Selected Publications

SELECTED PUBLICATIONS, 1980-PRESENT

• Esteve-Rudd J, Hazim RA, Diemer T, Paniagua AE, Volland S, Umapathy A, Williams DS:
  Defective phagosome motility and degradation in cell non-autonomous RPE pathogenesis of a dominant macular degeneration.
  Proceedings of the National Academy of Sciences, 115:5468-5473, 2018.
  http://www.ncbi.nlm.nih.gov/pubmed/29735674 PMID:  29735674

• Volland S, Hughes LC, Kong C, Burgess BL, Linberg KA, Luna G, Zhou ZH, Fisher SK, and Williams DS:
  Three-dimensional organization of nascent rod outer segment disk membranes. 
  Proceedings of the National Academy of Sciences 112(48):14870-14875, 2015.
  http://www.ncbi.nlm.nih.gov/pubmed/26578801 PMID: 26578801
  
  
• Jiang M, Esteve-Rudd J, Lopes VS, Diemer T, Lillo C, Rump A, Williams DS: 
  Microtubule motors transport phagosomes in the RPE and lack of KLC1 leads to AMD-like pathogenesis. 
  Journal of Cell Biology 210(4):595-611, 2015.
  http://www.ncbi.nlm.nih.gov/pubmed/26261180 PMID: 26261180
  
  
• Lopes VS, Boye SE, Louie CM, Boye S, Dyka F, Chiodo V, Fofo H, Hauswirth WW, Williams DS: Retinal gene therapy with a large MYO7A cDNA using Adeno-associated virus. Gene Therapy 20:824-833, 2013.  http://www.ncbi.nlm.nih.gov/pubmed/23344065 PMID: 23344065
  
  
• Trivedi D, Colin E, Louie CM, Williams DS:
  Live-cell imaging evidence for the ciliary transport of rod photoreceptor opsin by heterotrimeric kinesin-2. 
  Journal of Neuroscience 32:10587-10593, 2012. 
  http://www.ncbi.nlm.nih.gov/pubmed/22855808 PMID: 22855808
  
  
• Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Grone HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, Ayuso C, Cremers FP, den Hollander Al, Koenekoop RK, Dallapiccola B, Ghiggeri GM, Hildebrandt F, Valente EM, Williams DS, Gleeson JG:
  AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
  Nature Genetics 42:175-180, 2010.
  http://www.ncbi.nlm.nih.gov/pubmed/20081859 PMID: 20081859
  
  
• Schwander M, Lopes V, Sczaniecka A, Gibbs D, Lillo C, Delano D, Tarantino LM, Wiltshire T, Williams DS, Müller U:
  A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells.
  Journal of Neuroscience 29:15810-15818, 2009. 
  http://www.ncbi.nlm.nih.gov/pubmed/20016096 PMID: 20016096
  
  
• Williams DS, Cash A, Hamadani L, Diemer T:
  Oxaloacetate supplementation increases lifespan in Caenorhabditis elegans through an AMPK/FOXO-dependent pathway.
  Aging Cell 8:765-768, 2009.
  http://www.ncbi.nlm.nih.gov/pubmed/19793063 PMID: 19793063
  
  
• Yang Z*, Chen Y, Lillo C, Chien J, Yu Z, Michaelides M, Klein M, Howes KA, Li Y, Kaminoh Y, Chen H, Zhao C, 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*:
  Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 
  Journal of Clinical Investigation 118:2908-2916, 2008. 
  *Co-corresponding authors. 
  http://www.ncbi.nlm.nih.gov/pubmed/18654668 PMID: 18654668
  
  
• Hashimoto T, Gibbs D, Lillo C, Azarian SM, Legacki E, Zhang X-M, Yang XJ, Williams DS:
  Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B. 
  Gene Therapy 14:584-594, 2007. 
  http://www.ncbi.nlm.nih.gov/pubmed/17268537 PMID: 17268537
  
  
• Schubert D, Williams D:
  ‘Cisgenic’ as a product designation. 
  Nature Biotechnology 24:7-9, 2006.
  http://www.ncbi.nlm.nih.gov/pubmed/17093469 PMID: 17093469
  
  
• Stokin GB, Lillo C, Falzone T, Brusch RG, Rockenstein E, Mount S, Raman R, Davies P, Masliah E, Williams DS, Goldstein LSB: 
  Axonpathy and transport deficits in the pathogenesis of Alzheimer’s disease. 
  Science 307:1282-1288, 2005.
  http://www.ncbi.nlm.nih.gov/pubmed/15731448 PMID: 15731448
  
  
• Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O’Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Couck P, De Paepe A, Reinhardt R, Klages S, Ysuda M, Kawakami I, Kusakabe T, Omran H, ImmA, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F: A novel ciliary IQ domain protein, NPHP5, is mutated in Senior-Loken syndrome (Nephronophthisis with retinitis pigmentosa), and interacts with RPGR and calmodulin. 
  Nature Genetics 37:282-288, 2005.
  http://www.ncbi.nlm.nih.gov/pubmed/15723066 PMID: 15723066
  
  
• Karan G, Lillo C, Yang Z, Cameron J, Locke KG, Zhao Y, Thirumalaichary S, Li C, Birch DG, Vollmer-Sanar H, Williams DS*, Zhang K*: Lipofuscin accumulation, abnormal electrophysiology and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration. 
  Proceedings of the National Academy Sciences 102:4164-4169, 2005. 
  *Co-corresponding authors
  http://www.ncbi.nlm.nih.gov/pubmed/15749821 PMID: 15749821
  
  
• Gibbs D, Azarian SA, Lillo C, Klomp AEM, Kitamoto J, Steel KP, Libby RT, Williams DS:
  Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes. 
  Journal of Cell Science 117:6473-6483, 2004.
  http://www.ncbi.nlm.nih.gov/pubmed/15572405 PMID: 15572405
  
  
• Liu J, Lillo C, Jonsson PA, Ward CM, Subramaniam JR, Rothstein JD, Marklund S, Andersen PM, Brännström T, Wong PC, Williams DS, Cleveland DW:
  Toxicity of familial ALS-linked SOD1 mutants from selective recruitment to spinal mitochondria.
  Neuron 43:5-17, 2004.
  http://www.ncbi.nlm.nih.gov/pubmed/15233913 PMID: 15233913
  
  
• Siemens J, Lillo C, Dumont RA, Williams DS, Gillespie PG, Müller U:
  Cadherin 23 is a component of the tip link in hair cell stereocilia. 
  Nature 428:950-955, 2004.
  http://www.ncbi.nlm.nih.gov/pubmed/15057245 PMID: 15057245
  
  
• Gibbs D, Kitamoto J, Williams DS:
  Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein.
  Proceedings of the National Academy Sciences 100:6481-6486, 2003.
  http://www.ncbi.nlm.nih.gov/pubmed/12743369 PMID: 12743369
  
  
• Marszalek JR, Liu X, Roberts E, Chui D, Marth J, Williams DS, Goldstein LSB:
  Genetic evidence for a kinesin-II mediated pathway for opsin and arrestin transport in mammalian photoreceptors. 
  Cell 102:175-187, 2000.
  http://www.ncbi.nlm.nih.gov/pubmed/10943838 PMID: 10943838
  
  
• Liu X, Udovichenko, IP, Brown SDM, Steel KP, Williams DS: 
  Myosin VIIa participates in opsin transport through the photoreceptor cilium. 
  Journal of Neuroscience 19:6267-6274, 1999. 
  http://www.ncbi.nlm.nih.gov/pubmed/10414956 PMID: 10414956
  
  
• Liu X, Ondek B, Williams DS: 
  Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice.
  Nature Genetics 19:117-118, 1998. 
  http://www.ncbi.nlm.nih.gov/pubmed/9620764 PMID: 9620764
  
  
• Arikawa K, Molday LL, Molday RS, Williams DS:
  Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration. 
  Journal of Cell Biology 116:659-667, 1992. [Medline] 
  http://www.ncbi.nlm.nih.gov/pubmed/1730772 PMID: 1730772
  
  
• Arikawa K, Hicks JL, Williams DS:
  Identification of actin filaments in the rhabdomeral microvilli of Drosophila photoreceptors.
  Journal of Cell Biology 110:1993-1998, 1990. [Medline] 
  http://www.ncbi.nlm.nih.gov/pubmed/2112548 PMID: 2112548
  
  
• Williams DS:
  Photoreceptor membrane shedding and assembly can be initiated locally within an insect eye.
  Science 218:898-900 (plus front cover), 1982. [Medline] 
  http://www.ncbi.nlm.nih.gov/pubmed/7134980 PMID: 7134980
  
  
• Williams DS, McIntyre P:
  The principal eyes of a jumping spider have a telephoto component.
  Nature 288:578-580, 1980.
  http://www.nature.com/nature/journal/v288/n5791/abs/288578a0.html