PMC Links for Gene (Select 309912) - PMC

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Items: 5

Select item 46671331.

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Claire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, Majida Charif, Sylvie Gerber, Lucas Fares-Taie, Naig Gueguen, François Halloy, David Moore, Patrizia Amati-Bonneau, Gael Manes, Maxime Hebrard, Béatrice Bocquet, Mélanie Quiles, Camille Piro-Mégy, Marisa Teigell, Cécile Delettre, Mireille Rossel, Isabelle Meunier, Markus Preising, Birgit Lorenz, Valerio Carelli, Patrick F. Chinnery, Patrick Yu-Wai-Man, Josseline Kaplan, Agathe Roubertie, Abdelhamid Barakat, Dominique Bonneau, Pascal Reynier, Jean-Michel Rozet, Pascale Bomont, Christian P. Hamel, Guy Lenaers

Am J Hum Genet. 2015 Nov 5; 97(5): 754–760. Published online 2015 Oct 22. doi: 10.1016/j.ajhg.2015.09.012

Correction in:: Am J Hum Genet. 2015 Nov 5; 97(5): 769.

PMCID:: PMC4667133

Abstract Article PDF–1.2M

Select item 34434092.

Synaptic protein ubiquitination in rat brain revealed by antibody-based ubiquitome analysis

Chan-Hyun Na, Drew R. Jones, Yanling Yang, Xusheng Wang, Yanji Xu, Junmin Peng

J Proteome Res. Author manuscript; available in PMC 2013 Sep 7.

Published in final edited form as: J Proteome Res. 2012 Sep 7; 11(9): 4722–4732. Published online 2012 Aug 15. doi: 10.1021/pr300536k

PMCID:: PMC3443409

Abstract Article PDF–4.2M

Select item 27788443.

A mitochondrial protein compendium elucidates complex I disease biology

David J. Pagliarini, Sarah E. Calvo, Betty Chang, Sunil A. Sheth, Scott B. Vafai, Shao-En Ong, Geoffrey A. Walford, Canny Sugiana, Avihu Boneh, William K. Chen, David E. Hill, Marc Vidal, James G. Evans, David R. Thorburn, Steven A. Carr, Vamsi K. Mootha

Cell. Author manuscript; available in PMC 2009 Nov 18.

Published in final edited form as: Cell. 2008 Jul 11; 134(1): 112–123. doi: 10.1016/j.cell.2008.06.016