Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43
We used cross-linking and immunoprecipitation coupled with high-throughput sequencing
to identify binding sites in 6,304 genes as the brain RNA targets for TDP-43, an RNA binding …
to identify binding sites in 6,304 genes as the brain RNA targets for TDP-43, an RNA binding …
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
… To identify novel CEs promoted by TDP-43 depletion, we performed RNA sequencing (RNA-seq)
on human induced pluripotent stem (iPS) cell-derived cortical-like i 3 Neurons, in which …
on human induced pluripotent stem (iPS) cell-derived cortical-like i 3 Neurons, in which …
Characterizing the RNA targets and position-dependent splicing regulation by TDP-43
… the RNAs that were bound by TDP-43 in healthy brain tissue and that from subjects with
FTLD with TDP-43 inclusions (FTLD-TDP). Although this was the first study of protein-RNA …
FTLD with TDP-43 inclusions (FTLD-TDP). Although this was the first study of protein-RNA …
Loss of nuclear TDP‐43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in …
JR Highley, J Kirby, JA Jansweijer… - Neuropathology and …, 2014 - Wiley Online Library
… Loss of nuclear TDP ‐43 characterizes sporadic and most familial forms … TDP ‐43 (encoded
by TARDBP ) has multiple roles in RNA processing. We aimed to determine whether (1) RNA …
by TARDBP ) has multiple roles in RNA processing. We aimed to determine whether (1) RNA …
Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTD
… identify de novo cryptic peptides caused by RNA mis-splicing in TDP-43-depleted human
iPSC-derived neurons. (B) Proteogenomic analysis of TDP-43-depleted human iPSC-derived …
iPSC-derived neurons. (B) Proteogenomic analysis of TDP-43-depleted human iPSC-derived …
RNA mis-splicing in disease
MM Scotti, MS Swanson - Nature Reviews Genetics, 2016 - nature.com
… of a vast RNA population that … Indeed, RNA mis-splicing underlies a growing number of
human diseases with substantial societal consequences. Here, we provide an overview of RNA …
human diseases with substantial societal consequences. Here, we provide an overview of RNA …
Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43
PJ Lukavsky, D Daujotyte, JR Tollervey, J Ule… - Nature structural & …, 2013 - nature.com
… how TDP-43 recognizes UG repeats but also how RNA binding–dependent inter-RRM
interactions are crucial for TDP-43 … To assess how TDP-43 recognizes long single-stranded RNA …
interactions are crucial for TDP-43 … To assess how TDP-43 recognizes long single-stranded RNA …
Quantitative analysis of cryptic splicing associated with TDP-43 depletion
… RNA-binding proteins in cryptic splicing: TDP-43 and FUS. We analyzed publicly available
TDP-43 depletion RNA… 1–6 in Table 2), FUS depletion RNA-Seq datasets (1 human, 1 murine…
TDP-43 depletion RNA… 1–6 in Table 2), FUS depletion RNA-Seq datasets (1 human, 1 murine…
Regulatory role of RNA chaperone TDP-43 for RNA misfolding and repeat-associated translation in SCA31
T Ishiguro, N Sato, M Ueyama, N Fujikake, C Sellier… - Neuron, 2017 - cell.com
… 3B and 3C), indicating that the RNA-binding ability of TDP-43 is essential for its suppression
of UGGAA exp -mediated toxicity. Expression of the TDP-43 RRM mutant did not cause eye …
of UGGAA exp -mediated toxicity. Expression of the TDP-43 RRM mutant did not cause eye …
ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43
… of-function by the TDP-43 mutants for individual RNA substrates, from which we conclude
that ALS-linked mutations confer both loss- and gain-of-function properties to TDP-43, and that …
that ALS-linked mutations confer both loss- and gain-of-function properties to TDP-43, and that …