RNA binding proteins:a common denominator of neuronal function and dysfunction  

作　　者：Epaminondas Doxakis 

机构地区：[1]Laboratory of Molecular and Cellular Neuroscience,Center of Basic Neuroscience,Biomedical Research Foundation of the Academy of Athens Soranou Efesiou 4,Athens 11527,Greece

出　　处：《Neuroscience Bulletin》2014年第4期610-626,共17页神经科学通报（英文版）

基　　金：funded by grants from the Greek General Secretariat for Research and Development,Ministry of Education

摘　　要：In eukaryotic cells, gene activity is not directly reflected by protein levels because mRNA processing, transport, stability, and translation are co- and post-transcriptionally regulated. These processes, collectively known as the ribonome, are tightly controlled and carried out by a plethora of trans-acting RNA-binding proteins （RBPs） that bind to specific cis elements throughout the RNA sequence. Within the nervous system, the role of RBPs in brain function turns out to be essential due to the architectural complexity of neurons exemplified by a relatively small somal size and an extensive network of projections and connections, Thus far, RBPs have been shown to be indispensable for several aspects of neurogenesis, neurite outgrowth, synapse formation, and plasticity. Consequently, perturbation of their function is central in the etiology of an ever-growing spectrum of neurological diseases, including fragile X syndrome and the neurodegenerative disorders frontotemporal lobar degeneration and amyotrophic lateral sclerosis.In eukaryotic cells, gene activity is not directly reflected by protein levels because mRNA processing, transport, stability, and translation are co- and post-transcriptionally regulated. These processes, collectively known as the ribonome, are tightly controlled and carried out by a plethora of trans-acting RNA-binding proteins （RBPs） that bind to specific cis elements throughout the RNA sequence. Within the nervous system, the role of RBPs in brain function turns out to be essential due to the architectural complexity of neurons exemplified by a relatively small somal size and an extensive network of projections and connections, Thus far, RBPs have been shown to be indispensable for several aspects of neurogenesis, neurite outgrowth, synapse formation, and plasticity. Consequently, perturbation of their function is central in the etiology of an ever-growing spectrum of neurological diseases, including fragile X syndrome and the neurodegenerative disorders frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

关 键 词：alternative polyadenylation CPEB ELAV fragile X syndrome FMRPalternative splicing amyotrophicFUS HU HuB HuC HuD HuR lateral sclerosis anti-Hu syndromeneuron neurodegeneration Nova-1Nova-2 paraneoplastic opsoclonus-myoclonus ataxia PTBP-2 PTBP-1 TDP-43 FTLD 

分 类 号：R741[医药卫生—神经病学与精神病学]