TY  -  
T1  - Alteration of the late endocytic pathway in Charcot-Marie-Tooth type 2B disease 
SN  -  /  
UR  - http://hdl.handle.net/10138/331483 
T3  -  
A1  - Romano, Roberta; Rivellini, Cristina; De Luca, Maria; Tonlorenzi, Rossana; Beli, Raffaella; Manganelli, Fiore; Nolano, Maria; Santoro, Lucio; Eskelinen, Eeva-Liisa; Previtali, Stefano C.; Bucci, Cecilia 
A2  -  
PB  -  
Y1  - 2021 
LA  - eng 
AB  - The small GTPase RAB7A regulates late stages of the endocytic pathway and plays specific roles in neurons, controlling neurotrophins trafficking and signaling, neurite outgrowth and neuronal migration. Mutations in the RAB7A gene cause the autosomal dominant Charcot-Marie-Tooth type 2B (CMT2B) disease, an axonal peripheral neuropathy. As several neurodegenerative diseases are caused by alterations of endocytosis, we investigated whether CMT2B-causing mutations correlate with changes in this proc... 
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KW  - RAB7A; Endocytosis; Lysosome; RAC1; Migration; EGFR; MILD COGNITIVE IMPAIRMENT; GROWTH-FACTOR; RAB7 MUTATION; NUCLEOTIDE EXCHANGE; PLASMA-MEMBRANE; EARLY ENDOSOME; UP-REGULATION; CATHEPSIN-D; PROTEINS; NEURONS; 1182 Biochemistry, cell and molecular biology 
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ER  -