NADPH Oxidase Contributes to Photoreceptor Degeneration in Constitutively Active RAC1 Mice

by Song, Hongman, Vijayasarathy, Camasamudram, Zeng, Yong, Marangoni, Dario, Bush, Ronald A., Wu, Zhijian, Sieving, Paul A.
Published 2016

Biology and therapy of inherited retinal degenerative disease: insights from mouse models

by Veleri, Shobi, Lazar, Csilla H., Chang, Bo, Sieving, Paul A., Banin, Eyal, Swaroop, Anand
Published 2015

RanBP2 Modulates Cox11 and Hexokinase I Activities and Haploinsufficiency of RanBP2 Causes Deficits in Glucose Metabolism

by Aslanukov, Azamat, Bhowmick, Reshma, Guruju, Mallikarjuna, Oswald, John, Raz, Dorit, Bush, Ronald A, Sieving, Paul A, Lu, Xinrong, Bock, Cheryl B, Ferreira, Paulo A
Published 2006

Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa

by Ali, Shahbaz, Riazuddin, S. Amer, Shahzadi, Amber, Nasir, Idrees A., Khan, Shaheen N., Husnain, Tayyab, Akram, Javed, Sieving, Paul A., Hejtmancik, J. Fielding, Riazuddin, Sheikh
Published 2011

AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration

by Li, David, Jin, Chongfei, Jiao, Xiaodong, Li, Lin, Bushra, Tahmina, Naeem, Muhammad Asif, Butt, Nadeem H., Husnain, Tayyab, Sieving, Paul A., Riazuddin, Sheikh, Riazuddin, S. Amer, Hejtmancik, J. Fielding
Published 2014

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy

by Kabir, Firoz, Naz, Shagufta, Riazuddin, S. Amer, Naeem, Muhammad Asif, Khan, Shaheen N., Husnain, Tayyab, Akram, Javed, Sieving, Paul A., Hejtmancik, J. Fielding, Riazuddin, Sheikh
Published 2013

Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis

by D’Souza, Leera, Cukras, Catherine, Antolik, Christian, Craig, Candice, Lee, Ji-Yun, He, Hong, Li, Shibo, Smaoui, Nizar, Hejtmancik, James F., Sieving, Paul A., Wang, Xinjing
Published 2013

Retinal Structure and Gene Therapy Outcome in Retinoschisin-Deficient Mice Assessed by Spectral-Domain Optical Coherence Tomography

by Zeng, Yong, Petralia, Ronald S., Vijayasarathy, Camasamudram, Wu, Zhijian, Hiriyanna, Suja, Song, Hongman, Wang, Ya-Xian, Sieving, Paul A., Bush, Ronald A.
Published 2016

Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa

by Bowne, Sara J., Sullivan, Lori S., Avery, Cheryl E., Sasser, Elizabeth M., Roorda, Austin, Duncan, Jacque L., Wheaton, Dianna H., Birch, David G., Branham, Kari E., Heckenlively, John R., Sieving, Paul A., Daiger, Stephen P.
Published 2013

Exome Analysis Identified a Novel Mutation in the RBP4 Gene in a Consanguineous Pedigree with Retinal Dystrophy and Developmental Abnormalities

by Cukras, Catherine, Gaasterland, Terry, Lee, Pauline, Gudiseva, Harini V., Chavali, Venkata R. M., Pullakhandam, Raghu, Maranhao, Bruno, Edsall, Lee, Soares, Sandra, Reddy, G. Bhanuprakash, Sieving, Paul A., Ayyagari, Radha
Published 2012

Ocular and systemic safety of a recombinant AAV8 vector for X-linked retinoschisis gene therapy: GLP studies in rabbits and Rs1-KO mice

by Marangoni, Dario, Bush, Ronald A, Zeng, Yong, Wei, Lisa L, Ziccardi, Lucia, Vijayasarathy, Camasamudram, Bartoe, Joshua T, Palyada, Kiran, Santos, Maria, Hiriyanna, Suja, Wu, Zhijian, Colosi, Peter, Sieving, Paul A
Published 2016