Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration

by Fabian A. Garces, Jessica F. Scortecci, Robert S. Molday
Published 2021-12-01

Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration and Leber Congenital Amaurosis

by Robert S. Molday, Thomas eJefferies, Laurie L Molday
Published 2014-05-01

Cog-Wheel Octameric Structure of RS1, the Discoidin Domain Containing Retinal Protein Associated with X-Linked Retinoschisis.

by Martin Bush, Dheva Setiaputra, Calvin K Yip, Robert S Molday
Published 2016-01-01

Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa

by Daniel Mordes, Liya Yuan, Lili Xu, Mariko Kawada, Robert S. Molday, Jane Y. Wu
Published 2007-05-01

Cryo-EM structures of the ABCA4 importer reveal mechanisms underlying substrate binding and Stargardt disease

by Jessica Fernandes Scortecci, Laurie L. Molday, Susan B. Curtis, Fabian A. Garces, Pankaj Panwar, Filip Van Petegem, Robert S. Molday
Published 2021-10-01

Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP.

by Huibi Cao, Jing Wu, Simon Lam, Rongqi Duan, Catherine Newnham, Robert S Molday, John J Graziotto, Eric A Pierce, Jim Hu
Published 2011-01-01

Localization of a guanylyl cyclase to chemosensory cilia requires the novel ciliary MYND domain protein DAF-25.

by Victor L Jensen, Nathan J Bialas, Sharon L Bishop-Hurley, Laurie L Molday, Katarzyna Kida, Phuong Anh T Nguyen, Oliver E Blacque, Robert S Molday, Michel R Leroux, Donald L Riddle
Published 2010-11-01

PAX6 MiniPromoters drive restricted expression from rAAV in the adult mouse retina

by Jack W Hickmott, Chih-yu Chen, David J Arenillas, Andrea J Korecki, Siu Ling Lam, Laurie L Molday, Russell J Bonaguro, Michelle Zhou, Alice Y Chou, Anthony Mathelier, Sanford L Boye, William W Hauswirth, Robert S Molday, Wyeth W Wasserman, Elizabeth M Simpson
Published 2016-01-01

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

by Hugh J. McMillan, Aida Telegrafi, Amanda Singleton, Megan T. Cho, Daniel Lelli, Francis C. Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E. Erasmus, David A. Koolen, Charlotte A. Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Michel Tchan, Cas Simons, John Christodoulou, Elena Martín-Hernández, Maria J. Guillen Sacoto, Lindsay B. Henderson, Heather McLaughlin, Laurie L. Molday, Robert S. Molday, Grace Yoon
Published 2018-05-01