PMC Links for Gene (Select 309312) - PMC

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Items: 4

Select item 43665061.

Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice

Yun Jin Pai, Kit-Yi Leung, Dawn Savery, Tim Hutchin, Helen Prunty, Simon Heales, Margaret E. Brosnan, John T. Brosnan, Andrew J. Copp, Nicholas D.E. Greene

Nat Commun. 2015 Mar 4; 6: 6388. Published online 2015 Mar 4. doi: 10.1038/ncomms7388

PMCID:: PMC4366506

Abstract Article PDF–1.2M

Select item 25980242.

Genomic deletion within GLDC is a major cause of non‐ketotic hyperglycinaemia

Junko Kanno, Tim Hutchin, Fumiaki Kamada, Ayumi Narisawa, Yoko Aoki, Yoichi Matsubara, Shigeo Kure

J Med Genet. 2007 Mar; 44(3): e69. doi: 10.1136/jmg.2006.043448

PMCID:: PMC2598024

Abstract Article PDF–315K

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