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DHTKD1 gene

Known as: DEHYDROGENASE E1 AND TRANSKETOLASE DOMAINS-CONTAINING PROTEIN 1, MGC3090, KIAA1630 
National Institutes of Health

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Related topics

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Chromosome 10 Short Arm

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
A Chinese pedigree with a novel mutation in GJB1 gene and a rare variation in DHTKD1 gene for diverse Charcot‑Marie‑Tooth diseases.
Charcot‑Marie‑Tooth (CMT) disease is a group of motor and sensory neuropathies with a high degree of pathological and genetic… 
2019
2019
DHTKD1 and OGDH display in vivo substrate overlap and form a hybrid ketoacid dehydrogenase complex
Glutaric aciduria type 1 (GA1) is an inborn error of lysine degradation characterized by a specific encephalopathy that is caused… 
2018
2018
GM-CSF driven myeloid cells in adipose tissue link weight gain and insulin resistance via formation of 2-aminoadipate
In a GM-CSF driven myeloid cell deficient mouse model (Csf2−/−) that has preserved insulin sensitivity despite increased… 
2015
2015
New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria.
2-Ketoadipic aciduria (OMIM 204750), a defect in the catabolic pathway of tryptophan, lysine, and hydroxylysine, is characterized… 
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