Presentation Year

2018

Depreciated Participant

Elizabeth ZepedaBiological SciencesGraduate Student

College or Department

Short Description of your Research or Creative Project (700 characters or less)

ADCY5-related Dyskinesia is a rare movement disorder, with early onset in childhood and adolescence. Previous studies have linked this disease to various point mutations in the ADCY5 gene. One study has demonstrated two of these mutations cause an increase in cyclic adenosine monophosphate (cAMP). However, the molecular basis of this disease phenotype has yet to be fully understood. Our study seeks to characterize the effects of one specific point mutation, p.R418W, on cellular cAMP levels using HEK293T cells, and to determine if increased cAMP levels affect neuronal differentiation using mouse embryonic stem cells (mESCs).

Permission to Publish Work

Yes

Node ID

376

Page Classification