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Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

"Molecular structure of the Menkes disease gene (ATP7A)."
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"Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein."
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Nat. Genet.3:14-19(1993) [PubMed] [Europe PMC] [Abstract]

"Isolation of a partial candidate gene for Menkes disease by positional cloning."
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"Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome."
Qi M. , Byers P.H.
Hum. Mol. Genet.7:465-469(1998) [PubMed] [Europe PMC] [Abstract]

"Evidence for a Menkes-like protein with a nuclear targeting sequence."
Reddy M.C. , Majumdar S. , Harris E.D.
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"Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network."
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Hum. Mol. Genet.6:409-416(1997) [PubMed] [Europe PMC] [Abstract]

"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."
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Hum. Mol. Genet.8:2107-2115(1999) [PubMed] [Europe PMC] [Abstract]

"A single PDZ domain protein interacts with the Menkes copper ATPase, ATP7A. A new protein implicated in copper homeostasis."
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"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
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"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
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"Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase."
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"Mutation spectrum of ATP7A, the gene defective in Menkes disease."
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Adv. Exp. Med. Biol.448:83-95(1999) [PubMed] [Europe PMC] [Abstract]

"Diverse mutations in patients with Menkes disease often lead to exon skipping."
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Am. J. Hum. Genet.55:883-889(1994) [PubMed] [Europe PMC] [Abstract]

"Identification of point mutations in 41 unrelated patients affected with Menkes disease."
Tuemer Z. , Lund C. , Tolshave J. , Vural B. , Toennesen T. , Horn N.
Am. J. Hum. Genet.60:63-71(1997) [PubMed] [Europe PMC] [Abstract]

"A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family."
Ronce N. , Moizard M.P. , Robb L. , Toutain A. , Villard L. , Moraine C.
Am. J. Hum. Genet.61:233-238(1997) [PubMed] [Europe PMC] [Abstract]

"Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease."
Ambrosini L. , Mercer J.F.B.
Hum. Mol. Genet.8:1547-1555(1999) [PubMed] [Europe PMC] [Abstract]

"Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease."
Ogawa A. , Yamamoto S. , Takayanagi M. , Kogo T. , Kanazawa M. , Kohno Y.
J. Hum. Genet.44:206-209(1999) [PubMed] [Europe PMC] [Abstract]

"A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease."
Dagenais S.L. , Adam A.N. , Innis J.W. , Glover T.W.
Am. J. Hum. Genet.69:420-427(2001) [PubMed] [Europe PMC] [Abstract]

"ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome."
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Am. J. Med. Genet.99:217-222(2001) [PubMed] [Europe PMC] [Abstract]

"Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis."
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Mol. Genet. Metab.73:86-90(2001) [PubMed] [Europe PMC] [Abstract]

"Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A."
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Hum. Mutat.26:84-93(2005) [PubMed] [Europe PMC] [Abstract]

"Functional copper transport explains neurologic sparing in occipital horn syndrome."
Tang J. , Robertson S. , Lem K.E. , Godwin S.C. , Kaler S.G.
Genet. Med.8:711-718(2006) [PubMed] [Europe PMC] [Abstract]

"Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy."
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Am. J. Hum. Genet.86:343-352(2010) [PubMed] [Europe PMC] [Abstract]

"The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation."
De Leon-Garcia G. , Santana A. , Villegas-Sepulveda N. , Perez-Gonzalez C. , Henrriquez-Esquiroz J.M. , De Leon-Garcia C. , Wong C. , Baeza I.
BMC Pediatr.12:150-150(2012) [PubMed] [Europe PMC] [Abstract]