Varaico: Literature-Extracted Genetic Variants

Gene:DHTKD1
Variant:p.S777P
Back to variants list

DHTKD1

NM_018706.7:p.S777P

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

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

Hagen J et al.

Journal of Inherited Metabolic Disease, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."