In particular, some of the most overexpressed genes like INA (internexin neuronal intermediate filament protein), ASTN (astrotactin) or NAPIL2 (nucleosome assembly protein 1-like 2) are involved in neuron development, whereas others like GABRG2 (GABA A receptor) or SYT4 (synaptotagmin IV) are involved in normal neuron functioning.
Our models include a myriad of ion channels and molecules important for normal Purkinje neuron function.
In summary, our data do not support an important role for HDAC4 in sensory neuron development or normal sensory neuron function.
Given the critical importance of IP3R1 on the sER in normal Purkinje neuron function, reduced volume fraction of spine sER could contribute to the pathophysiology of IP3R1-associated ataxia.
This shortened isoform of SMN protein does not oligomerize efficiently and is rapidly degraded 6, 7 resulting in reduced SMN protein levels insufficient for normal motor neuron function and survival.
We show that adjusting IP3R1 sensitivity to IP3, using peptides resembling the C-terminal of IP3R1, could potentially stabilize calcium, without altering fine-tuning of supralinear calcium release required for normal Purkinje neuron function and long term-depression.
The down-regulation of their genes (Olig1 and Nkx6-2) compared to the un-injured state also suggests a role for these in the maintenance of normal motor neuron function and identity.
Therefore, C. elegans beta-G spectrin is required for normal muscle and neuron function, but is dispensable for embryonic elongation and establishment of early epithelial polarity.
Whether Vps34 inhibitors have potential for use in immune-mediated diseases remains to be explored: germ-line loss of Vps34 is embryonically lethal, and tissue specific deletion found a critical role for Vps34 in normal neuron, heart and liver function [ 78].
The abnormal on-transient but normal photoreceptor component obtained with the dOpa1+/− Drosophila suggest that photorecptor function is normal but either laminar neuron function or synaptic transmission between the photoreceptor and the laminar neuron is impaired.
