... of protein: application to lens ATPases . Anal. Biochem. 168 , 1 - 4 . 10.1016/0003-2697(88)90002-4 Choi , H. , Andersen , J. P. and Molday , R. S. ( 2019 ). Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders...

... of its AAA domain. Several missense mutations located in this domain lead to stable, nonsevering spastins that decorate a subset of microtubules, suggesting a possible negative gain-of-function mechanism for these mutants. Of the two main isoforms of spastin, only mutations of the long isoform, M1...