Tumer Z, Moller LB. Menkes disease. Eur J Hum Genet. 2010 May. 18(5):511-8. [QxMD MEDLINE Link]. [Full Text].
Hardman B, Michalczyk A, Greenough M, et al. Hormonal regulation of the Menkes and Wilson copper-transporting ATPases in human placental Jeg-3 cells. Biochem J. 2007 Mar 1. 402(2):241-50. [QxMD MEDLINE Link].
Niciu MJ, Ma XM, El Meskini R, et al. Developmental changes in the expression of ATP7A during a critical period in postnatal neurodevelopment. Neuroscience. 2006. 139(3):947-64. [QxMD MEDLINE Link].
Schlief ML, West T, Craig AM, et al. Role of the Menkes copper-transporting ATPase in NMDA receptor-mediated neuronal toxicity. Proc Natl Acad Sci U S A. 2006 Oct 3. 103(40):14919-24. [QxMD MEDLINE Link].
Linnebank M, Lutz H, Jarre E, et al. Binding of copper is a mechanism of homocysteine toxicity leading to COX deficiency and apoptosis in primary neurons, PC12 and SHSY-5Y cells. Neurobiol Dis. 2006 Sep. 23(3):725-30. [QxMD MEDLINE Link].
Moller LB, Tumer Z, Lund C, et al. Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. Am J Hum Genet. 2000 Apr. 66(4):1211-20. [QxMD MEDLINE Link].
Tang J, Donsante A, Desai V, Patronas N, Kaler SG. Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R. Mol Genet Metab. 2008 Nov. 95(3):174-81. [QxMD MEDLINE Link].
Gu YH, Kodama H, Shiga K, Nakata S, Yanagawa Y, Ozawa H. A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis. J Inherit Metab Dis. 2005. 28 (4):473-8. [QxMD MEDLINE Link].
Kaler SG, Holmes CS, Goldstein DS, et al. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med. 2008 Feb 7. 358(6):605-14. [QxMD MEDLINE Link].
Paulsen M, Lund C, Akram Z, Winther JR, Horn N, Moller LB. Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites. Am J Hum Genet. 2006 Aug. 79(2):214-29. [QxMD MEDLINE Link].
Donsante A, Tang J, Godwin SC, et al. Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. J Med Genet. 2007 Aug. 44(8):492-7. [QxMD MEDLINE Link].
Tümer Z, Petris M, Zhu S, Mercer J, Bukrinski J, Bilz S, et al. A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment. Clin Genet. 2017 Nov. 92 (5):548-553. [QxMD MEDLINE Link].
Bahi-Buisson N, Kaminska A, Nabbout R, et al. Epilepsy in Menkes disease: analysis of clinical stages. Epilepsia. 2006 Feb. 47(2):380-6. [QxMD MEDLINE Link].
Prasad AN, Levin S, Rupar CA, Prasad C. Menkes disease and infantile epilepsy. Brain Dev. 2011 Nov. 33(10):866-76. [QxMD MEDLINE Link].
Yi L, Kaler SG. Interaction between the AAA ATPase p97/VCP and a concealed UBX domain in the copper transporter ATP7A is associated with motor neuron degeneration. J Biol Chem. 2018 May 18. 293 (20):7606-7617. [QxMD MEDLINE Link].
Peng CH, Hsu CH, Wang NL, Lee HC, Lin SP, Chan WT, et al. Spontaneous retroperitoneal hemorrhage in Menkes disease: A rare case report. Medicine (Baltimore). 2018 Feb. 97 (6):e9869. [QxMD MEDLINE Link].
Lorincz MT. Wilson disease and related copper disorders. Handb Clin Neurol. 2018. 147:279-292. [QxMD MEDLINE Link].
Matsuo M, Tasaki R, Kodama H, Hamasaki Y. Screening for Menkes disease using the urine HVA/VMA ratio. J Inherit Metab Dis. 2005. 28(1):89-93. [QxMD MEDLINE Link].
Lee ES, Ryoo JW, Choi DS, Cho JM, Kwon SH, Shin HS. Diffusion-weighted MR imaging of unusual white matter lesion in a patient with Menkes disease. Korean J Radiol. 2007 Jan-Feb. 8(1):82-5. [QxMD MEDLINE Link]. [Full Text].
Geller TJ, Pan Y, Martin DS. Early neuroradiologic evidence of degeneration in Menkes' disease. Pediatr Neurol. 1997 Oct. 17(3):255-8. [QxMD MEDLINE Link].
Sheela SR, Latha M, Liu P, et al. Copper-replacement treatment for symptomatic Menkes disease: ethical considerations. Clin Genet. 2005 Sep. 68(3):278-83. [QxMD MEDLINE Link].
Adaletli I, Omeroglu A, Kurugoglu S, Elicevik M, Cantasdemir M, Numan F. Lumbar and iliac artery aneurysms in Menkes' disease: endovascular cover stent treatment of the lumbar artery aneurysm. Pediatr Radiol. 2005 Oct. 35(10):1006-9. [QxMD MEDLINE Link].
Ambrosini L, Mercer JF. Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. Hum Mol Genet. 1999 Aug. 8(8):1547-55. [QxMD MEDLINE Link].
Aoki T. Wilson's disease and Menkes disease. Pediatr Int. 1999 Aug. 41(4):403-4. [QxMD MEDLINE Link].
Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S. The copper-transporting ATPases, Menkes and Wilson disease proteins, have distinct roles in adult and developing cerebellum. J Biol Chem. 2005 Mar 11. 280(10):9640-5. [QxMD MEDLINE Link].
Borm B, Moller LB, Hausser I, et al. Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family. J Pediatr. 2004 Jul. 145(1):119-21. [QxMD MEDLINE Link].
Ferreira RC, Heckenlively JR, Menkes JH, Bateman JB. Menkes disease. New ocular and electroretinographic findings. Ophthalmology. 1998 Jun. 105(6):1076-8. [QxMD MEDLINE Link].
Gasch AT, Kaler SG, Kaiser-Kupfer M. Menkes disease. Ophthalmology. 1999 Mar. 106(3):442-3. [QxMD MEDLINE Link].
Gerard-Blanluet M, Birk-Moller L, Caubel I, et al. Early development of occipital horns in a classical Menkes patient. Am J Med Genet A. 2004 Oct 1. 130(2):211-3. [QxMD MEDLINE Link].
Godwin SC, Shawker T, Chang B, Kaler SG. Brachial artery aneurysms in Menkes disease. J Pediatr. 2006 Sep. 149(3):412-5. [QxMD MEDLINE Link].
Goodyer ID, Jones EE, Monaco AP, Francis MJ. Characterization of the Menkes protein copper-binding domains and their role in copper-induced protein relocalization. Hum Mol Genet. 1999 Aug. 8(8):1473-8. [QxMD MEDLINE Link].
Grange DK, Kaler SG, Albers GM, et al. Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes disease. Am J Med Genet A. 2005 Dec 1. 139(2):151-5. [QxMD MEDLINE Link].
Gu YH, Kodama H, Shiga K, et al. A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis. J Inherit Metab Dis. 2005. 28(4):473-8. [QxMD MEDLINE Link].
Hsi G, Cox DW. A comparison of the mutation spectra of Menkes disease and Wilson disease. Hum Genet. 2004 Jan. 114(2):165-72. [QxMD MEDLINE Link].
Kaler SG. Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol. 1998 Jan-Feb. 1(1):85-98. [QxMD MEDLINE Link].
Kim BE, Smith K, Petris MJ. A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase. J Med Genet. 2003 Apr. 40(4):290-5. [QxMD MEDLINE Link].
Kim OH, Suh JH. Intracranial and extracranial MR angiography in Menkes disease. Pediatr Radiol. 1997 Oct. 27(10):782-4. [QxMD MEDLINE Link].
Kodama H, Gu YH, Mizunuma M. Drug targets in Menkes disease - prospective developments. Expert Opin Ther Targets. 2001 Oct. 5(5):625-635. [QxMD MEDLINE Link].
Kodama H, Murata Y. Molecular genetics and pathophysiology of Menkes disease. Pediatr Int. 1999 Aug. 41(4):430-5. [QxMD MEDLINE Link].
Kodama H, Murata Y, Kobayashi M. Clinical manifestations and treatment of Menkes disease and its variants. Pediatr Int. 1999 Aug. 41(4):423-9. [QxMD MEDLINE Link].
Kodama H, Sato E, Yanagawa Y, et al. Biochemical indicator for evaluation of connective tissue abnormalities in Menkes' disease. J Pediatr. 2003 Jun. 142(6):726-8. [QxMD MEDLINE Link].
Krajacic P, Qian Y, Hahn P, et al. Retinal localization and copper-dependent relocalization of the Wilson and Menkes disease proteins. Invest Ophthalmol Vis Sci. 2006 Jul. 47(7):3129-34. [QxMD MEDLINE Link].
Lane C, Petris MJ, Benmerah A, et al. Studies on endocytic mechanisms of the Menkes copper-translocating P-type ATPase (ATP7A; MNK). Endocytosis of the Menkes protein. Biometals. 2004 Feb. 17(1):87-98. [QxMD MEDLINE Link].
Mandelstam SA, Fisher R. Menkes disease: a rare cause of bilateral inguinal hernias. Australas Radiol. 2005 Apr. 49(2):192-5. [QxMD MEDLINE Link].
Menkes JH. Menkes disease and Wilson disease: two sides of the same copper coin. Part I: Menkes disease. Eur J Paediatr Neurol. 1999. 3(4):147-58. [QxMD MEDLINE Link].
Mercer JF, Ambrosini L, Horton S, et al. Animal models of Menkes disease. Adv Exp Med Biol. 1999. 448:97-108. [QxMD MEDLINE Link].
Munakata M, Sakamoto O, Kitamura T, et al. The effects of copper-histidine therapy on brain metabolism in a patient with Menkes disease: a proton magnetic resonance spectroscopic study. Brain Dev. 2005 Jun. 27(4):297-300. [QxMD MEDLINE Link].
Muz' NI, Matvienko AV. [Local injection of fraxiparine for the treatment of the lower extremity trophic ulcer]. Klin Khir. 2002 Nov-Dec. 51-2. [QxMD MEDLINE Link].
Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 309400. [Full Text].
Pedespan JM, Jouaville LS, Cances C, et al. Menkes disease: study of the mitochondrial respiratory chain in three cases. Eur J Paediatr Neurol. 1999. 3(4):167-70. [QxMD MEDLINE Link].
Petris MJ, Mercer JF. The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal. Hum Mol Genet. 1999 Oct. 8(11):2107-15. [QxMD MEDLINE Link].
Petris MJ, Mercer JF, Camakaris J. The cell biology of the Menkes disease protein. Adv Exp Med Biol. 1999. 448:53-66. [QxMD MEDLINE Link].
Poulsen L, Moller LB, Plunkett K, et al. X-linked Menkes disease: first documented report of germ-line mosaicism. Genet Test. 2004. 8(3):286-91. [QxMD MEDLINE Link].
Sasaki G, Ishii T, Sato S, et al. Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy. Eur J Pediatr. 2004 Dec. 163(12):745-6. [QxMD MEDLINE Link].
Suzuki M, Gitlin JD. Intracellular localization of the Menkes and Wilson's disease proteins and their role in intracellular copper transport. Pediatr Int. 1999 Aug. 41(4):436-42. [QxMD MEDLINE Link].
Tang J, Robertson S, Lem KE, et al. Functional copper transport explains neurologic sparing in occipital horn syndrome. Genet Med. 2006 Nov. 8(11):711-8. [QxMD MEDLINE Link].
Tumer Z, Birk Moller L, Horn N. Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A. Hum Mutat. 2003 Dec. 22(6):457-64. [QxMD MEDLINE Link].
Tumer Z, Moller LB, Horn N. Mutation spectrum of ATP7A, the gene defective in Menkes disease. Adv Exp Med Biol. 1999. 448:83-95. [QxMD MEDLINE Link].
Waggoner DJ, Bartnikas TB, Gitlin JD. The role of copper in neurodegenerative disease. Neurobiol Dis. 1999 Aug. 6(4):221-30. [QxMD MEDLINE Link].
Zaffanello M, Fanos V. Rare urological abnormalities in 2 cases of Menkes' syndrome. J Urol. 2003 Oct. 170(4 Pt 1):1335. [QxMD MEDLINE Link].
Gu YH, Kodama H, Ogawa E, Izumi Y. Lactate and pyruvate levels in blood and cerebrospinal fluid in patients with Menkes disease. J Pediatr. 2014 Apr. 164(4):890-4. [QxMD MEDLINE Link].