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Spatial regulation of beta-actin translation by Src-dependent phosphorylation of ZBP1 总被引:2,自引:0,他引:2
Hüttelmaier S Zenklusen D Lederer M Dictenberg J Lorenz M Meng X Bassell GJ Condeelis J Singer RH 《Nature》2005,438(7067):512-515
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CH Wu C Fallini N Ticozzi PJ Keagle PC Sapp K Piotrowska P Lowe M Koppers D McKenna-Yasek DM Baron JE Kost P Gonzalez-Perez AD Fox J Adams F Taroni C Tiloca AL Leclerc SC Chafe D Mangroo MJ Moore JA Zitzewitz ZS Xu LH van den Berg JD Glass G Siciliano ET Cirulli DB Goldstein F Salachas V Meininger W Rossoll A Ratti C Gellera DA Bosco GJ Bassell V Silani VE Drory RH Brown JE Landers 《Nature》2012,488(7412):499-503
Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disorder resulting from motor neuron death. Approximately 10% of cases are familial (FALS), typically with a dominant inheritance mode. Despite numerous advances in recent years, nearly 50% of FALS cases have unknown genetic aetiology. Here we show that mutations within the profilin 1 (PFN1) gene can cause FALS. PFN1 is crucial for the conversion of monomeric (G)-actin to filamentous (F)-actin. Exome sequencing of two large ALS families showed different mutations within the PFN1 gene. Further sequence analysis identified 4 mutations in 7 out of 274 FALS cases. Cells expressing PFN1 mutants contain ubiquitinated, insoluble aggregates that in many cases contain the ALS-associated protein TDP-43. PFN1 mutants also display decreased bound actin levels and can inhibit axon outgrowth. Furthermore, primary motor neurons expressing mutant PFN1 display smaller growth cones with a reduced F/G-actin ratio. These observations further document that cytoskeletal pathway alterations contribute to ALS pathogenesis. 相似文献
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