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Fig. 2 | BMC Medical Genomics

Fig. 2

From: A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics

Fig. 2

Characterization of SPAST c.483_484delinsC. (A) Schematic structure of the human wild-type (WT) and mutant spastin proteins. The red arrow indicates the location of c.483_484delinsC (p.Val162Leufs*2). M1, spastin isoforms (68 kDa); M87, spastin isoforms (60 kDa). Schematic of the spastin expression vectors is shown in the bottom right corner. (B) The protein expression of WT-spastin (WT-M1 and WT-M87) and c.483_484delinsC-spastin (MUT-M1 and MUT-M87). (C) Graphical representation of protein levels in (B). (D) Time-course stability analysis of mutant spastin (V162Lfs*2-M1). CHX, cycloheximide (500 µM). (E) Statistical analysis of (D). All values were normalized to those of untreated controls. (F) Time-course stability analysis of mutant spastin (V162Lfs*2-M87). (G) Statistical analysis of (F). Data represent the mean ± SEM from three independent experiments. ns, P>0.05, *P < 0.05, **P < 0.01

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BMC Medical Genomics

ISSN: 1755-8794

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