Open Access. Powered by Scholars. Published by Universities.®
Articles 1 - 1 of 1
Full-Text Articles in Life Sciences
Identifying The Effects Of A Human Dynein Mutation On Gfp-Rab7 Axonal Transport In Embryonic Mouse Neurons, Natalie E. Wilson
Identifying The Effects Of A Human Dynein Mutation On Gfp-Rab7 Axonal Transport In Embryonic Mouse Neurons, Natalie E. Wilson
Honors Undergraduate Theses
The first dynein mutation found in humans that caused disease was a cytoplasmic dynein 1 heavy chain (DYNC1H1 in humans) p.His306Arg mutation, first described by Weedon et al. in 2011. This mutation caused Charcot-Marie-Tooth (CMT) subtype 2O. CMT has a prevalence of approximately 1 in 2500 people, making it the most common hereditary neuromuscular disorder. Cytoplasmic dynein 1 is used by eukaryotic cells for minus-end directed microtubule-based transport of cargo. One such cargo is Rab7, a late endosomal marker. The purpose of this study is to identify the effects of this mutation on the transport of GFP-tagged Rab7 cargo in …