{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T08:53:16Z","timestamp":1783587196733,"version":"3.55.0"},"reference-count":50,"publisher":"Oxford University Press (OUP)","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,4,15]]},"DOI":"10.1093\/hmg\/ddr612","type":"journal-article","created":{"date-parts":[[2011,12,31]],"date-time":"2011-12-31T02:50:10Z","timestamp":1325299810000},"page":"1794-1807","source":"Crossref","is-referenced-by-count":48,"title":["Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy"],"prefix":"10.1093","volume":"21","author":[{"given":"Ling","family":"Yi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Donsante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina L.","family":"Kennerson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian F.B.","family":"Mercer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James Y.","family":"Garbern","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen G.","family":"Kaler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2011,12,30]]},"reference":[{"key":"key\n\t\t\t\t20170522132449_DDR612C1","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/nrneurol.2010.180","article-title":"ATP7A-related copper transport diseases-emerging concepts and future trends","volume":"7","author":"Kaler","year":"2011","journal-title":"Nat. Rev. Neurol."},{"key":"key\n\t\t\t\t20170522132449_DDR612C2","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.ajhg.2010.01.027","article-title":"Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy","volume":"86","author":"Kennerson","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522132449_DDR612C3","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/ng1094-195","article-title":"Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus","volume":"8","author":"Kaler","year":"1994","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522132449_DDR612C4","doi-asserted-by":"crossref","first-page":"6084","DOI":"10.1002\/j.1460-2075.1996.tb00997.x","article-title":"Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking","volume":"15","author":"Petris","year":"1996","journal-title":"EMBO J."},{"key":"key\n\t\t\t\t20170522132449_DDR612C5","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1023\/A:1024413631537","article-title":"Studies on endocytic mechanisms of the Menkes copper-translocating P-type ATPase (ATP7A; MNK). Endocytosis of the Menkes protein","volume":"17","author":"Lane","year":"2004","journal-title":"Biometals"},{"key":"key\n\t\t\t\t20170522132449_DDR612C6","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/ncpneuro0071","article-title":"Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies","volume":"2","author":"Z\u00fcchner","year":"2006","journal-title":"Nat. Clin. Pract. Neurol."},{"key":"key\n\t\t\t\t20170522132449_DDR612C7","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/ng1332","article-title":"Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein","volume":"36","author":"Watts","year":"2004","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522132449_DDR612C8","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/j.neuron.2010.11.036","article-title":"Exome sequencing reveals VCP mutations as a cause of familial ALS","volume":"68","author":"Johnson","year":"2010","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20170522132449_DDR612C9","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1136\/jnnp.2008.144683","article-title":"Clinical and electrodiagnostic findings in copper deficiency myeloneuropathy","volume":"80","author":"Goodman","year":"2009","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"key\n\t\t\t\t20170522132449_DDR612C10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/CND.0b013e3181828cf7","article-title":"Response to oral supplementation in copper deficiency myeloneuropathy","volume":"10","author":"Kelkar","year":"2008","journal-title":"J. Clin. Neuromuscul. Dis."},{"key":"key\n\t\t\t\t20170522132449_DDR612C11","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1007\/s00234-005-0016-5","article-title":"Imaging features of copper deficiency myelopathy: a study of 25 cases","volume":"48","author":"Kumar","year":"2006","journal-title":"Neuroradiology"},{"key":"key\n\t\t\t\t20170522132449_DDR612C12","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1038\/ncpneuro1008","article-title":"When metals compete: a case of copper-deficiency myeloneuropathy and anemia","volume":"5","author":"Spain","year":"2009","journal-title":"Nat. Clin. Pract. Neurol."},{"key":"key\n\t\t\t\t20170522132449_DDR612C13","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1016\/j.jns.2008.10.017","article-title":"Case of sensory ataxic ganglionopathy-myelopathy in copper deficiency","volume":"277","author":"Zara","year":"2009","journal-title":"J. Neurol. Sci."},{"key":"key\n\t\t\t\t20170522132449_DDR612C14","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1002\/mus.20631","article-title":"Motor neuron disease associated with copper deficiency","volume":"34","author":"Weihl","year":"2006","journal-title":"Muscle Nerve"},{"key":"key\n\t\t\t\t20170522132449_DDR612C15","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1002\/mus.21425","article-title":"Axonal sensory motor neuropathy in copper-deficient Wilson's disease","volume":"40","author":"Foubert-Samier","year":"2009","journal-title":"Muscle Nerve"},{"key":"key\n\t\t\t\t20170522132449_DDR612C16","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1038\/ng1328","article-title":"Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy","volume":"36","author":"Irobi","year":"2004","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522132449_DDR612C17","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1002\/ana.20468","article-title":"Distal spinal and bulbar muscular atrophy caused by dynactin mutation","volume":"57","author":"Puls","year":"2005","journal-title":"Ann. Neurol."},{"key":"key\n\t\t\t\t20170522132449_DDR612C18","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/ng1313","article-title":"Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome","volume":"36","author":"Windpassinger","year":"2004","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522132449_DDR612C19","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1083\/jcb.200511068","article-title":"A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation","volume":"172","author":"Levy","year":"2006","journal-title":"J. Cell Biol."},{"key":"key\n\t\t\t\t20170522132449_DDR612C20","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1086\/518900","article-title":"The nuclear factor kappa B-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset","volume":"81","author":"Maystadt","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522132449_DDR612C21","doi-asserted-by":"crossref","first-page":"7197","DOI":"10.1074\/jbc.M109.047084","article-title":"Quantitative proteomics analysis of cell cycle-regulated Golgi disassembly and reassembly","volume":"285","author":"Chen","year":"2010","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522132449_DDR612C22","doi-asserted-by":"crossref","first-page":"R38","DOI":"10.1093\/hmg\/ddq157","article-title":"Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy","volume":"19","author":"Ju","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522132449_DDR612C23","doi-asserted-by":"crossref","DOI":"10.1038\/ncb2301","article-title":"Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations","author":"Ritz","year":"2011","journal-title":"Nat. Cell Biol."},{"key":"key\n\t\t\t\t20170522132449_DDR612C24","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/B978-0-12-385928-0.00016-X","article-title":"Quantitative measurement of events in the mammalian unfolded protein response","volume":"491","author":"Shang","year":"2011","journal-title":"Methods Enzymol."},{"key":"key\n\t\t\t\t20170522132449_DDR612C25","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.jsb.2006.01.005","article-title":"Diverse functions with a common regulator: ubiquitin takes command of an AAA ATPase","volume":"156","author":"Ye","year":"2006","journal-title":"J. Struct. Biol."},{"key":"key\n\t\t\t\t20170522132449_DDR612C26","doi-asserted-by":"crossref","DOI":"10.1002\/prot.23073","article-title":"Crystal structure of FAF1 UBX domain in complex with p97\/VCP N domain reveals a conformational change in the conserved FcisP touch-turn motif of UBX domain","author":"Kim","year":"2011","journal-title":"Proteins"},{"key":"key\n\t\t\t\t20170522132449_DDR612C27","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.bioelechem.2003.09.021","article-title":"How do P-type ATPases transport ions?","volume":"63","author":"Apell","year":"2004","journal-title":"Bioelectrochemistry"},{"key":"key\n\t\t\t\t20170522132449_DDR612C28","doi-asserted-by":"crossref","first-page":"46736","DOI":"10.1074\/jbc.M208864200","article-title":"Copper-regulated trafficking of the Menkes disease copper ATPase is associated with formation of a phosphorylated catalytic intermediate","volume":"277","author":"Petris","year":"2002","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522132449_DDR612C29","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1136\/jmg.2007.049627","article-title":"Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein","volume":"44","author":"Kim","year":"2007","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170522132449_DDR612C30","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/nature10191","article-title":"Crystal structure of a copper-transporting PIB-type ATPase","volume":"475","author":"Gourdon","year":"2011","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522132449_DDR612C31","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1038\/ng0193-7","article-title":"Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase","volume":"3","author":"Vulpe","year":"1993","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522132449_DDR612C32","doi-asserted-by":"crossref","first-page":"12999","DOI":"10.1073\/pnas.0700163104","article-title":"The GABAA receptor alpha1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation","volume":"104","author":"Gallagher","year":"2007","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522132449_DDR612C33","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1074\/jbc.M607383200","article-title":"Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane","volume":"282","author":"Milenkovic","year":"2007","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522132449_DDR612C34","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1093\/hmg\/7.13.2063","article-title":"A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network","volume":"7","author":"Petris","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522132449_DDR612C35","doi-asserted-by":"crossref","first-page":"1721","DOI":"10.1242\/jcs.112.11.1721","article-title":"Identification of a di-leucine motif within the C terminus domain of the Menkes disease protein that mediates endocytosis from the plasma membrane","volume":"112","author":"Francis","year":"1999","journal-title":"J. Cell Sci."},{"key":"key\n\t\t\t\t20170522132449_DDR612C36","doi-asserted-by":"crossref","first-page":"54802","DOI":"10.1074\/jbc.M410854200","article-title":"Identification of the transmembrane metal binding site in Cu+-transporting PIB-type ATPases","volume":"279","author":"Mandal","year":"2004","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522132449_DDR612C37","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1097\/01.gim.0000245578.94312.1e","article-title":"Functional copper transport explains neurologic sparing in occipital horn syndrome","volume":"8","author":"Tang","year":"2006","journal-title":"Genet. Med."},{"key":"key\n\t\t\t\t20170522132449_DDR612C38","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1056\/NEJMoa070613","article-title":"Neonatal diagnosis and treatment of Menkes disease","volume":"358","author":"Kaler","year":"2008","journal-title":"N. Engl. J. Med."},{"key":"key\n\t\t\t\t20170522132449_DDR612C39","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1042\/BST0360105","article-title":"Roles of VCP in human neurodegenerative disorders","volume":"36","author":"Kakizuka","year":"2008","journal-title":"Biochem. Soc. Trans."},{"key":"key\n\t\t\t\t20170522132449_DDR612C40","doi-asserted-by":"crossref","first-page":"2403","DOI":"10.1016\/j.biocel.2009.06.008","article-title":"Phosphorylation regulates copper-responsive trafficking of the Menkes copper transporting P-type ATPase","volume":"41","author":"Veldhuis","year":"2009","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"key\n\t\t\t\t20170522132449_DDR612C41","doi-asserted-by":"crossref","first-page":"5980","DOI":"10.1073\/pnas.1009932108","article-title":"Calcium-dependent copper redistributions in neuronal cells revealed by a fluorescent copper sensor and X-ray fluorescence microscopy","volume":"108","author":"Dodani","year":"2011","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522132449_DDR612C42","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1136\/jmg.2003.013201","article-title":"A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21","volume":"41","author":"Takata","year":"2004","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170522132449_DDR612C43","doi-asserted-by":"crossref","first-page":"1523","DOI":"10.1093\/hmg\/ddg166","article-title":"The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway","volume":"12","author":"Cobbold","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522132449_DDR612C44","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1146\/annurev.biochem.72.121801.161800","article-title":"Signals for sorting of transmembrane proteins to endosomes and lysosomes","volume":"72","author":"Bonifacino","year":"2003","journal-title":"Annu. Rev. Biochem."},{"key":"key\n\t\t\t\t20170522132449_DDR612C45","year":"2010"},{"key":"key\n\t\t\t\t20170522132449_DDR612C46","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1523\/JNEUROSCI.3699-04.2005","article-title":"NMDA receptor activation mediates copper homeostasis in hippocampal neurons","volume":"25","author":"Schlief","year":"2005","journal-title":"J. Neurosci."},{"key":"key\n\t\t\t\t20170522132449_DDR612C47","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/j.mcn.2006.11.018","article-title":"ATP7A (Menkes protein) functions in axonal targeting and synaptogenesis","volume":"34","author":"El Meskini","year":"2007","journal-title":"Mol. Cell Neurosci."},{"key":"key\n\t\t\t\t20170522132449_DDR612C48","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1111\/j.1471-4159.2011.07417.x","article-title":"Biphasic effects of copper on neurotransmission in rat hippocampal neurons","volume":"119","author":"Peters","year":"2011","journal-title":"J. Neurochem."},{"key":"key\n\t\t\t\t20170522132449_DDR612C49","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1038\/nature10177","article-title":"In vivo genome editing restores haemostasis in a mouse model of haemophilia","volume":"475","author":"Li","year":"2011","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522132449_DDR612C50","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.neuron.2008.06.018","article-title":"Rapid restoration of cognition in Alzheimer's transgenic mice with 8-hydroxy quinoline analogs is associated with decreased interstitial Abeta","volume":"59","author":"Adlard","year":"2008","journal-title":"Neuron"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/21\/8\/1794\/17258884\/ddr612.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,24]],"date-time":"2021-12-24T00:36:29Z","timestamp":1640306189000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddr612"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,12,30]]},"references-count":50,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2011,12,30]]},"published-print":{"date-parts":[[2012,4,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddr612","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2011,12,30]]}}}