Transgenic mice overexpressing mutant TDP-43 show aberrant splicing of autism associated gene Zmynd11 prior to onset of motor symptoms
Narayanan, R.; Panwar, A.; Butler, T. J.; Cutrupi, A. N.; Kennerson, M.; Vucic, S.; Balasubramaniem, A.; Mangelsdorf, M.; Wallace, R. H.
Show abstract
Mutations in TDP-43 are known to cause Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). TDP-43 binds to and regulates splicing of several RNA including Zmynd11. Zmynd11 is a transcriptional repressor and a potential E3 ubiquitin ligase family member, known for its role in neuron and muscle differentiation. Mutations in Zmynd11 have been associated with autism with significant developmental motor delays, intellectual disability, and ataxia. Here, we show that Zmynd11 is aberrantly spliced in the brain and spinal cord of transgenic mice overexpressing a mutant human TDP-43 (A315T), and that these changes occur before the onset of motor symptoms.
Matching journals
The top 10 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43. 94%
- Progressive alterations in polysomal architecture and activation of ribosome stalling relief factors in a mouse model of Huntington's disease 93%
- A panel of TDP-43-regulated splicing events verify loss of TDP-43 function in amyotrophic lateral sclerosis brain tissue 93%
Similar papers in this journal
- Alterations in leptin signaling in Amyotrophic Lateral Sclerosis (ALS) 94%
- Transcriptional and Histone acetylation changes associated with CRE elements expose key factors governing the regulatory circuit in early stage of Huntington's disease models. 94%
- OTX2 homeoprotein functions in adult choroid plexus 92%
Similar papers in this journal
- Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice 95%
- Familial ALS/FTD-associated RNA-Binding deficient TDP-43 mutants cause neuronal and synaptic transcript dysregulation in vitro 93%
- C9orf72-associated arginine-rich dipeptide repeats induce RNA-dependent accumulation of Staufen in nucleus 92%
Similar papers in this journal
- White adipose tissue undergoes pathological dysfunction in the TDP-43A315T mouse model of amyotrophic lateral sclerosis (ALS) 94%
- Human TDP-43 overexpression in zebrafish motor neurons triggers MND-like phenotypes through gain-of-function mechanism 93%
- Neuropathology of RAN translation proteins in Fragile X-associated Tremor/Ataxia Syndrome 93%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.