Anna Pluciennik, PhD
Assistant Professor
Contact Information
Assistant Professor
Research & Clinical Interests
We are interested in the molecular mechanisms of spinal and bulbar muscular atrophy (SBMA), a slowly progressing neuromuscular disease caused by CAG repeat-encoded polyglutamine expansion in the androgen receptor (AR). Our work employs a combination of biochemistry, cell biology, imaging, and cutting-edge proteomic approaches to understand protein misfolding/aggregation, and its role in SBMA pathogenesis. A particular emphasis of this research is the identification of novel disease modifiers that could be targeted by small molecules for amelioration of disease progression.
My long-term research interests also include understanding the molecular pathways that mediate the pathology of neurodegenerative disorders and cancer, with a focus on DNA repair processes in the central nervous system (CNS), and the effect of aging on these activities. In light of the aging population, and the fact that several neurodegenerative diseases preferentially afflict older individuals, an understanding of the mechanisms underlying age-dependent alteration of DNA repair capability, and the accumulation of DNA damage and/or mutations (as well as the pathological consequences thereof) is important to public health.
Education
PhD, University of Lodz, Poland - 1997
Fellowship
Postdoctoral Research Associate, Duke University Medical Center, Durham, NC - 2006
Postdoctoral Research Associate, Texas A&M University Health Science Center, Houston, TX – 2001
Most Recent Peer-Reviewed Publications
- FAN1 removes triplet repeat extrusions via a PCNA- and RFC-dependent mechanism
- The role of ubiquitination in spinal and bulbar muscular atrophy
- Deubiquitinase USP7 contributes to the pathogenicity of spinal and bulbar muscular atrophy
- DNA Mismatch Repair and its Role in Huntington's Disease
- Impaired Nuclear Export of Polyglutamine-Expanded Androgen Receptor in Spinal and Bulbar Muscular Atrophy