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.
Bakkar N, et al. Among authors: starr a.
Neurobiol Dis. 2021 Feb;149:105228. doi: 10.1016/j.nbd.2020.105228. Epub 2020 Dec 24.
Neurobiol Dis. 2021.
PMID: 33359139
Free PMC article.