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GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient induced pluripotent stem cell model

Mishra, Himanshu K. ; Prots, Iryna ; Havlicek, Steven ; Kohl, Zacharias ; Perez-Branguli, Francesc ; Boerstler, Tom ; Anneser, Lukas ; Minakaki, Georgia ; Wend, Holger ; Hampl, Martin ; Leone, Marina ; Brückner, Martina ; Klucken, Jochen ; Reis, Andre ; Boyer, Leah ; Schuierer, Gerhard ; Behrens, Jürgen ; Lampert, Angelika ; Engel, Felix B. ; Gage, Fred H. ; Winkler, Jürgen ; Winner, Beate



Abstract

Objective: Mutations in the spastic paraplegia gene 11 (SPG11), encoding spatacsin, cause the most frequent form of autosomal-recessive complex hereditary spastic paraplegia (HSP) and juvenile-onset amyotrophic lateral sclerosis (ALS5). When SPG11 is mutated, patients frequently present with spastic paraparesis, a thin corpus callosum, and cognitive impairment. We previously delineated a ...

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