Table 4.
Significant T3-regulated genes at the transcriptional level found in the cerebral cortex of rodents, involved in synaptogenesis and plasticity: relationship with ASD.
| Symbola | Protein | Process | Alteration/disease |
|---|---|---|---|
| ANXA6 | Annexin A6 | Calcium-binding protein | Abnormal vesicle aggregation and fusion in the hippocampal neuron’s axon initial segment |
| ATP2B2 | Ca(2+)-ATPase | Plasma membrane calcium-ATPase | Abnormal translocation of calcium to the endoplasmic reticulum in hippocampal neurons. ASD |
| BDNF | Brain-derived neurotrophic factor | Synaptic structure, function, and plasticity. fragile X syndrome autism | Abnormal synaptic structure, function, and plasticity. Fragile X syndrome. ASD |
| CAMK4 | Calcium/calmodulin-dependent protein kinase type IV | CREB phosphorylation signaling pathway | ASD |
| CNTN4 | Contactin-4 | Cell adhesion molecule | Abnormal connectivity in the developing nervous system. ASD |
| CREB1 | cAMP-responsive element binding protein 1 | Transcription factor | Altered development. ASD |
| CREM | cAMP-responsive element modulator | Transcription factor modulating CREB | Altered development. ASD |
| EXOC7 | Exocyst complex component 7 | Rho3 signaling | Abnormal cell polarity, regulation of actin polarity and transport of exocytic vesicles |
| HAP1 | Huntingtin-associated protein 1 | Interacts with huntingtin and cytoskeletal proteins | Abnormal vesicular trafficking and organelle transport |
| HRH3 | Histamine H3 receptors | Signal transduction | Abnormal presynaptic inhibition of neurotransmitter release |
| MAPK1 | Mitogen-activated protein kinase 1 (ERK2) | CREB phosphorylation signaling pathway | ASD |
| NR4A1 | Nuclear receptor related 1 protein (NURR77) | Transcription factor | Abnormal synaptic plasticity in the hippocampus. Altered long-term potentiation. Schizophrenia |
| NRGN | Neurogranin | Calmodulin-binding protein. Component of postsynaptic density | Abnormal synaptic plasticity and long-term potentiation. Schizophrenia. ASD |
| PAFAH1B1 | Platelet-activating factor acetylhydrolase IB subunit α (Lis1) | Interacts with dynein and VLDLR | Lissencephaly. ASD |
| PICALM | Phosphatidylinositol binding clathrin assembly protein | Coated vesicles | Abnormal coated vesicles. Alzheimer’s disease |
| SLIT1, SLIT2 | Slit homolog 1 and 2 proteins | Extracellular matrix protein. Chemorepulsive signal | Abnormal axon guidance. Abnormal angiogenesis |
| SNAP23 | Synaptosomal-associated protein 23 | SNARE associated protein | Abnormal exocitosis |
| SNX16 | Sorting nexin 16 | Membrane associated protein | Protein sorting |
| SQSTM1 | Sequestosome-1 | Ubiquitin binding protein | Abnormal regulation of the nuclear factor kappa-B (NF-κB) signaling pathway |
| SYT2 | Synaptotagmin-2 | Synaptic vesicles docking | Abnormal exocitosis |
| SYTL5 | Synaptotagmin-like protein 5 | Synaptic vesicles docking. Marker for parvalbumin immunoreactive buttons | Abnormal exocitosis |
| TGFB2 | Transforming growth factor-β 2 | Extracellular signaling protein | Abnormal regulation of proliferation and differentiation of hippocampal granule neurons |
| VAMP4 | Vesicle-associated membrane protein 4 (synaptobrevin) | Synaptic vesicles docking | Abnormal exocitosis |
aBold shows T3-regulated genes that have been found to be abnormally expressed in autistic humans. Other genes found in autistic humans not regulated by T3 at the transcriptional level have not been included.