David Williams

David S Williams

Professor-in-Residence, Ophthalmology, University of California Los Angeles

Professor-in-Residence, Neurobiology, University of California Los Angeles

David S. Williams, Ph.D., holds the Karl Kirchgessner Foundation Chair in Vision Science.

Education and Training

Australian National UniversityPhD04/1982Neurobiology

Awards and Honors

  • The Endre A. Balazs Prize for eye research, International Society of Eye Research, 2022.

Publications

  1. Gilmore WB, Hultgren NW, Chadha A, Barocio SB, Zhang J, Kutsyr O, Flores-Bellver M, Canto-Soler MV, Williams DS. Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B.. Vision research, 2023.
  2. Torten G, Fisher SK, Linberg KA, Luna G, Perkins G, Ellisman MH, Williams DS. Three-Dimensional Ultrastructure of the Normal Rod Photoreceptor Synapse and Degenerative Changes Induced by Retinal Detachment.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2023.
  3. Ellis EM, Paniagua AE, Scalabrino ML, Thapa M, Rathinavelu J, Jiao Y, Williams DS, Field GD, Fain GL, Sampath AP. Cones and cone pathways remain functional in advanced retinal degeneration.. Current biology : CB, 2023.
  4. Umapathy A, Torten G, Paniagua AE, Chung J, Tomlinson M, Lim C, Williams DS. Spatiotemporal Live-Cell Analysis of Photoreceptor Outer Segment Membrane Ingestion by the Retinal Pigment Epithelium Reveals Actin-Regulated Scission.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2023.
  5. Paniagua AE, Sabharwal HS, Kethu K, Chang AW, Williams DS. Revisiting the Daily Timing of POS Phagocytosis.. Advances in experimental medicine and biology, 2023.
  6. Hazim RA, Paniagua AE, Tang L, Yang K, Kim KKO, Stiles L, Divakaruni AS, Williams DS. Vitamin B3, nicotinamide, enhances mitochondrial metabolism to promote differentiation of the retinal pigment epithelium.. The Journal of biological chemistry, 2022.
  7. Bharti K, den Hollander AI, Lakkaraju A, Sinha D, Williams DS, Finnemann SC, Bowes-Rickman C, Malek G, D'Amore PA. Cell culture models to study retinal pigment epithelium-related pathogenesis in age-related macular degeneration.. Experimental eye research, 2022.
  8. Hazim RA, Williams DS. Microtubule Motor Transport of Organelles in a Specialized Epithelium: The RPE.. Frontiers in cell and developmental biology, 2022.
  9. Ji X, Zhao L, Umapathy A, Fitzmaurice B, Wang J, Williams DS, Chang B, Naggert JK, Nishina PM. Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion.. PloS one, 2022.
  10. Kelesidis T, Madhav S, Petcherski A, Cristelle H, O'Connor E, Hultgren NW, Ritou E, Williams DS, Shirihai OS, Reddy ST. The ApoA-I mimetic peptide 4F attenuates in vitro replication of SARS-CoV-2, associated apoptosis, oxidative stress and inflammation in epithelial cells.. Virulence, 2021.
  11. Chadha A, Paniagua AE, Williams DS. Comparison of Ciliary Targeting of Two Rhodopsin-Like GPCRs: Role of C-Terminal Localization Sequences in Relation to Cilium Type.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2021.
  12. Paniagua AE, Segurado A, Dolón JF, Esteve-Rudd J, Velasco A, Williams DS, Lillo C. Key Role for CRB2 in the Maintenance of Apicobasal Polarity in Retinal Pigment Epithelial Cells.. Frontiers in cell and developmental biology, 2021.
  13. Huynh J, Baloyan D, Chisanga D, Shi W, O'Brien M, Afshar-Sterle S, Alorro M, Pang L, Williams DS, Parslow AC, Thilakasiri P, Eissmann MF, Boon L, Masson F, Chand AL, Ernst M. Host IL11 Signaling Suppresses CD4+ T cell-Mediated Antitumor Responses to Colon Cancer in Mice.. Cancer immunology research, 2021.
  14. Tang C, Han J, Dalvi S, Manian K, Winschel L, Volland S, Soto CA, Galloway CA, Spencer W, Roll M, Milliner C, Bonilha VL, Johnson TB, Latchney L, Weimer JM, Augustine EF, Mink JW, Gullapalli VK, Chung M, Williams DS, Singh R. A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor-RPE interface.. Communications biology, 2021.
  15. Hultgren NW, Fang JS, Ziegler ME, Ramirez RN, Phan DTT, Hatch MMS, Welch-Reardon KM, Paniagua AE, Kim LS, Shon NN, Williams DS, Mortazavi A, Hughes CCW. Slug regulates the Dll4-Notch-VEGFR2 axis to control endothelial cell activation and angiogenesis.. Nature communications, 2020.
  16. Jiang M, Paniagua AE, Volland S, Wang H, Balaji A, Li DG, Lopes VS, Burgess BL, Williams DS. Microtubule motor transport in the delivery of melanosomes to the actin-rich apical domain of the retinal pigment epithelium.. Journal of cell science, 2020.
  17. Segawa M, Wolf DM, Hultgren NW, Williams DS, van der Bliek AM, Shackelford DB, Liesa M, Shirihai OS. Quantification of cristae architecture reveals time-dependent characteristics of individual mitochondria.. Life science alliance, 2020.
  18. Lakkaraju A, Umapathy A, Tan LX, Daniele L, Philp NJ, Boesze-Battaglia K, Williams DS. The cell biology of the retinal pigment epithelium.. Progress in retinal and eye research, 2020.
  19. Milstein ML, Cavanaugh BL, Roussey NM, Volland S, Williams DS, Goldberg AFX. Multistep peripherin-2/rds self-assembly drives membrane curvature for outer segment disk architecture and photoreceptor viability.. Proceedings of the National Academy of Sciences of the United States of America, 2020.
  20. Daniele LL, Caughey J, Volland S, Sharp RC, Dhingra A, Williams DS, Philp NJ, Boesze-Battaglia K. Peroxisome turnover and diurnal modulation of antioxidant activity in retinal pigment epithelia utilizes microtubule-associated protein 1 light chain 3B (LC3B).. American journal of physiology. Cell physiology, 2019.
  21. Chadha A, Volland S, Baliaouri NV, Tran EM, Williams DS. The route of the visual receptor rhodopsin along the cilium.. Journal of cell science, 2019.
  22. Hazim RA, Karumbayaram S, Jiang M, Dimashkie A, Lopes VS, Li D, Burgess BL, Vijayaraj P, Alva-Ornelas JA, Zack JA, Kohn DB, Gomperts BN, Pyle AD, Lowry WE, Williams DS. Correction to: Differentiation of RPE cells from integration-free iPS cells and their cell biological characterization.. Stem cell research & therapy, 2019.
  23. Umapathy A, Williams DS. Live Imaging of Organelle Motility in RPE Flatmounts.. Advances in experimental medicine and biology, 2019.
  24. Hazim RA, Volland S, Yen A, Burgess BL, Williams DS. Rapid differentiation of the human RPE cell line, ARPE-19, induced by nicotinamide.. Experimental eye research, 2018.
  25. Esteve-Rudd J, Hazim RA, Diemer T, Paniagua AE, Volland S, Umapathy A, Williams DS. Defective phagosome motility and degradation in cell nonautonomous RPE pathogenesis of a dominant macular degeneration.. Proceedings of the National Academy of Sciences of the United States of America, 2018.
  26. Hazim RA, Williams DS. Cell Culture Analysis of the Phagocytosis of Photoreceptor Outer Segments by Primary Mouse RPE Cells.. Methods in molecular biology (Clifton, N.J.), 2018.
  27. Volland S, Williams DS. Preservation of Photoreceptor Nanostructure for Electron Tomography Using Transcardiac Perfusion Followed by High-Pressure Freezing and Freeze-Substitution.. Advances in experimental medicine and biology, 2018.
  28. Hazim RA, Karumbayaram S, Jiang M, Dimashkie A, Lopes VS, Li D, Burgess BL, Vijayaraj P, Alva-Ornelas JA, Zack JA, Kohn DB, Gomperts BN, Pyle AD, Lowry WE, Williams DS. Differentiation of RPE cells from integration-free iPS cells and their cell biological characterization.. Stem cell research & therapy, 2017.
  29. Galloway CA, Dalvi S, Hung SSC, MacDonald LA, Latchney LR, Wong RCB, Guymer RH, Mackey DA, Williams DS, Chung MM, Gamm DM, Pébay A, Hewitt AW, Singh R. Drusen in patient-derived hiPSC-RPE models of macular dystrophies.. Proceedings of the National Academy of Sciences of the United States of America, 2017.
  30. Goldberg AF, Moritz OL, Williams DS. Molecular basis for photoreceptor outer segment architecture.. Progress in retinal and eye research, 2016.
  31. Hazim R, Jiang M, Esteve-Rudd J, Diemer T, Lopes VS, Williams DS. Live-Cell Imaging of Phagosome Motility in Primary Mouse RPE Cells.. Advances in experimental medicine and biology, 2016.
  32. Volland S, Hughes LC, Kong C, Burgess BL, Linberg KA, Luna G, Zhou ZH, Fisher SK, Williams DS. Three-dimensional organization of nascent rod outer segment disk membranes.. Proceedings of the National Academy of Sciences of the United States of America, 2015.
  33. 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.. The Journal of cell biology, 2015.
  34. Volland S, Esteve-Rudd J, Hoo J, Yee C, Williams DS. A comparison of some organizational characteristics of the mouse central retina and the human macula.. PloS one, 2015.
  35. Lopes VS, Williams DS. Gene Therapy for the Retinal Degeneration of Usher Syndrome Caused by Mutations in MYO7A.. Cold Spring Harbor perspectives in medicine, 2015.
  36. Eblimit A, Nguyen TM, Chen Y, Esteve-Rudd J, Zhong H, Letteboer S, Van Reeuwijk J, Simons DL, Ding Q, Wu KM, Li Y, Van Beersum S, Moayedi Y, Xu H, Pickard P, Wang K, Gan L, Wu SM, Williams DS, Mardon G, Roepman R, Chen R. Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.. Human molecular genetics, 2014.
  37. Frost LS, Lopes VS, Bragin A, Reyes-Reveles J, Brancato J, Cohen A, Mitchell CH, Williams DS, Boesze-Battaglia K. The Contribution of Melanoregulin to Microtubule-Associated Protein 1 Light Chain 3 (LC3) Associated Phagocytosis in Retinal Pigment Epithelium.. Molecular neurobiology, 2014.
  38. Gee HY, Ashraf S, Wan X, Vega-Warner V, Esteve-Rudd J, Lovric S, Fang H, Hurd TW, Sadowski CE, Allen SJ, Otto EA, Korkmaz E, Washburn J, Levy S, Williams DS, Bakkaloglu SA, Zolotnitskaya A, Ozaltin F, Zhou W, Hildebrandt F. Mutations in EMP2 cause childhood-onset nephrotic syndrome.. American journal of human genetics, 2014.
  39. Crouse JA, Lopes VS, Sanagustin JT, Keady BT, Williams DS, Pazour GJ. Distinct functions for IFT140 and IFT20 in opsin transport.. Cytoskeleton (Hoboken, N.J.), 2014.
  40. Almenar-Queralt A, Falzone TL, Shen Z, Lillo C, Killian RL, Arreola AS, Niederst ED, Ng KS, Kim SN, Briggs SP, Williams DS, Goldstein LS. UV irradiation accelerates amyloid precursor protein (APP) processing and disrupts APP axonal transport.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2014.
  41. Lopes VS, Diemer T, Williams DS. Assessment of different virus-mediated approaches for retinal gene therapy of Usher 1B.. Advances in experimental medicine and biology, 2014.
  42. Esteve-Rudd J, Lopes VS, Jiang M, Williams DS. In vivo and in vitro monitoring of phagosome maturation in retinal pigment epithelium cells.. Advances in experimental medicine and biology, 2014.
  43. Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Böckenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.. The Journal of clinical investigation, 2013.
  44. Mei H, González S, Nakatsu MN, Baclagon ER, Lopes VS, Williams DS, Deng SX. A three-dimensional culture method to expand limbal stem/progenitor cells.. Tissue engineering. Part C, Methods, 2013.
  45. Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, Diaz KA, Olbrich H, Wolf WE, Sheridan E, Batten TF, Halbritter J, Porath JD, Kohl S, Lovric S, Hwang DY, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Natarajan S, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, Köhler G, Washburn J, Levy S, Fan S, Koerner-Rettberg C, Amselem S, Williams DS, Mitchell BJ, Drummond IA, Otto EA, Omran H, Knowles MR, Hildebrandt F. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.. American journal of human genetics, 2013.
  46. Frost LS, Lopes VS, Stefano FP, Bragin A, Williams DS, Mitchell CH, Boesze-Battaglia K. Loss of melanoregulin (MREG) enhances cathepsin-D secretion by the retinal pigment epithelium.. Visual neuroscience, 2013.
  47. Trivedi D, Colin E, Louie CM, Williams DS. Live-cell imaging evidence for the ciliary transport of rod photoreceptor opsin by heterotrimeric kinesin-2.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2012.
  48. Da Cruz S, Parone PA, Lopes VS, Lillo C, McAlonis-Downes M, Lee SK, Vetto AP, Petrosyan S, Marsala M, Murphy AN, Williams DS, Spiegelman BM, Cleveland DW. Elevated PGC-1α activity sustains mitochondrial biogenesis and muscle function without extending survival in a mouse model of inherited ALS.. Cell metabolism, 2012.
  49. Engelhardt M, Tosha C, Lopes VS, Chen B, Nguyen L, Nusinowitz S, Williams DS. Functional and morphological analysis of the subretinal injection of retinal pigment epithelium cells.. Visual neuroscience, 2012.
  50. Williams DS, Lopes VS. Gene therapy strategies for Usher syndrome type 1B.. Advances in experimental medicine and biology, 2012.
  51. Harkewicz R, Du H, Tong Z, Alkuraya H, Bedell M, Sun W, Wang X, Hsu YH, Esteve-Rudd J, Hughes G, Su Z, Zhang M, Lopes VS, Molday RS, Williams DS, Dennis EA, Zhang K. Essential role of ELOVL4 protein in very long chain fatty acid synthesis and retinal function.. The Journal of biological chemistry, 2011.
  52. Jacobson SG, Cideciyan AV, Gibbs D, Sumaroka A, Roman AJ, Aleman TS, Schwartz SB, Olivares MB, Russell RC, Steinberg JD, Kenna MA, Kimberling WJ, Rehm HL, Williams DS. Retinal disease course in Usher syndrome 1B due to MYO7A mutations.. Investigative ophthalmology & visual science, 2011.
  53. Williams DS, Lopes VS. The many different cellular functions of MYO7A in the retina.. Biochemical Society transactions, 2011.
  54. Byun DS, Ahmed N, Nasser S, Shin J, Al-Obaidi S, Goel S, Corner GA, Wilson AJ, Flanagan DJ, Williams DS, Augenlicht LH, Vincan E, Mariadason JM. Intestinal epithelial-specific PTEN inactivation results in tumor formation.. American journal of physiology. Gastrointestinal and liver physiology, 2011.
  55. Phillips JB, Blanco-Sanchez B, Lentz JJ, Tallafuss A, Khanobdee K, Sampath S, Jacobs ZG, Han PF, Mishra M, Titus TA, Williams DS, Keats BJ, Washbourne P, Westerfield M. Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function.. Disease models & mechanisms, 2011.
  56. Lopes VS, Gibbs D, Libby RT, Aleman TS, Welch DL, Lillo C, Jacobson SG, Radu RA, Steel KP, Williams DS. The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65.. Human molecular genetics, 2011.
  57. Lopes VS, Jimeno D, Khanobdee K, Song X, Chen B, Nusinowitz S, Williams DS. Dysfunction of heterotrimeric kinesin-2 in rod photoreceptor cells and the role of opsin mislocalization in rapid cell death.. Molecular biology of the cell, 2010.
  58. 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.. Nature genetics, 2010.
  59. Liao JL, Yu J, Huang K, Hu J, Diemer T, Ma Z, Dvash T, Yang XJ, Travis GH, Williams DS, Bok D, Fan G. Molecular signature of primary retinal pigment epithelium and stem-cell-derived RPE cells.. Human molecular genetics, 2010.
  60. Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, Ayuso C, Cremers FP, den Hollander AI, 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, 2010.
  61. Trivedi D, Williams DS. Ciliary transport of opsin.. Advances in experimental medicine and biology, 2010.
  62. 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.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2009.
  63. Avasthi P, Watt CB, Williams DS, Le YZ, Li S, Chen CK, Marc RE, Frederick JM, Baehr W. Trafficking of membrane proteins to cone but not rod outer segments is dependent on heterotrimeric kinesin-II.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2009.
  64. Williams DS, Cash A, Hamadani L, Diemer T. Oxaloacetate supplementation increases lifespan in Caenorhabditis elegans through an AMPK/FOXO-dependent pathway.. Aging cell, 2009.
  65. Abe N, Almenar-Queralt A, Lillo C, Shen Z, Lozach J, Briggs SP, Williams DS, Goldstein LS, Cavalli V. Sunday driver interacts with two distinct classes of axonal organelles.. The Journal of biological chemistry, 2009.
  66. Gibbs D, Diemer T, Khanobdee K, Hu J, Bok D, Williams DS. Function of MYO7A in the human RPE and the validity of shaker1 mice as a model for Usher syndrome 1B.. Investigative ophthalmology & visual science, 2009.
  67. Falzone TL, Stokin GB, Lillo C, Rodrigues EM, Westerman EL, Williams DS, Goldstein LS. Axonal stress kinase activation and tau misbehavior induced by kinesin-1 transport defects.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2009.
  68. Williams DS, Aleman TS, Lillo C, Lopes VS, Hughes LC, Stone EM, Jacobson SG. Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C.. Investigative ophthalmology & visual science, 2009.
  69. Gibbs D, Cideciyan AV, Jacobson SG, Williams DS. Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence.. Investigative ophthalmology & visual science, 2009.
  70. Damek-Poprawa M, Diemer T, Lopes VS, Lillo C, Harper DC, Marks MS, Wu Y, Sparrow JR, Rachel RA, Williams DS, Boesze-Battaglia K. Melanoregulin (MREG) modulates lysosome function in pigment epithelial cells.. The Journal of biological chemistry, 2009.
  71. Stokin GB, Almenar-Queralt A, Gunawardena S, Rodrigues EM, Falzone T, Kim J, Lillo C, Mount SL, Roberts EA, McGowan E, Williams DS, Goldstein LS. Amyloid precursor protein-induced axonopathies are independent of amyloid-beta peptides.. Human molecular genetics, 2008.
  72. 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. Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.. The Journal of clinical investigation, 2008.
  73. Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Gardner LM, Prosser HM, Mishra M, Bech-Hansen NT, Herrera W, Schwartz SB, Liu XZ, Kimberling WJ, Steel KP, Williams DS. Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.. Human molecular genetics, 2008.
  74. Allocca M, Doria M, Petrillo M, Colella P, Garcia-Hoyos M, Gibbs D, Kim SR, Maguire A, Rex TS, Di Vicino U, Cutillo L, Sparrow JR, Williams DS, Bennett J, Auricchio A. Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice.. The Journal of clinical investigation, 2008.
  75. Feathers KL, Lyubarsky AL, Khan NW, Teofilo K, Swaroop A, Williams DS, Pugh EN, Thompson DA. Nrl-knockout mice deficient in Rpe65 fail to synthesize 11-cis retinal and cone outer segments.. Investigative ophthalmology & visual science, 2008.
  76. Diemer T, Gibbs D, Williams DS. Analysis of the rate of disk membrane digestion by cultured RPE cells.. Advances in experimental medicine and biology, 2008.
  77. Williams DS. Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy.. Vision research, 2007.
  78. Klomp AE, Teofilo K, Legacki E, Williams DS. Analysis of the linkage of MYRIP and MYO7A to melanosomes by RAB27A in retinal pigment epithelial cells.. Cell motility and the cytoskeleton, 2007.
  79. Boesze-Battaglia K, Song H, Sokolov M, Lillo C, Pankoski-Walker L, Gretzula C, Gallagher B, Rachel RA, Jenkins NA, Copeland NG, Morris F, Jacob J, Yeagle P, Williams DS, Damek-Poprawa M. The tetraspanin protein peripherin-2 forms a complex with melanoregulin, a putative membrane fusion regulator.. Biochemistry, 2007.
  80. Jimeno D, Feiner L, Lillo C, Teofilo K, Goldstein LS, Pierce EA, Williams DS. Analysis of kinesin-2 function in photoreceptor cells using synchronous Cre-loxP knockout of Kif3a with RHO-Cre.. Investigative ophthalmology & visual science, 2006.
  81. Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.. Nature genetics, 2006.
  82. Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, Sayer JA, Otto EA, Attanasio M, O'Toole JF, Jin G, Shou C, Hildebrandt F, Williams DS, Heckenlively JR, Swaroop A. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.. Human molecular genetics, 2006.
  83. Azarian SM, McLeod I, Lillo C, Gibbs D, Yates JR, Williams DS. Proteomic analysis of mature melanosomes from the retinal pigmented epithelium.. Journal of proteome research, 2006.
  84. Lillo C, Kitamoto J, Williams DS. Roles and interactions of usher 1 proteins in the outer retina.. Advances in experimental medicine and biology, 2006.
  85. Jimeno D, Lillo C, Roberts EA, Goldstein LS, Williams DS. Kinesin-2 and photoreceptor cell death: requirement of motor subunits.. Experimental eye research, 2005.
  86. Zhu X, Wu K, Rife L, Cawley NX, Brown B, Adams T, Teofilo K, Lillo C, Williams DS, Loh YP, Craft CM. Carboxypeptidase E is required for normal synaptic transmission from photoreceptors to the inner retina.. Journal of neurochemistry, 2005.
  87. Khanna H, Hurd TW, Lillo C, Shu X, Parapuram SK, He S, Akimoto M, Wright AF, Margolis B, Williams DS, Swaroop A. RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.. The Journal of biological chemistry, 2005.
  88. Kitamoto J, Libby RT, Gibbs D, Steel KP, Williams DS. Myosin VI is required for normal retinal function.. Experimental eye research, 2005.
  89. Daniele LL, Lillo C, Lyubarsky AL, Nikonov SS, Philp N, Mears AJ, Swaroop A, Williams DS, Pugh EN. Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse.. Investigative ophthalmology & visual science, 2005.
  90. Stokin GB, Lillo C, Falzone TL, Brusch RG, Rockenstein E, Mount SL, Raman R, Davies P, Masliah E, Williams DS, Goldstein LS. Axonopathy and transport deficits early in the pathogenesis of Alzheimer's disease.. Science (New York, N.Y.), 2005.
  91. 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, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.. Nature genetics, 2005.
  92. Gibbs D, Azarian SM, Lillo C, Kitamoto J, Klomp AE, Steel KP, Libby RT, Williams DS. Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes.. Journal of cell science, 2004.
  93. Libby RT, Lillo C, Kitamoto J, Williams DS, Steel KP. Myosin Va is required for normal photoreceptor synaptic activity.. Journal of cell science, 2004.
  94. Liu J, Lillo C, Jonsson PA, Vande Velde C, Ward CM, Miller TM, Subramaniam JR, Rothstein JD, Marklund S, Andersen PM, Brännström T, Gredal O, Wong PC, Williams DS, Cleveland DW. Toxicity of familial ALS-linked SOD1 mutants from selective recruitment to spinal mitochondria.. Neuron, 2004.
  95. Siemens J, Lillo C, Dumont RA, Reynolds A, Williams DS, Gillespie PG, Müller U. Cadherin 23 is a component of the tip link in hair-cell stereocilia.. Nature, 2004.
  96. Libby RT, Kitamoto J, Holme RH, Williams DS, Steel KP. Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration.. Experimental eye research, 2003.
  97. Adams RA, Liu X, Williams DS, Newton AC. Differential spatial and temporal phosphorylation of the visual receptor, rhodopsin, at two primary phosphorylation sites in mice exposed to light.. The Biochemical journal, 2003.
  98. 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 of Sciences of the United States of America, 2003.
  99. Xia CH, Roberts EA, Her LS, Liu X, Williams DS, Cleveland DW, Goldstein LS. Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A.. The Journal of cell biology, 2003.
  100. Gibbs D, Williams DS. Isolation and culture of primary mouse retinal pigmented epithelial cells.. Advances in experimental medicine and biology, 2003.
  101. Lillo C, Kitamoto J, Liu X, Quint E, Steel KP, Williams DS. Mouse models for Usher syndrome 1B.. Advances in experimental medicine and biology, 2003.
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