Dosh Whye on Muck Rack

Dosh Whye

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Articles

Excitatory Cortical Neurons from CDKL5 Deficiency Disorder Patient-Derived Organoids Show Early Hyperexcitability Not Identified in Neurogenin2 Induced Neurons

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By Madison R. Glass, Dosh Whye, Nickesha C. Anderson
| biorxiv.org
Abstract CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy resulting from variants in cyclin-dependent kinase-like 5 (CDKL5) that lead to impaired kinase activity or loss of function. CDD is one of the most common genetic etiologies identified in epilepsy cohorts.
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High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia | Nature Communications

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By Wardiya Afshar Saber, Marvin Ziegler, Alexandra Davies, Darius Ebrahimi-Fakhari, Hellen Jumo, Dosh Whye, Elizabeth D. Buttermore
| Nature Verified
Abstract Unbiased phenotypic screens in patient-relevant disease models offer the potential to detect therapeutic targets for rare diseases. In this study, we developed a high-throughput screening assay to identify molecules that correct aberrant protein trafficking in adapter protein complex 4 (AP-4) deficiency, a rare but prototypical form of childhood-onset hereditary spastic paraplegia characterized by mislocalization of the autophagy protein ATG9A.
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