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Items: 4

Select item 70024881.

Synthetic analogues of 2-oxo acids discriminate metabolic contribution of the 2-oxoglutarate and 2-oxoadipate dehydrogenases in mammalian cells and tissues

Artem V. Artiukhov, Aneta Grabarska, Ewelina Gumbarewicz, Vasily A. Aleshin, Thilo Kähne, Toshihiro Obata, Alexey V. Kazantsev, Nikolay V. Lukashev, Andrzej Stepulak, Alisdair R. Fernie, Victoria I. Bunik

Sci Rep. 2020; 10: 1886. Published online 2020 Feb 5. doi: 10.1038/s41598-020-58701-4

PMCID:: PMC7002488

Abstract Article PDF–6.2M

Select item 35166002.

A Nonsense Mutation in DHTKD1 Causes Charcot-Marie-Tooth Disease Type 2 in a Large Chinese Pedigree

Wang-yang Xu, Ming-min Gu, Lian-hua Sun, Wen-ting Guo, Hou-bao Zhu, Jian-fang Ma, Wen-tao Yuan, Ying Kuang, Bao-jun Ji, Xiao-lin Wu, Yan Chen, Hong-xin Zhang, Fu-ting Sun, Wei Huang, Lei Huang, Sheng-di Chen, Zhu-gang Wang

Am J Hum Genet. 2012 Dec 7; 91(6): 1088–1094. doi: 10.1016/j.ajhg.2012.09.018