Education & Training
- B.S.-University of Tartu, Estonia, Developmental Biology
- M.S.-University of Tartu, Estonia, Developmental Biology
- Ph.D.-Medical University of Hannover, Germany, Molecular Biology
Research Interest Summary
Research Categories
Research Interests
Nephronophthisis (NPHP) is an autosomal recessive chronic kidney disease, characterized by tubulointerstitial fibrosis, tubular basement membrane disruption and kidney cysts. Renal fibrosis is the primary determinant of end-stage kidney disease. The pathomechanisms underlying NPHP are only poorly understood. Although, long considered as a “ciliopathy”, caused by a dysfunction in cilia, recent gene identification in humans has linked the pathogenesis of NPHP to defective DNA damage response signaling, resulting in genome instability and cell cycle defects. To study the disease mechanisms of nephronophthisis and to understand the cellular and molecular mechanisms of DNA damage response in the renal pathology of NPHP we have generated knock-out mouse models of the human condition. Besides the mouse models we employ primary and secondary cell culture models of NPHP to interrogate the disease mechanisms.
Representative Publications
Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, Conte J, Lopez I, Washburn J, Macdonald J, Hu J, Yamashita Y, Maher ER, Guay-Woodford LM, Neumann HP, Obermüller N, Koenekoop RK, Bergmann C, Bei X, Lewis RA, Katsanis N, Lopes V, Williams DS, Lyons RH, Dang CV, Brito DA, Dias MB, Zhang X, Cavalcoli JD, Nürnberg G, Nürnberg P, Pierce EA, Jackson PK, Antignac C, Saunier S, Roepman R, Dollfus H, Khanna H, Hildebrandt F. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet 42:840-850, 2010.
Chaki M*, Airik R*, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Červenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJF, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Ysunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Joles JA, Janssen S, Allen SJ, Natarajan S, O’Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Omran H, Lee E, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA and Friedhelm Hildebrandt. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 150:533-548, 2012 *Co-first authors.
Airik R, Slaats G, Guo Z, Weiss AC, Khan N, Ghosh A, Hurd T, Bekker-Jensen S, Schrøder J, Elledge S, Andersen J, Kispert A, Castelli M, Boletta A, Giles R, Hildebrandt F. Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling. JASN 25:2573-2583, 2014.
Insolera R, Shao W, Airik R, Hildebrandt F, Shi SH. SDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex. Neuron 83:805-822, 2014.
Airik R*, Schueler M, Airik M, Cho J, Porath JD, Mukherjee E, Sims-Lucas S, Hildebrandt F*. A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis. JASN 2016, 2016 Mar 29. ASN.2015101108. *Co-corresponding authors.
Airik R*, Schueler M, Airik M, Cho J, Ulanowicz KA, Porath JD, Hurd TW, Bekker-Jensen S, Schrøder JM, Andersen JS, Hildebrandt F*. SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling. PLoS One 2016 11(5):e0156081. *Co-corresponding authors.