Vollrath Lab

Department of Genetics, Stanford School of Medicine


Selected Publications

Discovery of a requirement for MERTK in mammalian retinal homeostasis

  1. D’Cruz PM, Yasumura D, Weir J, Matthes M, Abderrahim H, LaVail MM, Vollrath D. Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat. Hum. Molec. Genet. 9:645-652, 2000.
  2. Gal A, Li Y, Thompson DA, Weir J, Orth U, Jacobson SG, Apfelstedt-Sylla E, Vollrath D. Mutations in MERTK, the human ortholog of the RCS retinal dystrophy gene, cause retinitis pigmentosa. Nature Genet. 26:270-271, 2000.
  3. Duncan JL, LaVail MM, Yasumura D, Matthes MT, Yang H, Trautmann N, Chappelow AV, Feng W, Earp HS, Matsushima GL, Vollrath D. An RCS-Like retinal dystrophy phenotype in Mer knockout mice. Invest. Ophthalmol. Vis. Sci. 44:826-838, 2003.
  4. McHenry CL, Liu Y, Feng, W, Nair AR, Feathers KL, Ding X, Gal A, Vollrath D, Sieving PA, Thompson DA. MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells. Invest. Ophthalmol. Vis. Sci. 45:1456-1463, 2004.
  5. Maddox DM, Hicks WL, Vollrath D, LaVail MM, Naggert JK, Nishina PM. An ENU induced mutation in the Mertk gene (Mertknmf12) leads to a slow form of retinal degeneration. Invest. Ophthalmol. Vis. Sci. 52:4703-4709, 2011.

Elucidating mechanisms of TAM receptor function in RPE phagocytosis

  1. Feng W, Yasumura D, Matthes MT, LaVail MM, Vollrath D. MERTK triggers uptake of photoreceptor outer segments during phagocytosis by cultured retinal pigment epithelial cells. J. Biol. Chem. 277:17016-17022, 2002.
  2. Strick DJ, Feng W, Vollrath D. MERTK drives myosin II redistribution during retinal pigment epithelium phagocytosis. Invest. Ophthalmol. Vis. Sci. 50:2427–2435, 2009.
  3. Strick DJ and Vollrath D. Focus on molecules: MERTK. Exp. Eye Res. 91:786-787, 2010
  4. Vollrath D, Yasumura D, Benchorin G, Matthes MT, Feng W, Nguyen NM, Sedano CD, Calton MA, LaVail MM. Tyro3 modulates Mertk-associated retinal degenerationPLoS Genet 11(12): e1005723. doi:10.1371/journal.pgen.1005723, 2015.

Preclinical gene therapy for Mertk-associated photoreceptor degeneration

  1. Vollrath D, Feng W, Duncan J, Yasumura D, D’Cruz PM, Chappelow A, Matthes MT, Kay MA, LaVail, MM. Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk. Proc. Natl. Acad. Sci. USA (track II) 98:12584-12589, 2001.
  2. Deng WT, Dinculescu A, Li Q, Boye SL, Li J, Gorbatyuk MS, Pang J, Chiodo VA, Matthes MT, Yasumura D, Liu L, Alkuraya FS, Zhang K, Vollrath D, LaVail MM, Hauswirth WW. Tyrosine-mutant AAV8 delivery of human MERTK provides long-term retinal preservation in RCS Rats. Invest. Ophthalmol. Vis. Sci. 53:1895-1904, 2012.
  3. LaVail MM, Yasumura D, Matthes MT, Yang H, Hauswirth WW, Deng WT, Vollrath D. Gene therapy for MERTK-associated retinal degenerations. Adv. Exp. Med. Biol. 854:487-493, 2016.

Probing the relationship between RPE cellular energy metabolism and cell phenotype

  1. Zhao C, Yasumura D, Li X, Matthes M, Lloyd M, Nielsen G, Ahern K, Snyder M, Bok D, Dunaief JL, LaVail MM, Vollrath D. mTOR-mediated dedifferentiation of the retinal pigment epithelium initiates photoreceptor degeneration in mice. Clin. Invest. 121:369-383, 2011.
  2. Iacovelli J, Zhao C, Wolkow N, Veldman P, Gollomp K, Ojha P, Lukinova N, King A, Feiner L, Esumi N, Zack DJ, Pierce E, Vollrath D, Dunaief JL. Generation of cre transgenic mice with postnatal RPE-specific ocular expression. Invest. Ophthalmol. Vis. Sci. 52:1378-1383, 2011.
  3. Zhao C and Vollrath D. mTOR pathway activation in age-related retinal disease. Aging 3:346-347, 2011.
  4. Calton MA and Vollrath D. The mTOR kinase inhibitor INK128 blunts migration of cultured retinal pigment epithelial cells. Adv. Exp. Med. Biol. 854:709-715, 2016.