TY  -  
T1  - Molecular mechanisms of CharcotMarie-Tooth neuropathy linked to mutations in human myelin protein P2 
SN  -  /  
UR  - http://hdl.handle.net/10138/215227 
T3  -  
A1  - Ruskamo, Salla; Nieminen, Tuomo; Kristiansen, Cecilie K.; Vatne, Guro H.; Baumann, Anne; Hallin, Erik I.; Raasakka, Arne; Joensuu, Paivi; Bergmann, Ulrich; Vattulainen, Ilpo; Kursula, Petri 
A2  -  
PB  -  
Y1  - 2017 
LA  - eng 
AB  - Charcot-Marie-Tooth (CMT) disease is one of the most common inherited neuropathies. Recently, three CMT1-associated point mutations (I43N, T51P, and I52T) were discovered in the abundant peripheral myelin protein P2. These mutations trigger abnormal myelin structure, leading to reduced nerve conduction velocity, muscle weakness, and distal limb atrophy. P2 is a myelin-specific protein expressed by Schwann cells that binds to fatty acids and membranes, contributing to peripheral myelin lipid home... 
VO  -  
IS  -  
SP  -  
OP  -  
KW  - ACID-BINDING PROTEIN; FATTY-ACID; MEMBRANE-PROTEIN; INTERNAL WATER; SCHWANN-CELLS; DISEASE; LIGAND; DIFFRACTION; CRYSTALLIZATION; SIMULATIONS; 217 Medical engineering; 3121 General medicine, internal medicine and other clinical medicine 
N1  -   
PP  -  
ER  -