Axonopathy and transport deficits early in the pathogenesis of Alzheimer's disease GB Stokin, C Lillo, TL Falzone, RG Brusch, E Rockenstein, SL Mount, ... Science 307 (5713), 1282-1288, 2005 | 1420 | 2005 |
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 JA Sayer, EA Otto, JF O'Toole, G Nurnberg, MA Kennedy, C Becker, ... Nature genetics 38 (6), 674-681, 2006 | 728 | 2006 |
Toxicity of familial ALS-linked SOD1 mutants from selective recruitment to spinal mitochondria J Liu, C Lillo, PA Jonsson, CV Velde, CM Ward, TM Miller, ... Neuron 43 (1), 5-17, 2004 | 644 | 2004 |
Cadherin 23 is a component of the tip link in hair-cell stereocilia J Siemens, C Lillo, RA Dumont, A Reynolds, DS Williams, PG Gillespie, ... Nature 428 (6986), 950-955, 2004 | 542 | 2004 |
Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors JR Marszalek, X Liu, EA Roberts, D Chui, JD Marth, DS Williams, ... Cell 102 (2), 175-187, 2000 | 475 | 2000 |
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin EA Otto, B Loeys, H Khanna, J Hellemans, R Sudbrak, S Fan, U Muerb, ... Nature genetics 37 (3), 282-288, 2005 | 451 | 2005 |
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 B Chang, H Khanna, N Hawes, D Jimeno, S He, C Lillo, SK Parapuram, ... Human molecular genetics 15 (11), 1847-1857, 2006 | 415 | 2006 |
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy EA Otto, TW Hurd, R Airik, M Chaki, W Zhou, C Stoetzel, SB Patil, S Levy, ... Nature genetics 42 (10), 840-850, 2010 | 384 | 2010 |
Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A CH Xia, EA Roberts, LS Her, X Liu, DS Williams, DW Cleveland, ... The Journal of cell biology 161 (1), 55-66, 2003 | 380 | 2003 |
Scara5 is a ferritin receptor mediating non-transferrin iron delivery JY Li, N Paragas, RM Ned, A Qiu, M Viltard, T Leete, IR Drexler, X Chen, ... Developmental cell 16 (1), 35-46, 2009 | 377 | 2009 |
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption S Ashraf, HY Gee, S Woerner, LX Xie, V Vega-Warner, S Lovric, H Fang, ... The Journal of clinical investigation 123 (12), 5179-5189, 2013 | 367 | 2013 |
Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice M Allocca, M Doria, M Petrillo, P Colella, M Garcia-Hoyos, D Gibbs, ... The Journal of clinical investigation 118 (5), 1955-1964, 2008 | 357 | 2008 |
Myosin VIIa participates in opsin transport through the photoreceptor cilium X Liu, IP Udovichenko, SDM Brown, KP Steel, DS Williams Journal of Neuroscience 19 (15), 6267-6274, 1999 | 341 | 1999 |
Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration. K Arikawa, LL Molday, RS Molday, DS Williams The Journal of cell biology 116 (3), 659-667, 1992 | 332 | 1992 |
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice Z Yang, Y Chen, C Lillo, J Chien, Z Yu, M Michaelides, M Klein, ... The Journal of clinical investigation 118 (8), 2908-2916, 2008 | 300 | 2008 |
Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein D Gibbs, J Kitamoto, DS Williams Proceedings of the National Academy of Sciences 100 (11), 6481-6486, 2003 | 270 | 2003 |
The cell biology of the retinal pigment epithelium A Lakkaraju, A Umapathy, LX Tan, L Daniele, NJ Philp, ... Progress in retinal and eye research 78, 100846, 2020 | 264 | 2020 |
A comparison of some organizational characteristics of the mouse central retina and the human macula S Volland, J Esteve-Rudd, J Hoo, C Yee, DS Williams PloS one 10 (4), e0125631, 2015 | 243 | 2015 |
Evaluation of resveratrol, green tea extract, curcumin, oxaloacetic acid, and medium-chain triglyceride oil on life span of genetically heterogeneous mice R Strong, RA Miller, CM Astle, JA Baur, R De Cabo, E Fernandez, W Guo, ... Journals of Gerontology Series A: Biomedical Sciences and Medical Sciences …, 2013 | 239 | 2013 |
Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse LL Daniele, C Lillo, AL Lyubarsky, SS Nikonov, N Philp, AJ Mears, ... Investigative ophthalmology & visual science 46 (6), 2156-2167, 2005 | 239 | 2005 |