Functional Study of HTRA1 and Age-related Macular Degeneration
Principal Investigator
Project Goals
Identification and functional studies of the HTRA1, a gene that has substantial impact on the risk of AMD, may define key molecular pathways involved in its pathogenesis. The experiments will yield novel mechanistic insights relevant to the pathogenesis of both early and late AMD. This may lead to therapies directed at the underlying cause and pre-symptomatic diagnosis leading to earlier intervention.
Project Summary
Identification and functional studies of the HTRA1, a gene that has substantial impact on the risk of AMD, may define key molecular pathways involved in its pathogenesis. The experiments will yield novel mechanistic insights relevant to the pathogenesis of both early and late AMD. This may lead to therapies directed at the underlying cause and pre-symptomatic diagnosis leading to earlier intervention.
Publications
Yang Z, Chen Y, Lillo C, Chien J, Yu Z, Michaelides M, Klein M, Howes KA, Li Y, Kaminoh Y, Chen H, Zhao C, Chen Y, Al-Sheikh YT, Karan G, Corbeil D, Escher P, Kamaya S, Li C, Johnson S, Frederick JM, Zhao Y, Wang C, Cameron DJ, Huttner WB, Schorderet DF, Munier FL, Moore AT, Birch DG, Baehr W, Hunt DM, Williams DS, Zhang K. (2008) Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. J Clin Invest. 2008 Aug;118(8):2908-16. 
Yang Z, Stratton C, Francis PJ, Kleinman ME, Tan PL, Gibbs D, Tong Z, Chen H, Constantine R, Yang X, Chen Y, Zeng J, Davey L, Ma X, Hau VS, Wang C, Harmon J, Buehler J, Pearson E, Patel S, Kaminoh Y, Watkins S, Luo L, Zabriskie NA, Bernstein PS, Cho W, Schwager A, Hinton DR, Klein ML, Hamon SC, Simmons E, Yu B, Campochiaro B, Sunness JS, Campochiaro P, Jorde L, Parmigiani G, Zack DJ, Katsanis N, Ambati J, Zhang K. Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. N Engl J Med. 2008 Oct 2;359(14):1456-63. Epub 2008 Aug 27.
Yang Z, Tong Z, Chen Y, Zeng J, Lu F, Sun X, Zhao C, Wang K, Davey L, Chen H, London N, Muramatsu D, Salasar F, Carmona R, Kasuga D, Wang X, Bedell M, Dixie M, Zhao P, Yang R, Gibbs D, Liu X, Li Y, Li C, Li Y, Campochiaro B, Constantine R, Zack DJ, Campochiaro P, Fu Y, Li DY, Katsanis N, Zhang K. Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. PLoS Genet. 2010 Feb 5;6(2):e1000836.
First published on: June 11, 2008
Last modified on: December 04, 2024