Investigation of the Translational Dynamics of thte ALS Associated Protein Ataxin-2 poster.
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Student: Steven Decker

Level: Undergraduate
Major: Biology
Host Mentor: Gene Yeo, Ph.D.
Host Institution: Cellular and Molecular Medicine, Sanford Consortium for Regenerative Medicine
Date: 2021

 

Abstract

Studied the role of ataxin-2 in motor neuron degeneration. Ataxin-2 (ATXN2) is a ubiquitously expressed RNA-binding protein (RBP) conserved across eukaryotic species from yeast to human. A trinucleotide (CAG) repeat expansion mutations of the poly-glutamine (polyQ) tract of the ATXN2 gene are associated with several neurodegenerative diseases including spinocerebellar ataxia 2 (SCA2) and amyotrophic lateral sclerosis (ALS), a fatal adult-onset disorder characterized by the progressive death of motor neurons of the brain and spinal cord. Steven was involved in efforts to generate and characterize human iPSC lines that have been engineered to contain CAG-expanded ATXN2 mutations, using cutting-edge techniques such as designing and performing CRISPR/Cas9 genome editing in stem cells to better understand the roles of polyQ sequences in neuronal function and disease.

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