Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
Montenegro G, Rebelo AP, Connell J, Allison R, Babalini C, D'Aloia M, Montieri P, Schüle R, Ishiura H, Price J, Strickland A, Gonzalez MA, Baumbach-Reardon L, Deconinck T, Huang J, Bernardi G, Vance JM, Rogers MT, Tsuji S, De Jonghe P, Pericak-Vance MA, Schöls L, Orlacchio A, Reid E, Züchner S.
Montenegro G, et al.
J Clin Invest. 2012 Feb;122(2):538-44. doi: 10.1172/JCI60560. Epub 2012 Jan 9.
J Clin Invest. 2012.
PMID: 22232211
Free PMC article.