Varaico: Literature-Extracted Genetic Variants

Gene:DHTKD1
Variant:p.R455Q
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DHTKD1

NM_018706.7:p.R455Q

Associated Papers

Functional Versatility of the Human 2-Oxoadipate Dehydrogenase in the L-Lysine Degradation Pathway toward Its Non-Cognate Substrate 2-Oxopimelic Acid.

Nemeria NS et al.

International Journal of Molecular Sciences, 2022

Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients.

Osmanovic A et al.

Genes, 2021

Inhibition and Crystal Structure of the Human DHTKD1-Thiamin Diphosphate Complex.

Leandro J et al.

Acs Chemical Biology, 2020

Crystal structure and interaction studies of human DHTKD1 provide insight into a mitochondrial megacomplex in lysine catabolism.

Bezerra GA et al.

Iucrj, 2020

Evidence for functional and regulatory cross-talk between the tricarboxylic acid cycle 2-oxoglutarate dehydrogenase complex and 2-oxoadipate dehydrogenase on the l-lysine, l-hydroxylysine and l-tryptophan degradation pathways from studies in vitro.

Nemeria NS et al.

Biochimica Et Biophysica Acta. Bioenergetics, 2018

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

Hagen J et al.

Journal of Inherited Metabolic Disease, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."