copper-mediated protein-protein interactions on a molecular and mechanistic level. Which amino acids interact with the metal? Which forces drive the transfer from one protein to the other? Using biophysical and biochemical methods such as chromatography and calorimetry on wild type and point-mutated proteins in vitro, we found that the copper is transferred via a dynamic intermediate complex that keeps the system flexible while shielding the copper against other interactions. Although similar transfer interactions can be observed in other organisms, and many conclusions in the copper field are drawn from bacterial and yeast analogs, we believe that it is important to investigate human proteins, too. Not only is their regulation different, but also only in humans we find the diseases linked to the proteins: Copper level regulation diseases are to be named first, but atypical copper levels have also been linked to tumors and amyloid dispositions. In summary, my observations and conclusions are of basic research character and can be of importance for both general copper and human medicinal research.

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Books on the topic "Menkes disease; Copper transport"

1

Trocello, Jean-Marc, and France Woimant. Disorders of Copper and Iron Metabolism. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0044.

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Both copper and iron are essential metals that have a critical function in a series of biochemical pathways. This chapter describes the disorders associated with genetic abnormalities in copper and iron metabolic pathways and their manifestations in adult patients. Mutations in the genes of the copper transporting P-type ATPases, ATP7A and ATP7B are associated with Wilson disease, Menkes disease, occipital horn syndrome and ATP7A-related distal motor neuropathy. Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterized by excess iron deposition in globus pallidus, substantia nigra pars reticulata, striata and cerebellar dentate nuclei. Several genes associated with NBIA have been identified.

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Book chapters on the topic "Menkes disease; Copper transport"

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Mercer, Julian F. B., Loreta Ambrosini, Sharon Horton, Sophie Gazeas, and Andrew Grimes. "Animal Models of Menkes Disease." In Copper Transport and Its Disorders, 97–108. Boston, MA: Springer US, 1999. http://dx.doi.org/10.1007/978-1-4615-4859-1_8.

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Petris, Michael J., Julian F. B. Mercer, and James Camakaris. "The Cell Biology of the Menkes Disease Protein." In Copper Transport and Its Disorders, 53–66. Boston, MA: Springer US, 1999. http://dx.doi.org/10.1007/978-1-4615-4859-1_5.

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Cox, Diane W., Zeynep Tümer, and Eve A. Roberts. "Copper Transport Disorders: Wilson Disease and Menkes Disease." In Inborn Metabolic Diseases, 384–91. Berlin, Heidelberg: Springer Berlin Heidelberg, 2000. http://dx.doi.org/10.1007/978-3-662-04285-4_33.

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Tümer, Zeynep, Lisbeth Birk Møller, and Nina Horn. "Mutation Spectrum of ATP7A, the Gene Defective in Menkes Disease." In Copper Transport and Its Disorders, 83–95. Boston, MA: Springer US, 1999. http://dx.doi.org/10.1007/978-1-4615-4859-1_7.

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Sarkar, B. "Menkes disease: a genetic defect of copper transport." In Copper and Zinc in Inflammatory and Degenerative Diseases, 179–87. Dordrecht: Springer Netherlands, 1998. http://dx.doi.org/10.1007/978-94-011-3963-2_13.

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Mercer, Julian F. B., and James Camakaris. "Menkes’ and Wilson’s Diseases: Genetic Disorders of Copper Transport." In Metal Ions in Gene Regulation, 250–76. Boston, MA: Springer US, 1998. http://dx.doi.org/10.1007/978-1-4615-5993-1_10.

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Danks, David M. "Genetic Disorders of Copper Transport: Menkes’ Disease, Occipital Horn Syndrome, and Wilson’s Disease." In Trace Elements in Clinical Medicine, 271–76. Tokyo: Springer Japan, 1990. http://dx.doi.org/10.1007/978-4-431-68120-5_36.

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Sarkar, Bibudhendra. "The Malfunctioning of Copper Transport in Wilson and Menkes Diseases." In Neurodegenerative Diseases and Metal Ions, 207–25. Chichester, UK: John Wiley & Sons, Ltd, 2006. http://dx.doi.org/10.1002/0470028114.ch9.

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9

Williams, Darryl M., John R. Clement, F. Scott Kennedy, and Harold Chen. "Cuprous Sebacate Treatment of Menkes’ Disease." In Biology of Copper Complexes, 175–84. Totowa, NJ: Humana Press, 1987. http://dx.doi.org/10.1007/978-1-4612-4584-1_14.

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Harris, Edward D., Manchi C. M. Reddy, Yongchang Qian, Evelyn Tiffany-Castiglioni, Sudeep Majumdar, and John Nelson. "Multiple Forms of the Menkes Cu-ATPase." In Copper Transport and Its Disorders, 39–51. Boston, MA: Springer US, 1999. http://dx.doi.org/10.1007/978-1-4615-4859-1_4.

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