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The analysis of transcriptional profiles of cybrid cells harbouring two pathogenic mtDNA variants associated with Leigh syndrome i.e., m.9185T>C in the mt-ATP6 gene and m.13513G>A in the mt-ND5 gene, in comparison to cybrid cells harbouring control mtDNA haplogroups or the wt m.13513G variant.
ORGANISM(S): Homo sapiens 
Nuclear depletion and cytoplasmic aggregation of the RNA-binding protein TDP-43 is the hallmark of ALS, occurring in over 97% of cases. A key consequence of TDP-43 nuclear loss is the de-repression of cryptic exons. Motor neurons are the vulnerable cell-type in ALS and cryptic exons show variability...
ORGANISM(S): Homo sapiens 
Pannexin 1 (PANX1) interacting proteins were identified from mouse Neuro2a cells in the Swayne Lab at the University of Victoria. Proteins co-precipitating with PANX1EGFP or EGFP control were identified by the University of Victoria Genome BC Proteomics Centre. Sample Processing and Data Processin...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2023-10-04 | MSV000093036 | MassIVE
TDP-43 knockdown produces aberrant NMD-sensitive cryptic exons. To discover where TDP-43 cryptic exons were localized and which were sensitive to NMD-inhibition, we performed cellular fractionation as well and NMD-inhibition with TDP-43 KD
ORGANISM(S): Homo sapiens 
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