Here, we report the development of a long-term human cortical organoid (CO) model that closely recapitulates early molecular pathology of ALS/FTD. COs were grown up to 240 DIV at the air–liquid interface (ALI-COs) from iPSCs derived from patients with ALS/FTD, harboring theC9ORF72hexanucl...
In the S320F mutant, the sequence motif at the end of repeat 3 is pulled back to form a local hydrophobic cluster with S320F instead. The loss of the interaction with the sequence motif of repeat 3 also destabilizes the interaction of the sequence motif of repeat 2 with 306VQIVYK311. ...
Early death of a relative may be a confounder because of reports of reduced penetrance associated with the expansion, as in the report of a C9ORF72-positive family with one obligate carrier who died at age 35 years without symptoms and another obligate carrier who died at age 72 years ...
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Futhermore, enlarged mitochon- dria, with no apparent signs of matrix/cristae defects may reflect an increase in mitochondrial output [79], and would be consistent with the mitochondrial hypermetab- olism we report here. Vanderhaeghe et al. Acta Neuropathologica Communications (2024) 12:...
We report that loss-of-function mutations in alfa-1, the Caenorhabditis elegans ortholog of C9orf72, cause a novel phenotypic defect: endocytosed yolk is abnormally released into the extra-embryonic space, resulting in refractile “blobs.” The alfa-1 blob phenotype is partially rescued by the...
These DPR can form aggregates in ALS/FTD tissue. Of these, GR dipeptides have been consistently shown to be toxic in Drosophila with GA showing mild effects, and GP no toxicity [16, 36]. To determine if Ref1 knockdown effected GR protein levels, we utilized a Drosophila transgenic line ...
These DPR can form aggregates in ALS/FTD tissue. Of these, GR dipeptides have been consistently shown to be toxic in Drosophila with GA showing mild effects, and GP no toxicity [16, 36]. To determine if Ref1 knockdown effected GR protein levels, we utilized a Drosophila transgenic line ...
The occurrence of repeat-associated non-ATG (RAN) translation, an atypical form of translation of expanded repeats that results in the synthesis of homopol
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