Xu, Wang-Yang
DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. [electronic resource]
- Molecular and cellular biology 07 2018
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-5549
10.1128/MCB.00085-18 doi
2-Aminoadipic Acid--metabolism
Adipates--metabolism
Animals
Charcot-Marie-Tooth Disease--genetics
Codon, Nonsense
Disease Models, Animal
Early Growth Response Protein 2--metabolism
Humans
Insulin--metabolism
Ketoglutarate Dehydrogenase Complex
Ketone Oxidoreductases--deficiency
Male
Metabolic Networks and Pathways
Mice
Mice, Inbred C57BL
Mice, Knockout
Myelin P0 Protein--metabolism
Myelin Sheath--metabolism
Neural Conduction
Phenotype
Sciatic Nerve--metabolism