-
1
-
-
77949917893
-
Human copper homeostasis: a network of interconnected pathways
-
Lutsenko, S. 2010. Human copper homeostasis: a network of interconnected pathways. Curr. Opin. Chem. Biol. 14: 211-217.
-
(2010)
Curr. Opin. Chem. Biol
, vol.14
, pp. 211-217
-
-
Lutsenko, S.1
-
2
-
-
77649236039
-
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy
-
Kennerson, M.L. et al. 2010. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am. J. Hum. Genet. 86: 343-352.
-
(2010)
Am. J. Hum. Genet
, vol.86
, pp. 343-352
-
-
Kennerson, M.L.1
-
3
-
-
0028017998
-
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
-
Kaler, S.G. et al. 1994. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat. Genet. 8: 195-202.
-
(1994)
Nat. Genet.
, vol.8
, pp. 195-202
-
-
Kaler, S.G.1
-
4
-
-
0027475976
-
Isolation of a partial candidate gene for Menkes disease by positional cloning
-
Mercer, J.F. et al. 1993. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nat. Genet. 3: 20-25.
-
(1993)
Nat. Genet.
, vol.3
, pp. 20-25
-
-
Mercer, J.F.1
-
5
-
-
78651355486
-
ATP7A-related copper transport diseases-emerging concepts and future trends
-
Kaler, S.G. 2011. ATP7A-related copper transport diseases-emerging concepts and future trends. Nat. Rev. Neurol. 7: 15-29.
-
(2011)
Nat. Rev. Neurol.
, vol.7
, pp. 15-29
-
-
Kaler, S.G.1
-
6
-
-
79960033247
-
Crystal structure of a copper-transporting PIB-type ATPase
-
Gourdon, P. et al. 2011. Crystal structure of a copper-transporting PIB-type ATPase. Nature 475: 59-64.
-
(2011)
Nature
, vol.475
, pp. 59-64
-
-
Gourdon, P.1
-
7
-
-
0029909937
-
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, M.J. et al. 1996. 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. 15: 6084-6095.
-
(1996)
EMBO J.
, vol.15
, pp. 6084-6095
-
-
Petris, M.J.1
-
8
-
-
0032981423
-
Identification of a di-leucine motif within the C terminus domain of the Menkes disease protein that mediates endocytosis from the plasma membrane
-
Francis, M.J. et al. 1999. Identification of a di-leucine motif within the C terminus domain of the Menkes disease protein that mediates endocytosis from the plasma membrane. J. Cell. Sci. 112: 1721-1732.
-
(1999)
J. Cell. Sci.
, vol.112
, pp. 1721-1732
-
-
Francis, M.J.1
-
9
-
-
0032816204
-
Characterization of the Menkes protein copper-binding domains and their role in copper-induced protein relocalization
-
Goodyer, I.D. et al. 1999. Characterization of the Menkes protein copper-binding domains and their role in copper-induced protein relocalization. Hum. Mol. Genet. 8: 1473-1478.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1473-1478
-
-
Goodyer, I.D.1
-
10
-
-
0033574576
-
The role of GMXCXXC metal binding sites in the copper-induced redistribution of the Menkes protein
-
Strausak, D. et al. 1999. The role of GMXCXXC metal binding sites in the copper-induced redistribution of the Menkes protein. J. Biol. Chem. 274: 11170-11177.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 11170-11177
-
-
Strausak, D.1
-
11
-
-
0033618310
-
Functional analysis of the N-terminal CXXC metal-binding motifs in the human Menkes copper-transporting P-type ATPase expressed in cultured mammalian cells
-
Voskoboinik, I. et al. 1999. Functional analysis of the N-terminal CXXC metal-binding motifs in the human Menkes copper-transporting P-type ATPase expressed in cultured mammalian cells. J. Biol. Chem. 274: 22008-22012.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 22008-22012
-
-
Voskoboinik, I.1
-
12
-
-
0031730641
-
A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network
-
Petris, M.J. et al. 1998. A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network. Hum. Mol. Genet. 7: 2063-2071.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 2063-2071
-
-
Petris, M.J.1
-
13
-
-
2242427117
-
Copper-regulated trafficking of the Menkes disease copper ATPase is associated with formation of a phosphorylated catalytic intermediate
-
Petris, M.J. et al. 2002. Copper-regulated trafficking of the Menkes disease copper ATPase is associated with formation of a phosphorylated catalytic intermediate. J. Biol. Chem. 277: 46736-46742.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 46736-46742
-
-
Petris, M.J.1
-
14
-
-
6044261452
-
Signals regulating trafficking of Menkes (MNK; ATP7A) copper-translocating P-type ATPase in polarized MDCK cells
-
Greenough, M. et al. 2004. Signals regulating trafficking of Menkes (MNK; ATP7A) copper-translocating P-type ATPase in polarized MDCK cells. Am. J. Physiol. Cell. Physiol. 287: C1463-C1471.
-
(2004)
Am. J. Physiol. Cell. Physiol.
, vol.287
-
-
Greenough, M.1
-
15
-
-
0344441418
-
Endosomal trafficking of the Menkes copper ATPase ATP7A is mediated by vesicles containing the Rab7 and Rab5 GTPase proteins
-
Pascale, M.C. et al. 2003. Endosomal trafficking of the Menkes copper ATPase ATP7A is mediated by vesicles containing the Rab7 and Rab5 GTPase proteins. Exp. Cell. Res. 291: 377-385.
-
(2003)
Exp. Cell. Res.
, vol.291
, pp. 377-385
-
-
Pascale, M.C.1
-
16
-
-
37149037525
-
Activation of ADP-ribosylation factor regulates biogenesis of the ATP7A-containing trans-Golgi network compartment and its Cu-induced trafficking
-
Holloway, Z.G. et al. 2007. Activation of ADP-ribosylation factor regulates biogenesis of the ATP7A-containing trans-Golgi network compartment and its Cu-induced trafficking. Am. J. Physiol. Cell Physiol. 293: C1753-67.
-
(2007)
Am. J. Physiol. Cell Physiol.
, vol.293
-
-
Holloway, Z.G.1
-
17
-
-
84878710409
-
Trafficking of the Menkes copper transporter ATP7A is regulated by clathrin-, AP-2-, AP-1-, and Rab22-dependent steps
-
S1-S8
-
Holloway, Z.G. et al. 2013. Trafficking of the Menkes copper transporter ATP7A is regulated by clathrin-, AP-2-, AP-1-, and Rab22-dependent steps. Mol. Biol. Cell 24: 1735-1748, S1-S8.
-
(2013)
Mol. Biol. Cell
, vol.24
, pp. 1735-1748
-
-
Holloway, Z.G.1
-
18
-
-
2442597211
-
Complementation of Saccharomyces cerevisiae ccc2 mutant by a putative P1B-ATPase from Brassica napus supports a copper-transporting function
-
Southron, J.L., U. Basu & G.J. Taylor . 2004. Complementation of Saccharomyces cerevisiae ccc2 mutant by a putative P1B-ATPase from Brassica napus supports a copper-transporting function. FEBS Lett. 566: 218-222.
-
(2004)
FEBS Lett.
, vol.566
, pp. 218-222
-
-
Southron, J.L.1
Basu, U.2
Taylor, G.J.3
-
19
-
-
84859233787
-
Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy
-
Yi, L. et al. 2012. Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy. Hum. Mol. Genet. 21: 1794-1807.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 1794-1807
-
-
Yi, L.1
-
20
-
-
67349090057
-
Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia
-
Weihl, C.C., A. Pestronk & V.E. Kimonis . 2009. Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia. Neuromuscul. Disord. 19: 308-315.
-
(2009)
Neuromuscul. Disord.
, vol.19
, pp. 308-315
-
-
Weihl, C.C.1
Pestronk, A.2
Kimonis, V.E.3
-
21
-
-
78649941297
-
Exome sequencing reveals VCP mutations as a cause of familial ALS
-
Johnson, J.O. et al. 2010. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68: 857-864.
-
(2010)
Neuron
, vol.68
, pp. 857-864
-
-
Johnson, J.O.1
-
22
-
-
1842556279
-
Adaptable adaptors for coated vesicles
-
Robinson, M.S. 2004. Adaptable adaptors for coated vesicles. Trends Cell Biol. 14: 167-174.
-
(2004)
Trends Cell Biol.
, vol.14
, pp. 167-174
-
-
Robinson, M.S.1
-
23
-
-
84878323594
-
The clathrin adaptor complexes as a paradigm for membrane-associated allostery
-
Canagarajah, B.J. et al. 2013. The clathrin adaptor complexes as a paradigm for membrane-associated allostery. Protein Sci. 22: 517-529.
-
(2013)
Protein Sci.
, vol.22
, pp. 517-529
-
-
Canagarajah, B.J.1
-
24
-
-
84866739812
-
Distinct and overlapping roles for AP-1 and GGAs revealed by the "knocksideways" system
-
Hirst, J. et al. 2012. Distinct and overlapping roles for AP-1 and GGAs revealed by the "knocksideways" system. Curr. Biol. 22: 1711-1716.
-
(2012)
Curr. Biol.
, vol.22
, pp. 1711-1716
-
-
Hirst, J.1
-
25
-
-
84874905750
-
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy
-
Martinelli, D. et al. 2013. MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy. Brain 136: 872-881.
-
(2013)
Brain
, vol.136
, pp. 872-881
-
-
Martinelli, D.1
|