Kinga Bujakowska

Current Research Projects

I am involved in a project to elucidate the pathological mechanism of one of the forms of retinal dystrophy, retinitis pigmentosa 11 (RP11), which leads to a progressive loss of vision and eventually to blindness. RP11 is a genetic disease transmitted in a dominant fashion, caused by mutations in a ubiquitously expressed splicing factor gene PRPF31 (Pre-mRNA Processing Factor 31). A unique feature present in RP11 families is partial penetrance of disease symptoms in obligate mutation carriers

Methodology

• Analysis of animal model of retinal degeneration (retinal histology, ERG, SLO), RNA interference.

Selected Publications

1. Aidoudi S, Bujakowska K, Kieffer N, Bikfalvi A.
   The CXC-chemokine CXCL4 interacts with integrins implicated in angiogenesis.
   PLoS ONE. 2008 Jul 16;3(7):e2657
   
2. Wilkie SE, Vaclavik V, Wu H, Bujakowska K, Chakarova CF, Bhattacharya SS, Warren MJ, Hunt DM.
   Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31.
   Mol Vis. 2008 Apr 18;14:683-90.
   
3. Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, Abd El-Aziz MM, Prescott de Q, Parapuram SK, Bickmore WA, Munro PM, Gal A, Hamel CP, Marigo V, Ponting CP, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS.
   Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy.
   Am J Hum Genet. 2007 Nov;81(5):1098-103. Epub 2007 Sep 26