Publications by authors named "Jacob Forstrom"
Dystonia is the 3 most common movement disorder. Dystonia is acquired through either injury or genetic mutations, with poorly understood molecular and cellular mechanisms. Eukaryotic initiation factor alpha (eIF2α) controls cell state including neuronal plasticity via protein translation control and expression of ATF4.
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- * 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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