Selected Publications

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.  Journal of Neuroscience 43:2653-2664, 2023.
https://www.ncbi.nlm.nih.gov/pubmed/36878726(Link is external) (Link opens in new window)   doi: 10.1523/JNEUROSCI.1726-22.2023

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. Journal of Biological Chemistry 298:102286, 2022.
https://www.ncbi.nlm.nih.gov/pubmed/35868562(Link is external)     PMID: 35868562.  doi: 10.1016/j.jbc.2022.102286

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. Journal of Neuroscience, in press, 2021.
PMID:   PMCID:   DOI: 10.1523/JNEUROSCI.0357-21.2021(Link is external)

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, and Hughes CCW: Slug regulates the Dll4-Notch-VEGFR2 axis to control endothelial cell activation and angiogenesis. Nature Communications, 11:5400, 2020.
PMID: 33106502(Link is external)  PMCID: PMC7588439(Link is external) (Link opens in new window)  DOI: 10.1038/s41467-020-18633-z(Link is external) (Link opens in new window)

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, 3(7):e201900620, 2020. 
PMID: 32499316(Link is external)  PMCID: PMC7283135(Link is external) (Link opens in new window)  DOI: 10.26508/lsa.201900620(Link is external)

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, 133 (15): jcs242214, 2020.
PMID: 32661088(Link is external)  PMCID: PMC7420818(Link is external)  DOI: 10.1242/jcs.242214(Link is external) (Link opens in new window)        

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 Retina and Eye Research, 78:100846, 2020.
PMID: 32105772(Link is external)  PMCID:              DOI: 10.1016/j.preteyeres.2020.100846(Link is external)

Milstein ML, Cavanaugh B, 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, 117:4400-4410, 2020. 
PMID: 32041874(Link is external)  PMCID: PMC7049111(Link is external)  DOI: 10.1073/pnas.1912513117(Link is external)

Chadha A, Volland S, Baliaouri NV, Tran EM, Williams DS: The route of the visual receptor rhodopsin along the cilium. Journal of Cell Science, 132(10):jcs229526, 2019.
PMID: 30975916(Link is external)  PMCID: PMC6550008(Link is external)  DOI: 10.1242/jcs.229526(Link is external)
 

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.
PMID: 29735674(Link is external)  PMCID: PMC6003516(Link is external)  DOI: 10.1073/pnas.1709211115(Link is external)
 

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.
PMID: 26578801(Link is external)  PMCID: PMC4672767(Link is external)  DOI: 10.1073/pnas.1516309112(Link is external)

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.
PMID: 26261180(Link is external)  PMCID: PMC4539993(Link is external)  DOI: 10.1083/jcb.201410112(Link is external)

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.
PMID: 23344065(Link is external)  PMCID: PMC3640772(Link is external)  DOI: 10.1038/gt.2013.3(Link is external)

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.
PMID: 22855808(Link is external)  PMCID: PMC3428073(Link is external)  DOI: 10.1523/JNEUROSCI.0015-12.2012(Link is external)

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 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, 42:175-180, 2010.
PMID: 20081859(Link is external)  PMCID: PMC2884967(Link is external)  DOI: 10.1038/ng.519(Link is external)

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.
PMID: 20016096(Link is external)  PMCID: PMC2834289(Link is external)  DOI: 10.1523/JNEUROSCI.4876-09.2009(Link is external)

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.
PMID: 19793063(Link is external) PMCID: PMC2988682(Link is external)  DOI: 10.1111/j.1474-9726.2009.00527.x(Link is external)

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.
PMID: 18654668(Link is external)  PMCID: PMC2483685(Link is external)  DOI: 10.1172/JCI35891(Link is external)

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.
PMID: 17268537(Link is external)  PMCID:   DOI: 10.1038/sj.gt.3302897(Link is external)

Schubert D, Williams DS: ‘Cisgenic’ as a product designation.Nature Biotechnology, 24:1327-1329, 2006.
PMID: 17093469(Link is external)  PMCID:   DOI: 10.1038/nbt1106-1327(Link is external)

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.
PMID: 15731448(Link is external)  PMCID:   DOI: 10.1126/science.1105681(Link is external)

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: Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nature Genetics, 37:282-288, 2005.
PMID: 15723066(Link is external)  PMCID:   DOI: 10.1038/ng1520(Link is external)

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.
PMID: 15749821(Link is external)  PMCID: PMC554798(Link is external)  DOI: 10.1073/pnas.0407698102(Link is external)

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.
PMID: 15572405(Link is external)  PMCID: PMC2942070(Link is external)  DOI: 10.1242/jcs.01580(Link is external)

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.
PMID: 15233913(Link is external)  PMCID:   DOI: 10.1016/j.neuron.2004.06.016(Link is external)

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.
PMID: 15057245(Link is external)  PMCID:  DOI: 10.1038/nature02483(Link is external)

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.
PMID: 12743369(Link is external)  PMCID: PMC164472(Link is external)  DOI: 10.1073/pnas.1130432100(Link is external)

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.
PMID: 10943838(Link is external)  PMCID:   DOI: 10.1016/s0092-8674(00)00023-4(Link is external)

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.
PMID: 10414956(Link is external)  PMCID: PMC6782817(Link is external) DOI: 10.1523/JNEUROSCI.19-15-06267.1999(Link is external)

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.
PMID: 9620764(Link is external)  PMCID:   DOI: 10.1038/470(Link is external)

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.
PMID: 1730772(Link is external)  PMCID: PMC2289304(Link is external)  DOI: 10.1083/jcb.116.3.659(Link is external)

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.
PMID: 2112548(Link is external)  PMCID: PMC2116135(Link is external)  DOI: 10.1083/jcb.110.6.1993(Link is external)

Williams DS: Photoreceptor membrane shedding and assembly can be initiated locally within an insect eye.  Science, 218:898-900 (plus front cover), 1982.
PMID: 7134980(Link is external)  PMCID:   DOI: 10.1126/science.7134980(Link is external)

Williams DS, McIntyre P: The principal eyes of a jumping spider have a telephoto component. Nature, 288:578-580, 1980.
PMID:   PMCID:   DOI: 10.1038/288578a0(Link is external)