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CL-MS OF hE1a (DHTKD1) or G729R hE1a with hE2o

ABSTRACT: CL-MS OF hE1a (DHTKD1) or G729R hE1a with hE2o to identify the possible difference in the interactions between hE1a-hE2o and G729R hE1a-hE2o

INSTRUMENT(S): Q Exactive HF

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Cell Culture

DISEASE(S): 2-aminoadipic 2-oxoadipic Aciduria

SUBMITTER: XU ZHANG

LAB HEAD: Frank Jordan

PROVIDER: PXD017792 | Pride | 2020-04-22

REPOSITORIES: pride

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Dataset's files

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			Action	DRS
	E1aE2o%20CDI%20QE07340.pride.mgf.gz	Mgf
	E1aE2o20CDI20QE07340.mgf	Mgf
	E1aE2o_CDI_QE07340.raw	Raw
	G729R_E2o%20QE07341.pride.mgf.gz	Mgf
	G729R_E2o20QE07341.mgf	Mgf

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1 - 5 of 10

Publications

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

Zhang Xu X Nemeria Natalia S NS Leandro João J Houten Sander S Lazarus Michael M Gerfen Gary G Ozohanics Oliver O Ambrus Attila A Nagy Balint B Brukh Roman R Jordan Frank F

The Journal of biological chemistry 20200417 23

2-Oxoadipate dehydrogenase (E1a, also known as DHTKD1, dehydrogenase E1, and transketolase domain-containing protein 1) is a thiamin diphosphate-dependent enzyme and part of the 2-oxoadipate dehydrogenase complex (OADHc) in l-lysine catabolism. Genetic findings have linked mutations in the <i>DHTKD1</i> gene to several metabolic disorders. These include α-aminoadipic and α-ketoadipic aciduria (AMOXAD), a rare disorder of l-lysine, l-hydroxylysine, and l-tryptophan catabolism, associated with cli ...[more]

PMID: 32303640

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