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Volumn 236, Issue 2, 2015, Pages 241-250

X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron

Author keywords

ATP7A; copper; Menkes disease; motor neuron; motor neuropathy; X linked spinal muscular atrophy

Indexed keywords

COPPER; MENKES PROTEIN; PROTEIN; SMAX3 PROTEIN; UNCLASSIFIED DRUG; ADENOSINE TRIPHOSPHATASE; ATP7A PROTEIN, MOUSE; CATION TRANSPORT PROTEIN;

EID: 84929294576     PISSN: 00223417     EISSN: 10969896     Source Type: Journal    
DOI: 10.1002/path.4511     Document Type: Article
Times cited : (28)

References (20)
  • 1
    • 0029909937 scopus 로고    scopus 로고
    • 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
    • Petris MJ, Mercer JF, Culvenor JG, et al., 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. EMBO J 1996; 15: 6084-6095.
    • (1996) EMBO J , vol.15 , pp. 6084-6095
    • Petris, M.J.1    Mercer, J.F.2    Culvenor, J.G.3
  • 2
    • 38949106566 scopus 로고    scopus 로고
    • Neonatal diagnosis and treatment of Menkes disease
    • Kaler SG, Holmes CS, Goldstein DS, et al., Neonatal diagnosis and treatment of Menkes disease. N Engl J Med 2008; 358: 605-614.
    • (2008) N Engl J Med , vol.358 , pp. 605-614
    • Kaler, S.G.1    Holmes, C.S.2    Goldstein, D.S.3
  • 3
    • 78651355486 scopus 로고    scopus 로고
    • ATP7A-related copper transport diseases - Emerging concepts and future trends
    • Kaler SG,. ATP7A-related copper transport diseases-emerging concepts and future trends. Nat Rev Neurol 2011; 7: 15-29.
    • (2011) Nat Rev Neurol , vol.7 , pp. 15-29
    • Kaler, S.G.1
  • 4
    • 77649236039 scopus 로고    scopus 로고
    • Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy
    • Kennerson ML, Nicholson GA, Kaler SG, et al., Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet 2010; 86: 343-352.
    • (2010) Am J Hum Genet , vol.86 , pp. 343-352
    • Kennerson, M.L.1    Nicholson, G.A.2    Kaler, S.G.3
  • 5
    • 84859233787 scopus 로고    scopus 로고
    • Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy
    • Yi L, Donsante A, Kennerson ML, et al., Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy. Hum Mol Genet 2012; 21: 1794-1807.
    • (2012) Hum Mol Genet , vol.21 , pp. 1794-1807
    • Yi, L.1    Donsante, A.2    Kennerson, M.L.3
  • 6
    • 84870504770 scopus 로고    scopus 로고
    • Maternofetal and neonatal copper requirements revealed by enterocyte-specific deletion of the Menkes disease protein
    • Wang Y, Zhu S, Hodgkinson V, et al., Maternofetal and neonatal copper requirements revealed by enterocyte-specific deletion of the Menkes disease protein. Am J Physiol Gastrointest Liver Physiol 2012; 303: G1236-1244.
    • (2012) Am J Physiol Gastrointest Liver Physiol , vol.303 , pp. G1236-G1244
    • Wang, Y.1    Zhu, S.2    Hodgkinson, V.3
  • 7
    • 84865047664 scopus 로고    scopus 로고
    • Conditional knockout of the Menkes disease copper transporter demonstrates its critical role in embryogenesis
    • Wang Y, Zhu S, Weisman GA, et al., Conditional knockout of the Menkes disease copper transporter demonstrates its critical role in embryogenesis. PloS One 2012; 7: e43039.
    • (2012) PloS One , vol.7 , pp. e43039
    • Wang, Y.1    Zhu, S.2    Weisman, G.A.3
  • 8
    • 0030853718 scopus 로고    scopus 로고
    • Characterization of variables defining hindpaw withdrawal latency evoked by radiant thermal stimuli
    • Dirig DM, Salami A, Rathbun ML, et al., Characterization of variables defining hindpaw withdrawal latency evoked by radiant thermal stimuli. J Neurosci Methods 1997; 76: 183-191.
    • (1997) J Neurosci Methods , vol.76 , pp. 183-191
    • Dirig, D.M.1    Salami, A.2    Rathbun, M.L.3
  • 9
    • 79955003399 scopus 로고    scopus 로고
    • Calcium-dependent copper redistributions in neuronal cells revealed by a fluorescent copper sensor and X-ray fluorescence microscopy
    • Dodani SC, Domaille DW, Nam CI, et al., Calcium-dependent copper redistributions in neuronal cells revealed by a fluorescent copper sensor and X-ray fluorescence microscopy. Proc Natl Acad Sci USA 2011; 108: 5980-5985.
    • (2011) Proc Natl Acad Sci USA , vol.108 , pp. 5980-5985
    • Dodani, S.C.1    Domaille, D.W.2    Nam, C.I.3
  • 10
    • 84922481706 scopus 로고    scopus 로고
    • Subcellular metal imaging identifies dynamic sites of Cu accumulation in Chlamydomonas
    • Hong-Hermesdorf A, Miethke M, Gallaher SD, et al., Subcellular metal imaging identifies dynamic sites of Cu accumulation in Chlamydomonas. Nat Chem Biol 2014; 10: 1034-1042.
    • (2014) Nat Chem Biol , vol.10 , pp. 1034-1042
    • Hong-Hermesdorf, A.1    Miethke, M.2    Gallaher, S.D.3
  • 11
    • 0025755648 scopus 로고
    • Changes in Cu,Zn-superoxide dismutase, cytochrome c oxidase, glutathione peroxidase and glutathione transferase activities in copper-deficient mice and rats
    • Prohaska JR,. Changes in Cu,Zn-superoxide dismutase, cytochrome c oxidase, glutathione peroxidase and glutathione transferase activities in copper-deficient mice and rats. J Nutrit 1991; 121: 355-363.
    • (1991) J Nutrit , vol.121 , pp. 355-363
    • Prohaska, J.R.1
  • 12
    • 0021087046 scopus 로고
    • Changes in tissue growth, concentrations of copper, iron, cytochrome oxidase and superoxide dismutase subsequent to dietary or genetic copper deficiency in mice
    • Prohaska JR,. Changes in tissue growth, concentrations of copper, iron, cytochrome oxidase and superoxide dismutase subsequent to dietary or genetic copper deficiency in mice. J Nutrit 1983; 113: 2048-2058.
    • (1983) J Nutrit , vol.113 , pp. 2048-2058
    • Prohaska, J.R.1
  • 13
    • 0033180516 scopus 로고    scopus 로고
    • Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity
    • Arber S, Han B, Mendelsohn M, et al., Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity. Neuron 1999; 23: 659-674.
    • (1999) Neuron , vol.23 , pp. 659-674
    • Arber, S.1    Han, B.2    Mendelsohn, M.3
  • 14
    • 0034983538 scopus 로고    scopus 로고
    • Patterning of muscle acetylcholine receptor gene expression in the absence of motor innervation
    • Yang X, Arber S, William C, et al., Patterning of muscle acetylcholine receptor gene expression in the absence of motor innervation. Neuron 2001; 30: 399-410.
    • (2001) Neuron , vol.30 , pp. 399-410
    • Yang, X.1    Arber, S.2    William, C.3
  • 15
    • 79960004405 scopus 로고    scopus 로고
    • SnapShot: Spinal cord development
    • e171
    • Alaynick WA, Jessell TM, Pfaff SL,. SnapShot: spinal cord development. Cell 2011; 146: 178-178, e171.
    • (2011) Cell , vol.146 , pp. 178-178
    • Alaynick, W.A.1    Jessell, T.M.2    Pfaff, S.L.3
  • 16
    • 33646856612 scopus 로고    scopus 로고
    • Copper homeostasis in the CNS: A novel link between the NMDA receptor and copper homeostasis in the hippocampus
    • Schlief ML, Gitlin JD,. Copper homeostasis in the CNS: a novel link between the NMDA receptor and copper homeostasis in the hippocampus. Mol Neurobiol 2006; 33: 81-90.
    • (2006) Mol Neurobiol , vol.33 , pp. 81-90
    • Schlief, M.L.1    Gitlin, J.D.2
  • 17
    • 12144257164 scopus 로고    scopus 로고
    • NMDA receptor activation mediates copper homeostasis in hippocampal neurons
    • Schlief ML, Craig AM, Gitlin JD,. NMDA receptor activation mediates copper homeostasis in hippocampal neurons. J Neurosci 2005; 25: 239-246.
    • (2005) J Neurosci , vol.25 , pp. 239-246
    • Schlief, M.L.1    Craig, A.M.2    Gitlin, J.D.3
  • 18
    • 17044381722 scopus 로고    scopus 로고
    • Mammalian motor neurons co-release glutamate and acetylcholine at central synapses
    • Nishimaru H, Restrepo CE, Ryge J, et al., Mammalian motor neurons co-release glutamate and acetylcholine at central synapses. Proc Natl Acad Sci USA 2005; 102: 5245-5249.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 5245-5249
    • Nishimaru, H.1    Restrepo, C.E.2    Ryge, J.3
  • 19
    • 84864200035 scopus 로고    scopus 로고
    • Oligodendroglia metabolically support axons and contribute to neurodegeneration
    • Lee Y, Morrison BM, Li Y, et al., Oligodendroglia metabolically support axons and contribute to neurodegeneration. Nature 2012; 487: 443-448.
    • (2012) Nature , vol.487 , pp. 443-448
    • Lee, Y.1    Morrison, B.M.2    Li, Y.3
  • 20
    • 33644520285 scopus 로고    scopus 로고
    • NMDA receptors mediate calcium accumulation in myelin during chemical ischaemia
    • Micu I, Jiang Q, Coderre E, et al., NMDA receptors mediate calcium accumulation in myelin during chemical ischaemia. Nature 2006; 439: 988-992.
    • (2006) Nature , vol.439 , pp. 988-992
    • Micu, I.1    Jiang, Q.2    Coderre, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.