The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease.

doi:10.1016/j.nbd.2020.105228

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Article

The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease.

Neurobiology of disease - 1 Feb 2021

Bakkar Nadine, Starr Alexander, Rabichow Benjamin E, Lorenzini Ileana, McEachin Zachary T, Kraft Robert, Chaung Matthew, Macklin-Isquierdo Sam, Wingfield Taylor, Carhart Briggs, Zahler Nathan, Chang Wen-Hsuan, Bassell Gary J, Betourne Alexandre, Boulis Nicholas, Alworth Samuel V, Ichida Justin K, August Paul R, Zarnescu Daniela C, Sattler Rita, Bowser Robert

Abstract excerpt

Disruption in copper homeostasis causes a number of cognitive and motor deficits. Wilson's disease and Menkes disease are neurodevelopmental disorders resulting from mutations in the copper transporters ATP7A and ATP7B, with ATP7A mutations also causing occipital horn syndrome, and distal motor neuropathy. A 65 year old male presenting with brachial amyotrophic diplegia and diagnosed with amyotrophic lateral...

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PMID: 33359139
DOI: 10.1016/j.nbd.2020.105228
PMCID: PMC9676097

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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