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Items: 4

Select item 72783401.

Structure–function analyses of the G729R 2-oxoadipate dehydrogenase genetic variant associated with a disorder of l-lysine metabolism

Xu Zhang, Natalia S. Nemeria, João Leandro, Sander Houten, Michael Lazarus, Gary Gerfen, Oliver Ozohanics, Attila Ambrus, Balint Nagy, Roman Brukh, Frank Jordan

J Biol Chem. 2020 Jun 5; 295(23): 8078–8095. Published online 2020 Apr 17. doi: 10.1074/jbc.RA120.012761

PMCID:: PMC7278340

Article PDF–5.0M

Select item 60026912.

DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice

Wang-Yang Xu, Houbao Zhu, Yan Shen, Ying-Han Wan, Xiao-Die Tu, Wen-Ting Wu, Lingyun Tang, Hong-Xin Zhang, Shun-Yuan Lu, Xiao-Long Jin, Jian Fei, Zhu-Gang Wang

Mol Cell Biol. 2018 Jul 1; 38(13): e00085-18. Prepublished online 2018 Apr 16. Published online 2018 Jun 14. doi: 10.1128/MCB.00085-18

PMCID:: PMC6002691

Article PDF–2.7M

Select item 54523573.

Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism

Jana Konkoľová, Ján Chandoga, Juraj Kováčik, Marcel Repiský, Veronika Kramarová, Ivana Paučinová, Daniel Böhmer

BMC Med Genet. 2017; 18: 59. Published online 2017 May 31. doi: 10.1186/s12881-017-0421-8

PMCID:: PMC5452357

Article PDF–1.1M

Select item 35165994.

DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria

Katharina Danhauser, Sven W. Sauer, Tobias B. Haack, Thomas Wieland, Christian Staufner, Elisabeth Graf, Johannes Zschocke, Tim M. Strom, Thorsten Traub, Jürgen G. Okun, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch, Stefan Kölker

Am J Hum Genet. 2012 Dec 7; 91(6): 1082–1087. doi: 10.1016/j.ajhg.2012.10.006