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Molecular analyses showed that CO23RFLC had acquired a marked increased expression of the MDR1 gene encoding for an efflux pump protein mainly responsible for the drug-resistance, due to a mutation in the transcription factor gene MRR1 [16] whereas CO23RFK had a homozygous mutation (S645Y substitution) in the FSK1 gene, responsible for the synthesis of glucan [17]

[DOI] [PubMed] [Google Scholar] Robert A, Nezamis JE, Lancaster C, Hanchar AJ

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Although it has been generally accepted that acquisition of a toxic property by mutant SOD1 forms rather than loss or gain of its superoxide scavenging activity is responsible for the manifestation of ALS phenotype, how exactly SOD1 mutations lead to the selective motor neuron death is not yet entirely clear