David Williams*
David S. Williams, Ph.D., formerly held the Karl Kirchgessner Foundation Chair in Vision Science from 7/1/2019 - 6/30/2024.
Websites:
Publications:
Ku PI, Sreeja JS, Chadha A, Williams DS, Engelke MF, Subramanian R. Collaborative role of two distinct cilium-specific cytoskeletal systems in driving Hedgehog-responsive transcription factor trafficking. bioRxiv. 2024 Oct 01. view on PubMed
Nightingale R, Reehorst CM, Vukelic N, Papadopoulos N, Liao Y, Guleria S, Bell C, Vaillant F, Paul S, Luk IY, Dhillon AS, Jenkins LJ, Morrow RJ, Jackling FC, Chand AL, Chisanga D, Chen Y, Williams DS, Anderson RL, Ellis S, Meikle PJ, Shi W, Visvader JE, Pal B, Mariadason JM. Ehf controls mammary alveolar lineage differentiation and is a putative suppressor of breast tumorigenesis. Dev Cell. 2024 Aug 05; 59(15):1988-2004.e11. view on PubMed
Hultgren NW, Zhou T, Williams DS. Machine learning-based 3D segmentation of mitochondria in polarized epithelial cells. Mitochondrion. 2024 May; 76:101882. view on PubMed
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 Res. 2023 11; 212:108311. view on PubMed
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. J Neurosci. 2023 07 26; 43(30):5468-5482. view on PubMed
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. Curr Biol. 2023 04 24; 33(8):1513-1522.e4. view on PubMed
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. J Neurosci. 2023 04 12; 43(15):2653-2664. view on PubMed
Paniagua AE, Sabharwal HS, Kethu K, Chang AW, Williams DS. Revisiting the Daily Timing of POS Phagocytosis. Adv Exp Med Biol. 2023; 1415:515-519. view on PubMed
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. J Biol Chem. 2022 09; 298(9):102286. view on PubMed
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. Exp Eye Res. 2022 09; 222:109170. view on PubMed
Hazim RA, Williams DS. Microtubule Motor Transport of Organelles in a Specialized Epithelium: The RPE. Front Cell Dev Biol. 2022; 10:852468. view on PubMed
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; 17(3):e0254469. view on PubMed
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 12; 12(1):2214-2227. view on PubMed
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. J Neurosci. 2021 09 08; 41(36):7514-7531. view on PubMed
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. Front Cell Dev Biol. 2021; 9:701853. view on PubMed
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 Immunol Res. 2021 07; 9(7):735-747. view on PubMed
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. Commun Biol. 2021 02 05; 4(1):161. view on PubMed
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. Nat Commun. 2020 10 26; 11(1):5400. view on PubMed
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. J Cell Sci. 2020 08 04; 133(15). view on PubMed
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 Sci Alliance. 2020 07; 3(7). view on PubMed
Lakkaraju A, Umapathy A, Tan LX, Daniele L, Philp NJ, Boesze-Battaglia K, Williams DS. The cell biology of the retinal pigment epithelium. Prog Retin Eye Res. 2020 Feb 24; 100846. view on PubMed
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. Proc Natl Acad Sci U S A. 2020 02 25; 117(8):4400-4410. view on PubMed
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). Am J Physiol Cell Physiol. 2019 12 01; 317(6):C1194-C1204. view on PubMed
Chadha A, Volland S, Baliaouri NV, Tran EM, Williams DS. The route of the visual receptor rhodopsin along the cilium. J Cell Sci. 2019 05 15; 132(10). view on PubMed
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 Res Ther. 2019 Feb 12; 10(1):52. view on PubMed
Umapathy A, Williams DS. Live Imaging of Organelle Motility in RPE Flatmounts. Adv Exp Med Biol. 2019; 1185:389-393. view on PubMed
Hazim RA, Volland S, Yen A, Burgess BL, Williams DS. Rapid differentiation of the human RPE cell line, ARPE-19, induced by nicotinamide. Exp Eye Res. 2019 02; 179:18-24. view on PubMed
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. Proc Natl Acad Sci U S A. 2018 05 22; 115(21):5468-5473. view on PubMed
Hazim RA, Williams DS. Cell Culture Analysis of the Phagocytosis of Photoreceptor Outer Segments by Primary Mouse RPE Cells. Methods Mol Biol. 2018; 1753:63-71. view on PubMed
Volland S, Williams DS. Preservation of Photoreceptor Nanostructure for Electron Tomography Using Transcardiac Perfusion Followed by High-Pressure Freezing and Freeze-Substitution. Adv Exp Med Biol. 2018; 1074:603-607. view on PubMed
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 Res Ther. 2017 10 02; 8(1):217. view on PubMed
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. Proc Natl Acad Sci U S A. 2017 09 26; 114(39):E8214-E8223. view on PubMed
Goldberg AF, Moritz OL, Williams DS. Molecular basis for photoreceptor outer segment architecture. Prog Retin Eye Res. 2016 11; 55:52-81. view on PubMed
Hazim R, Jiang M, Esteve-Rudd J, Diemer T, Lopes VS, Williams DS. Live-Cell Imaging of Phagosome Motility in Primary Mouse RPE Cells. Adv Exp Med Biol. 2016; 854:751-5. view on PubMed
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. Proc Natl Acad Sci U S A. 2015 Dec 01; 112(48):14870-5. view on PubMed
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. J Cell Biol. 2015 Aug 17; 210(4):595-611. view on PubMed
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; 10(4):e0125631. view on PubMed
Lopes VS, Williams DS. Gene Therapy for the Retinal Degeneration of Usher Syndrome Caused by Mutations in MYO7A. Cold Spring Harb Perspect Med. 2015 Jan 20; 5(6). view on PubMed
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. Hum Mol Genet. 2015 Mar 15; 24(6):1584-601. view on PubMed
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. Mol Neurobiol. 2015 Dec; 52(3):1135-1151. view on PubMed
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. Am J Hum Genet. 2014 Jun 05; 94(6):884-90. view on PubMed
Crouse JA, Lopes VS, Sanagustin JT, Keady BT, Williams DS, Pazour GJ. Distinct functions for IFT140 and IFT20 in opsin transport. Cytoskeleton (Hoboken). 2014 May; 71(5):302-10. view on PubMed
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. J Neurosci. 2014 Feb 26; 34(9):3320-39. view on PubMed
Lopes VS, Diemer T, Williams DS. Assessment of different virus-mediated approaches for retinal gene therapy of Usher 1B. Adv Exp Med Biol. 2014; 801:725-31. view on PubMed
Esteve-Rudd J, Lopes VS, Jiang M, Williams DS. In vivo and in vitro monitoring of phagosome maturation in retinal pigment epithelium cells. Adv Exp Med Biol. 2014; 801:85-90. view on PubMed
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. J Clin Invest. 2013 Dec; 123(12):5179-89. view on PubMed
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 Eng Part C Methods. 2014 May; 20(5):393-400. view on PubMed
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. Am J Hum Genet. 2013 Aug 08; 93(2):336-45. view on PubMed
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. Vis Neurosci. 2013 May; 30(3):55-64. view on PubMed
Trivedi D, Colin E, Louie CM, Williams DS. Live-cell imaging evidence for the ciliary transport of rod photoreceptor opsin by heterotrimeric kinesin-2. J Neurosci. 2012 Aug 01; 32(31):10587-93. view on PubMed
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 Metab. 2012 May 02; 15(5):778-86. view on PubMed
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. Vis Neurosci. 2012 Mar; 29(2):83-93. view on PubMed
Williams DS, Lopes VS. Gene therapy strategies for Usher syndrome type 1B. Adv Exp Med Biol. 2012; 723:235-42. view on PubMed
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. J Biol Chem. 2012 Mar 30; 287(14):11469-80. view on PubMed
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. Invest Ophthalmol Vis Sci. 2011 Oct 07; 52(11):7924-36. view on PubMed
Williams DS, Lopes VS. The many different cellular functions of MYO7A in the retina. Biochem Soc Trans. 2011 Oct; 39(5):1207-10. view on PubMed
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. Am J Physiol Gastrointest Liver Physiol. 2011 Nov; 301(5):G856-64. view on PubMed
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. Dis Model Mech. 2011 Nov; 4(6):786-800. view on PubMed
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. Hum Mol Genet. 2011 Jul 01; 20(13):2560-70. view on PubMed
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. Mol Biol Cell. 2010 Dec; 21(23):4076-88. view on PubMed
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. 2010 Oct; 42(10):840-50. view on PubMed
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. Hum Mol Genet. 2010 Nov 01; 19(21):4229-38. view on PubMed
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. Nat Genet. 2010 Feb; 42(2):175-80. view on PubMed
Trivedi D, Williams DS. Ciliary transport of opsin. Adv Exp Med Biol. 2010; 664:185-91. view on PubMed
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. J Neurosci. 2009 Dec 16; 29(50):15810-8. view on PubMed
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. J Neurosci. 2009 Nov 11; 29(45):14287-98. view on PubMed
Williams DS, Cash A, Hamadani L, Diemer T. Oxaloacetate supplementation increases lifespan in Caenorhabditis elegans through an AMPK/FOXO-dependent pathway. Aging Cell. 2009 Dec; 8(6):765-8. view on PubMed
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. J Biol Chem. 2009 Dec 11; 284(50):34628-39. view on PubMed
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. Invest Ophthalmol Vis Sci. 2010 Feb; 51(2):1130-5. view on PubMed
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. J Neurosci. 2009 May 06; 29(18):5758-67. view on PubMed
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. Invest Ophthalmol Vis Sci. 2009 Aug; 50(8):3881-9. view on PubMed
Gibbs D, Cideciyan AV, Jacobson SG, Williams DS. Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence. Invest Ophthalmol Vis Sci. 2009 Sep; 50(9):4386-93. view on PubMed
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. J Biol Chem. 2009 Apr 17; 284(16):10877-89. view on PubMed
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. Hum Mol Genet. 2008 Nov 15; 17(22):3474-86. view on PubMed
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. J Clin Invest. 2008 Aug; 118(8):2908-16. view on PubMed
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. Hum Mol Genet. 2008 Aug 01; 17(15):2405-15. view on PubMed
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. J Clin Invest. 2008 May; 118(5):1955-64. view on PubMed
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. Invest Ophthalmol Vis Sci. 2008 Mar; 49(3):1126-35. view on PubMed
Diemer T, Gibbs D, Williams DS. Analysis of the rate of disk membrane digestion by cultured RPE cells. Adv Exp Med Biol. 2008; 613:321-6. view on PubMed
Williams DS. Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy. Vision Res. 2008 Feb; 48(3):433-41. view on PubMed
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 Motil Cytoskeleton. 2007 Jun; 64(6):474-87. view on PubMed
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 Feb 06; 46(5):1256-72. view on PubMed
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. Invest Ophthalmol Vis Sci. 2006 Nov; 47(11):5039-46. view on PubMed
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. Nat Genet. 2006 Jun; 38(6):674-81. view on PubMed
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. Hum Mol Genet. 2006 Jun 01; 15(11):1847-57. view on PubMed
Azarian SM, McLeod I, Lillo C, Gibbs D, Yates JR, Williams DS. Proteomic analysis of mature melanosomes from the retinal pigmented epithelium. J Proteome Res. 2006 Mar; 5(3):521-9. view on PubMed
Lillo C, Kitamoto J, Williams DS. Roles and interactions of usher 1 proteins in the outer retina. Adv Exp Med Biol. 2006; 572:341-8. view on PubMed
Jimeno D, Lillo C, Roberts EA, Goldstein LS, Williams DS. Kinesin-2 and photoreceptor cell death: requirement of motor subunits. Exp Eye Res. 2006 Feb; 82(2):351-3. view on PubMed
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. J Neurochem. 2005 Dec; 95(5):1351-62. view on PubMed
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. J Biol Chem. 2005 Sep 30; 280(39):33580-7. view on PubMed
Kitamoto J, Libby RT, Gibbs D, Steel KP, Williams DS. Myosin VI is required for normal retinal function. Exp Eye Res. 2005 Jul; 81(1):116-20. view on PubMed
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. Invest Ophthalmol Vis Sci. 2005 Jun; 46(6):2156-67. view on PubMed
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. 2005 Feb 25; 307(5713):1282-8. view on PubMed
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. Nat Genet. 2005 Mar; 37(3):282-8. view on PubMed
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. J Cell Sci. 2004 Dec 15; 117(Pt 26):6473-83. view on PubMed
Libby RT, Lillo C, Kitamoto J, Williams DS, Steel KP. Myosin Va is required for normal photoreceptor synaptic activity. J Cell Sci. 2004 Sep 01; 117(Pt 19):4509-15. view on PubMed
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 Jul 08; 43(1):5-17. view on PubMed
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 Apr 29; 428(6986):950-5. view on PubMed
Libby RT, Kitamoto J, Holme RH, Williams DS, Steel KP. Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration. Exp Eye Res. 2003 Dec; 77(6):731-9. view on PubMed
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. Biochem J. 2003 Sep 01; 374(Pt 2):537-43. view on PubMed
Gibbs D, Kitamoto J, Williams DS. Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein. Proc Natl Acad Sci U S A. 2003 May 27; 100(11):6481-6. view on PubMed
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. J Cell Biol. 2003 Apr 14; 161(1):55-66. view on PubMed
Gibbs D, Williams DS. Isolation and culture of primary mouse retinal pigmented epithelial cells. Adv Exp Med Biol. 2003; 533:347-52. view on PubMed
Lillo C, Kitamoto J, Liu X, Quint E, Steel KP, Williams DS. Mouse models for Usher syndrome 1B. Adv Exp Med Biol. 2003; 533:143-50. view on PubMed
Slatter T, Azarian SM, Tebbutt S, Maw M, Williams DS. Screen for usher syndrome 1B mutations in the ovine myosin VIIa gene. Adv Exp Med Biol. 2003; 533:151-5. view on PubMed
Williams DS. Transport to the photoreceptor outer segment by myosin VIIa and kinesin II. Vision Res. 2002 Feb; 42(4):455-62. view on PubMed
Udovichenko IP, Gibbs D, Williams DS. Actin-based motor properties of native myosin VIIa. J Cell Sci. 2002 Jan 15; 115(Pt 2):445-50. view on PubMed
