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Items: 2

Select item 44704161.

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺

Paola Venco, Massimo Bonora, Carlotta Giorgi, Elena Papaleo, Arcangela Iuso, Holger Prokisch, Paolo Pinton, Valeria Tiranti

Front Genet. 2015; 6: 185. Published online 2015 May 19. doi: 10.3389/fgene.2015.00185

PMCID:: PMC4470416

Abstract Article PDF–1.5M

Select item 38199342.

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12

Guida Landouré, Peng-Peng Zhu, Charles M. Lourenço, Janel O. Johnson, Camilo Toro, Katherine V. Bricceno, Carlo Rinaldi, Katherine G. Meilleur, Modibo Sangaré, Oumarou Diallo, Tyler M. Pierson, Hiroyuki Ishiura, Shoji Tsuji, Nichole Hein, John K. Fink, Marion Stoll, Garth Nicholson, Michael Gonzalez, Fiorella Speziani, Alexandra Dürr, Giovanni Stevanin, Leslie G. Biesecker, for the NIH Intramural Sequencing Center, John Accardi, Dennis M. D. Landis, William A. Gahl, Bryan J. Traynor, Wilson Marques, Jr, Stephan Züchner, Craig Blackstone, Kenneth H. Fischbeck, Barrington G. Burnett

Hum Mutat. Author manuscript; available in PMC 2014 Oct 1.

Published in final edited form as: Hum Mutat. 2013 Oct; 34(10): 10.1002/humu.22378. Published online 2013 Aug 12. doi: 10.1002/humu.22378