Widespread intron retention impairs protein homeostasis in C9orf72 ALS brains

Table 1.

Patient sample information

Sample RNA-seq ID Sex Clinical diagnosis Age at death Disease duration % Insoluble hnRNPH Group
C91 CGND HRA 00714 F ALS 64 1–1.5 yr 87.2 C9high
C92 CGND HRA 00728 F ALS 64 0.5 yr 56 C9low
C93 CGND HRA 00715 F ALS 58 1–1.5 yr 94.7 C9high
C94 CGND HRA 00730 M ALS-FTD 60 0.5–1 yr 41.3 C9low
C95 CGND HRA 00729 F ALS 65 7–7.5 yr 89.2 C9high
C96 CGND HRA 00716 M ALS 73 4.5 yr 37.2 C9low
C98 CGND HRA 00726 M ALS 59 1 yr 81.8 C9high
C99 CGND HRA 00718 M ALS 70 <2 yr 15.8 C9low
C910 CGND HRA 00453 F FTD 75 9 yr 95.3 C9high
C911 CGND HRA 00719 M ALS-FTD 73 2 yr 89.5 C9high
C912 CGND HRA 00720 F ALS 57 1 yr 33.2 C9low
C913 CGND HRA 00713 F ALS-FTD 68 6 yr 27 C9low
C916 CGND HRA 00707 F ALS-FTD 68 6 yr 40.3 C9low
non6 CGND HRA 00206 F Non-neurological control 54 n/a n/a Control
non9 CGND HRA 00721 F Non-neurological control 90+ n/a n/a Control
non10 CGND HRA 00077 F Non-neurological control 90+ n/a n/a Control
non11 CGND HRA 00197 F Non-neurological control 70 n/a n/a Control
non12 CGND HRA 00196 F Non-neurological control 52 n/a n/a Control
non13 CGND HRA 00753 M Non-neurological control 89 n/a n/a Control

This Article

  1. Published in Advance October 14, 2020, doi: 10.1101/gr.265298.120 Genome Res. 30: 1705-1715

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