TY  -  
T1  - Alterations of autophagy in the peripheral neuropathy Charcot-Marie-Tooth type 2B 
SN  -  /  
UR  - http://hdl.handle.net/10138/238488 
T3  -  
A1  - Colecchia, D; Stasi, M; Leonardi, M; Manganelli, F; Nolano, M; Veneziani, BM; Santoro, L; Eskelinen, Eeva-Liisa; Chiariello, M; Bucci, Cecilia 
A2  -  
PB  -  
Y1  - 2018 
LA  - eng 
AB  - Charcot-Marie-Tooth type 2B (CMT2B) disease is a dominant axonal peripheral neuropathy caused by 5 mutations in the RAB7A gene, a ubiquitously expressed GTPase controlling late endocytic trafficking. In neurons, RAB7A also controls neuronal-specific processes such as NTF (neurotrophin) trafficking and signaling, neurite outgrowth and neuronal migration. Given the involvement of macroautophagy/autophagy in several neurodegenerative diseases and considering that RAB7A is fundamental for autophagos... 
VO  -  
IS  -  
SP  -  
OP  -  
KW  - 1182 Biochemistry, cell and molecular biology; autophagy; Charcot-Marie-Tooth disease; endocytosis peripheral neuropathy; RAB7; RAB7A; SPINAL-CORD-INJURY; RAB7 MUTATION; DISEASE; PROTEINS; CELLS; DEGENERATION; MATURATION; TRAFFICKING; ACTIVATION; VIMENTIN 
N1  -   
PP  -  
ER  -