Title: | DHTKD1 deficiency causes Charcot-Marie-Tooth disease in mice |
Journal : | Molecular and cellular biology |
Authors: | Xu WY, Author ; Zhu H ; Shen Y ; Wan YH ; Tu XD ; Wu WT ; Tang L ; Zhang HX ; Lu SY ; Jin XL ; Fei J ; Wang ZG |
Material Type: | Article |
Publication Date: | 16/04/2018 |
Languages: | English |
Keywords : | Charcot-Marie-Tooth disease ; Charcot-Marie-Tooth mouse ; CMT2Q ; EGR2 factor ; gène DHTKD1 ; genetic mutations ; insulin ; metabolic diseases ; mouse model ; myelin ; myelin protein zero ; physiopathology |
Keywords: | 2-aminoadipic acid;2-aminoadipic and 2-oxoadipic aciduria;Charcot-Marie-Tooth disease;DHTKD1;nerve conduction velocity; |
Pubmed / DOI : | DOI : 10.1128/MCB.00085-18 / Pubmed : 29661920 |
N° Profil MNM : | 2018042 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29661920 |