| 50850 | Q9QYY8 | SPAST_MOUSE | Spastin (EC 5.6.1.1) | DISRUPTION PHENOTYPE | Mice develop gait abnormalities that correlate with phenotypes seen in hereditary spastic paraplegia (HSP) patients (PubMed:19453301). Adults are sterile (PubMed:17101632). Progressive axonal degeneration characterized by focal axonal swellings and the accumulation of organelles and cytoskeletal components, which is suggestive of impaired axonal transport (PubMed:17101632, PubMed:19453301). Primary cortical neurons develop swellings at the border between stable and dynamic microtubules (PubMed:17101632). In neurons with axonal swellings, the mitochondrial axonal transport defects are exacerbated: distal to axonal swellings both anterograde and retrograde transport are severely reduced (PubMed:19453301). In cortical neurons, axonal swellings is probably due to impaired microtubule dynamics all along the axons (PubMed:22773755). {ECO:0000269|PubMed:17101632, ECO:0000269|PubMed:19453301, ECO:0000269|PubMed:22773755}. |