Article
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
The Journal of clinical investigation - 1 Feb 2012
Montenegro Gladys, Rebelo Adriana P, Connell James, Allison Rachel, Babalini Carla, D'Aloia Michela, Montieri Pasqua, Schüle Rebecca, Ishiura Hiroyuki, Price Justin, Strickland Alleene, Gonzalez Michael A, Baumbach-Reardon Lisa, Deconinck Tine, Huang Jia, Bernardi Giorgio, Vance Jeffery M, Rogers Mark T, Tsuji Shoji, De Jonghe Peter, Pericak-Vance Margaret A, Schöls Ludger, Orlacchio Antonio, Reid Evan, Züchner Stephan
Abstract excerpt
Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodegenerative conditions. They are characterized by progressive spastic paralysis of the legs as a result of selective, length-dependent degeneration of the axons of the corticospinal tract. Mutations in 3 genes encoding proteins that work together to shape the ER into sheets and tubules - receptor accessory protein 1 (REEP1),...
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