BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

245 related articles for article (PubMed ID: 22210628)

  • 1. Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.
    Yi L; Donsante A; Kennerson ML; Mercer JF; Garbern JY; Kaler SG
    Hum Mol Genet; 2012 Apr; 21(8):1794-807. PubMed ID: 22210628
    [TBL] [Abstract][Full Text] [Related]  

  • 2. ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A.
    Yi L; Kaler S
    Ann N Y Acad Sci; 2014 May; 1314(1):49-54. PubMed ID: 24754450
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Interaction between the AAA ATPase p97/VCP and a concealed UBX domain in the copper transporter ATP7A is associated with motor neuron degeneration.
    Yi L; Kaler SG
    J Biol Chem; 2018 May; 293(20):7606-7617. PubMed ID: 29599289
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking.
    Yi L; Kaler SG
    Hum Mol Genet; 2015 May; 24(9):2411-25. PubMed ID: 25574028
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
    Kennerson ML; Nicholson GA; Kaler SG; Kowalski B; Mercer JF; Tang J; Llanos RM; Chu S; Takata RI; Speck-Martins CE; Baets J; Almeida-Souza L; Fischer D; Timmerman V; Taylor PE; Scherer SS; Ferguson TA; Bird TD; De Jonghe P; Feely SM; Shy ME; Garbern JY
    Am J Hum Genet; 2010 Mar; 86(3):343-52. PubMed ID: 20170900
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease.
    Bakkar N; Starr A; Rabichow BE; Lorenzini I; McEachin ZT; Kraft R; Chaung M; Macklin-Isquierdo S; Wingfield T; Carhart B; Zahler N; Chang WH; Bassell GJ; Betourne A; Boulis N; Alworth SV; Ichida JK; August PR; Zarnescu DC; Sattler R; Bowser R
    Neurobiol Dis; 2021 Feb; 149():105228. PubMed ID: 33359139
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).
    Perez-Siles G; Grant A; Ellis M; Ly C; Kidambi A; Khalil M; Llanos RM; Fontaine SL; Strickland AV; Züchner S; Bermeo S; Neist E; Brennan-Speranza TC; Takata RI; Speck-Martins CE; Mercer JF; Nicholson GA; Kennerson ML
    Metallomics; 2016 Sep; 8(9):981-92. PubMed ID: 27293072
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway.
    Cobbold C; Coventry J; Ponnambalam S; Monaco AP
    Hum Mol Genet; 2003 Jul; 12(13):1523-33. PubMed ID: 12812980
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Trafficking of the Menkes copper transporter ATP7A is regulated by clathrin-, AP-2-, AP-1-, and Rab22-dependent steps.
    Holloway ZG; Velayos-Baeza A; Howell GJ; Levecque C; Ponnambalam S; Sztul E; Monaco AP
    Mol Biol Cell; 2013 Jun; 24(11):1735-48, S1-8. PubMed ID: 23596324
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Multiple di-leucines in the ATP7A copper transporter are required for retrograde trafficking to the trans-Golgi network.
    Zhu S; Shanbhag V; Hodgkinson VL; Petris MJ
    Metallomics; 2016 Sep; 8(9):993-1001. PubMed ID: 27337370
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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.
    Petris MJ; Mercer JF
    Hum Mol Genet; 1999 Oct; 8(11):2107-15. PubMed ID: 10484781
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Small amounts of functional ATP7A protein permit mild phenotype.
    Møller LB
    J Trace Elem Med Biol; 2015; 31():173-7. PubMed ID: 25172213
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice--an animal model of Menkes disease.
    Lenartowicz M; Grzmil P; Shoukier M; Starzyński R; Marciniak M; Lipiński P
    Metallomics; 2012 Feb; 4(2):197-204. PubMed ID: 22089129
    [TBL] [Abstract][Full Text] [Related]  

  • 14. ATP7A-related copper transport diseases-emerging concepts and future trends.
    Kaler SG
    Nat Rev Neurol; 2011 Jan; 7(1):15-29. PubMed ID: 21221114
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.
    Dagenais SL; Adam AN; Innis JW; Glover TW
    Am J Hum Genet; 2001 Aug; 69(2):420-7. PubMed ID: 11431706
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders.
    Merner ND; Dion PA; Rouleau GA
    Clin Genet; 2011 Jan; 79(1):23-34. PubMed ID: 21143467
    [TBL] [Abstract][Full Text] [Related]  

  • 17. X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron.
    Hodgkinson VL; Dale JM; Garcia ML; Weisman GA; Lee J; Gitlin JD; Petris MJ
    J Pathol; 2015 Jun; 236(2):241-50. PubMed ID: 25639447
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network.
    Petris MJ; Camakaris J; Greenough M; LaFontaine S; Mercer JF
    Hum Mol Genet; 1998 Dec; 7(13):2063-71. PubMed ID: 9817923
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Silencing the Menkes copper-transporting ATPase (Atp7a) gene in rat intestinal epithelial (IEC-6) cells increases iron flux via transcriptional induction of ferroportin 1 (Fpn1).
    Gulec S; Collins JF
    J Nutr; 2014 Jan; 144(1):12-9. PubMed ID: 24174620
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Human macrophage ATP7A is localized in the trans-Golgi apparatus, controls intracellular copper levels, and mediates macrophage responses to dermal wounds.
    Kim HW; Chan Q; Afton SE; Caruso JA; Lai B; Weintraub NL; Qin Z
    Inflammation; 2012 Feb; 35(1):167-75. PubMed ID: 21336677
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.