Table 1. Translationally down-regulated genes during acute Tm treatment with restored regulation during Tm + ISRIB treatment.
| Gene Name | Relevant Description |
|---|---|
| POMGNT1& | Participates in O-mannosyl glycosylation. Mutations have been associated with muscle-eye-brain diseases and congenital muscular dystrophies. Expressed especially in astrocytes, as well as in immature and mature neurons. Expressed across brain. |
| RPL27*& | Subunit of ribosome catalyzing protein synthesis. Expressed in cerebral cortex in embryonic tissue and/or stem cells. Mutations associated with Diamond-Blackfan Anemia 16, a metabolic disease, which may present with microcephaly. |
| TKT*& | Encodes thiamine-dependent enzyme that channels excess sugars phosphates to glycolysis. Mutations associated with developmental delays and Wernicke-Korsakoff Syndrome, a metabolic and neuronal disease and associated with encephalopathy and dementia-like characteristics. |
| HSPA8*& | Encodes heat shock protein 70 member. Facilitates protein folding and localization. Diseases associated with mutations include Auditory System Disease and Brain Ischemia, both neurological disorders. Expressed in cerebral cortex in embryonic tissue and/or stem cells. |
| NDUFA11& | Encodes subunit of mitochondrial complex I, a vital component of the electron transport chain. Mutations are associated with severe mitochondrial complex I deficiency. Related pathways include the GABAergic synapse. Associated diseases include brain atrophy, encephalopathy, and leber hereditary optic neuropathy. Overexpressed in frontal cortex. |
| HIST2H3D | Responsible for nucleosome structure. No neurological phenotypes currently annotated. |
| RPS15A* | Subunit of ribosome catalyzing protein synthesis. Diseases associated include Diamond-Blackfan Anemia, an inborn error of metabolism disease. |
Gene names succeeded by an asterisk (*) indicate these genes were identified in the original data when re-analyzed with DESeq2 [68]. Gene names succeeded by an ampersand (&) indicate genes with strong neurological phenotype annotations. None of these genes were present in the original analysis tables.