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Emily Bergbower

Class 2011
Education BA, Bryn Mawr College
Email ebergbo1@jhmi.edu
Mentor

Dr. Bill Guggino

Current Position Medical School
Location

University of Maryland Medical School

Research Interests

My dissertation is focused on elucidating the cellular and molecular mechanism of regulatory pathways governing deltaF508-CFTR. The deltaF508 mutation is the most common mutation among CF (Cystic Fibrosis) patients. Approximately 90% of the total patient population carry one copy and 50% are homozygous. The mutation is characterized by a misfolded CFTR protein which is degraded early on by the proteasome. My particular interest lies with the CAL (CFTR-Associated Ligand) protein, a PDZ domain containing protein that is critical for WT-CFTR trafficking and may play an important role in deltaF508-CFTR regulation. Data has shown that knockdown of the CAL protein can alter trafficking and maturation of deltaF508-CFTR. Our goal is to investigate the effects of CAL on deltaF508-CFTR, and elucidate the mechanism by which it regulated deltaF508-CFTR surface expression.

Publications

 

 

  • Rudin CM, Durinck S, Stawiski EW, Poirier JT, Modrusan Z, Shames DS, Bergbower EA, Guan Y, Shin J, Guillory J, Rivers CS, Foo CK, Bhatt D, Stinson J, Gnad F, Haverty PM, Gentleman R, Chaudhuri S, Janakiraman V, Jaiswal BS, Parikh C, Yuan W, Zhang Z, Koeppen H, Wu TD, Stern HM, Yauch RL, Huffman KE, Paskulin DD, Illei PB, Varella-Garcia M, Gazdar AF, de Sauvage FJ, Bourgon R, Minna JD, Brock MV, Seshagiri S. Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer. Nat Genet. 2012 Oct;44(10):1111-6.. Epub 2012 Sep 2. PMID:22941189