Publications by authors named "Jacob Forstrom"
Article Synopsis
- Dystonia is the third most common movement disorder and can be caused by injury or genetic mutations, with unclear underlying mechanisms.
- Dysregulation of eIF2α phosphorylation is observed in dystonia, and experiments using a Drosophila model revealed that altering eIF2α-P levels leads to dystonia-like movements and changes in synaptic structure.
- Long-term treatment with ISRIB to restore eIF2α-P levels improved longevity but did not enhance motor function, indicating that disrupted signaling may impact neuronal connectivity and motor circuits in dystonia.
Article Synopsis
- * New cases revealed individuals with microdeletions in AGAP1 exhibited various neurodevelopmental issues, including intellectual disability and autism, along with other physical and developmental challenges.
- * Research in fruit flies suggested that AGAP1 disruption leads to problems in cellular transport processes, increased susceptibility to stress, and highlights the interaction between genetic vulnerabilities and environmental factors in neurodevelopmental disorders.
Unlabelled: is an Arf1 GAP that regulates endolysosomal trafficking. Damaging variants have been linked to cerebral palsy and autism. We report 3 new individuals with microdeletion variants in .
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