Article
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis.
Autophagy - 1 Jan 2019
Vantaggiato Chiara, Panzeri Elena, Castelli Marianna, Citterio Andrea, Arnoldi Alessia, Santorelli Filippo Maria, Liguori Rocco, Scarlato Marina, Musumeci Olimpia, Toscano Antonio, Clementi Emilio, Bassi Maria Teresa
Abstract excerpt
ZFYVE26/Spastizin and SPG11/Spatacsin encode 2 large proteins that are mutated in hereditary autosomal-recessive spastic paraplegia/paraparesis (HSP) type 15 (AR-SPG15) and type 11 (AR-SPG11), respectively. We previously have reported that AR-SPG15-related ZFYVE26 mutations lead to autophagy defects with accumulation of immature autophagosomes. ZFYVE26 and SPG11 were found to be part of a complex including the...
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