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- All Subjects: Neuroscience
- Creators: School of Molecular Sciences
- Creators: Daliri, Ayoub
- Member of: Theses and Dissertations
- Resource Type: Text
Okur-Chung Neurodevelopmental syndrome (OCNDS) is a rare disorder characterized by hypotonia, developmental delay, dysmorphic features, and more. It is caused by pathogenic variants on CSNK2A1, the α subunit of protein kinase CK2. CK2 is considered a master regulator involved in many cell functions from cell differentiation and proliferation to apoptosis. Here, we create a potential zebrafish model of OCNDS with CK2 inhibition and characterize fibroblast cells with, K198R, D156E, and R47G variants of CSNK2A1. RNAseq results display a wide range of effects notably in the Myosin Protein superfamily, Insulin-like Growth Factor family, and in proteins related to mitochondrial function and cell metabolism. Factors in cell growth and metabolism across the nervous system and neuromuscular interactions appear to be most affected with similarities in markers to oncogenic states in some cases.
stimuli played prior to the onset of speech production. In this experiment, we are examining the
specificity of the auditory stimulus by implementing congruent and incongruent speech sounds in
addition to non-speech sound. Electroencephalography (EEG) data was recorded for eleven adult
subjects in both speaking (speech planning) and silent reading (no speech planning) conditions.
Data analysis was accomplished manually as well as via generation of a MATLAB code to
combine data sets and calculate auditory modulation (suppression). Results of the P200
modulation showed that modulation was larger for incongruent stimuli than congruent stimuli.
However, this was not the case for the N100 modulation. The data for pure tone could not be
analyzed because the intensity of this stimulus was substantially lower than that of the speech
stimuli. Overall, the results indicated that the P200 component plays a significant role in
processing stimuli and determining the relevance of stimuli; this result is consistent with role of
P200 component in high-level analysis of speech and perceptual processing. This experiment is
ongoing, and we hope to obtain data from more subjects to support the current findings.