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Article

DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice.

Molecular and cellular biology - 1 Jul 2018

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

Abstract excerpt

DHTKD1, a part of 2-ketoadipic acid dehydrogenase complex, is involved in lysine and tryptophan catabolism. Mutations in DHTKD1 block the metabolic pathway and cause 2-aminoadipic and 2-oxoadipic aciduria (AMOXAD), an autosomal recessive inborn metabolic disorder. In addition, a nonsense mutation in DHTKD1 that we identified previously causes Charcot-Marie-Tooth disease (CMT) type 2Q, one of the most common...

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Identifiers

PMID: 29661920
DOI: 10.1128/MCB.00085-18
PMCID: PMC6002691

Genes

DHTKD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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