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(2006) Hypoxia signalling in cancer and approaches to enforce tumour regression

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Although it is unclear why these missense mutations in ATP7A cause selective degeneration of motor neurons, it is interesting to note that a missense mutation in carboxyl half of ATP7A (p.M1311V) was recently linked to a patient with ALS and characterization of patient-derived induced pluripotent stem cell motor neurons showed trafficking defects reminiscent of those described for dHMN-linked ATP7A mutants (Bakkar et al., 2021)