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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.
2020
2020
CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model
Charcot-Marie-Tooth disease (CMT) is a group of inherited neurological disorders of the peripheral nervous system. CMT is… 
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
DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice
ABSTRACT DHTKD1, a part of 2-ketoadipic acid dehydrogenase complex, is involved in lysine and tryptophan catabolism. Mutations in… 
2017
2017
Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.
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… 
Review
2014
Review
2014
Recent advances in Charcot-Marie-Tooth disease.
PURPOSE OF REVIEW This article focuses on recent advances in Charcot-Marie-Tooth disease, in particular additions to the genetic… 
Highly Cited
2013
Highly Cited
2013
DHTKD1 is essential for mitochondrial biogenesis and function maintenance
Highly Cited
2012
Highly Cited
2012
A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.
Highly Cited
2000
Highly Cited
2000
Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
In our series of human cDNA projects for accumulating sequence information on the coding sequences of unidentified genes, we… 
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