Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

  title={Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS},
  author={Mercedes Prudencio and Veronique Belzil and Ranjan Batra and Christian A. Ross and Tania F. Gendron and Luc Pregent and Melissa E. Murray and Karen K Overstreet and Amelia E Piazza-Johnston and Pamela Desaro and Kevin F. Bieniek and Michael A Deture and Wing Cheung Lee and Sherri M Biendarra and Mary Amiti Donald R. Davis and Matthew C. Baker and Ralph B. Perkerson and Marka van Blitterswijk and Caroline T. Stetler and Rosa Rademakers and Christopher D Link and Dennis W. Dickson and Kevin B. Boylan and Hu Li and Leonard Petrucelli},
  journal={Nature Neuroscience},
Increasing evidence suggests that defective RNA processing contributes to the development of amyotrophic lateral sclerosis (ALS). This may be especially true for ALS caused by a repeat expansion in C9orf72 (c9ALS), in which the accumulation of RNA foci and dipeptide-repeat proteins are expected to modify RNA metabolism. We report extensive alternative splicing (AS) and alternative polyadenylation (APA) defects in the cerebellum of c9ALS subjects (8,224 AS and 1,437 APA), including changes in… CONTINUE READING
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Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS

M Yamakawa
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