Search Results - "Boye, Sanford"

Current Clinical Applications of In Vivo Gene Therapy with AAVs by Mendell, Jerry R., Al-Zaidy, Samiah A., Rodino-Klapac, Louise R., Goodspeed, Kimberly, Gray, Steven J., Kay, Christine N., Boye, Sanford L., Boye, Shannon E., George, Lindsey A., Salabarria, Stephanie, Corti, Manuela, Byrne, Barry J., Tremblay, Jacques P.

“…Hereditary diseases are caused by mutations in genes, and more than 7,000 rare diseases affect over 30 million Americans. For more than 30 years, hundreds of…”
Get full text

Targeting photoreceptors via intravitreal delivery using novel, capsid-mutated AAV vectors by Kay, Christine N, Ryals, Renee C, Aslanidi, George V, Min, Seok Hong, Ruan, Qing, Sun, Jingfen, Dyka, Frank M, Kasuga, Daniel, Ayala, Andrea E, Van Vliet, Kim, Agbandje-McKenna, Mavis, Hauswirth, William W, Boye, Sanford L, Boye, Shannon E

“…Development of viral vectors capable of transducing photoreceptors by less invasive methods than subretinal injection would provide a major advancement in…”
Get full text

A Comprehensive Review of Retinal Gene Therapy by Boye, Shannon E, Boye, Sanford L, Lewin, Alfred S, Hauswirth, William W

“…Blindness, although not life threatening, is a debilitating disorder for which few, if any treatments exist. Ocular gene therapies have the potential to…”
Get full text

Complement C3-Targeted Gene Therapy Restricts Onset and Progression of Neurodegeneration in Chronic Mouse Glaucoma by Bosco, Alejandra, Anderson, Sarah R., Breen, Kevin T., Romero, Cesar O., Steele, Michael R., Chiodo, Vince A., Boye, Sanford L., Hauswirth, William W., Tomlinson, Stephen, Vetter, Monica L.

“…Dysregulation of the complement system is implicated in neurodegeneration, including human and animal glaucoma. Optic nerve and retinal damage in glaucoma is…”
Get full text

Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial by Ghazi, Nicola G., Abboud, Emad B., Nowilaty, Sawsan R., Alkuraya, Hisham, Alhommadi, Abdulrahman, Cai, Huimin, Hou, Rui, Deng, Wen-Tao, Boye, Sanford L., Almaghamsi, Abdulrahman, Al Saikhan, Fahad, Al-Dhibi, Hassan, Birch, David, Chung, Christopher, Colak, Dilek, LaVail, Matthew M., Vollrath, Douglas, Erger, Kirsten, Wang, Wenqiu, Conlon, Thomas, Zhang, Kang, Hauswirth, William, Alkuraya, Fowzan S.

“…MERTK is an essential component of the signaling network that controls phagocytosis in retinal pigment epithelium (RPE), the loss of which results in…”
Get full text

Improving retinal vascular endothelial cell tropism through rational rAAV capsid design by Periasamy, Ramesh, Patel, Dwani D, Boye, Sanford L, Boye, Shannon E, Lipinski, Daniel M

“…Vascular endothelial cells (VEC) are essential for retinal homeostasis and their dysfunction underlies pathogenesis in diabetic retinopathy (DR) and exudative…”
Get full text

Promotion of endoplasmic reticulum retrotranslocation by overexpression of E3 ubiquitin‐protein ligase synoviolin 1 reduces endoplasmic reticulum stress and preserves cone photoreceptors in cyclic nucleotide‐gated channel deficiency by Yang, Fan, Ma, Hongwei, Boye, Sanford L., Boye, Shannon E., Ding, Xi‐Qin

“…Cone photoreceptor cyclic nucleotide‐gated (CNG) channels play an essential role in phototransduction and cellular Ca2+ homeostasis. Mutations in genes…”
Get full text

Somatic Gene Editing of GUCY2D by AAV-CRISPR/Cas9 Alters Retinal Structure and Function in Mouse and Macaque by McCullough, K Tyler, Boye, Sanford L, Fajardo, Diego, Calabro, Kaitlyn, Peterson, James J, Strang, Christianne E, Chakraborty, Dibyendu, Gloskowski, Sebastian, Haskett, Scott, Samuelsson, Steven, Jiang, Haiyan, Witherspoon, C Douglas, Gamlin, Paul D, Maeder, Morgan L, Boye, Shannon E

“…Mutations in , the gene encoding retinal guanylate cyclase-1 (retGC1), are the leading cause of autosomal dominant cone-rod dystrophy (CORD6). Significant…”
Get more information

AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia by Pang, Ji-jing, Deng, Wen-Tao, Dai, Xufeng, Lei, Bo, Everhart, Drew, Umino, Yumiko, Li, Jie, Zhang, Keqing, Mao, Song, Boye, Sanford L, Liu, Li, Chiodo, Vince A, Liu, Xuan, Shi, Wei, Tao, Ye, Chang, Bo, Hauswirth, William W

“…Achromatopsia is a rare autosomal recessive disorder which shows color blindness, severely impaired visual acuity, and extreme sensitivity to bright light…”
Get full text

Gene delivery to mitochondria by targeting modified adenoassociated virus suppresses Leber’s hereditary optic neuropathy in a mouse model by Yu, Hong, Koilkonda, Rajeshwari D, Chou, Tsung-Han, Porciatti, Vittorio, Ozdemir, Sacide S, Chiodo, Vince, Boye, Sanford L, Boye, Shannon E, Hauswirth, William W, Lewin, Alfred S, Guy, John

“…To introduce DNA into mitochondria efficiently, we fused adenoassociated virus capsid VP2 with a mitochondrial targeting sequence to carry the mitochondrial…”
Get full text

β-secretase 1 overexpression by AAV-mediated gene delivery prevents retina degeneration in a mouse model of age-related macular degeneration by Qi, Xiaoping, Francelin, Carolina, Mitter, Sayak, Boye, Sanford L., Gu, Hongmei, Quigley, Judith, Grant, Maria B., Boulton, Michael E.

“…We reported previously that β-site amyloid precursor protein cleaving enzyme (BACE1) is strongly expressed in the normal retina and that BACE1−/− mice develop…”
Get full text

SARM1 depletion rescues NMNAT1-dependent photoreceptor cell death and retinal degeneration by Sasaki, Yo, Kakita, Hiroki, Kubota, Shunsuke, Sene, Abdoulaye, Lee, Tae Jun, Ban, Norimitsu, Dong, Zhenyu, Lin, Joseph B, Boye, Sanford L, DiAntonio, Aaron, Boye, Shannon E, Apte, Rajendra S, Milbrandt, Jeffrey

“…Leber congenital amaurosis type nine is an autosomal recessive retinopathy caused by mutations of the NAD synthesis enzyme NMNAT1. Despite the ubiquitous…”
Get full text

Optimization of Capillary-Based Western Blotting for MYO7A by Calabro, Kaitlyn R, Boye, Sanford L, Boye, Shannon E

“…Myosin VIIA (MYO7A)-associated Usher syndrome type 1B (USH1B) is a severe disorder that impacts the auditory, vestibular, and visual systems of affected…”
Get more information

Small GTPases Rab8a and Rab11a Are Dispensable for Rhodopsin Transport in Mouse Photoreceptors by Ying, Guoxin, Gerstner, Cecilia D, Frederick, Jeanne M, Boye, Sanford L, Hauswirth, William W, Baehr, Wolfgang

“…Rab11a and Rab8a are ubiquitous small GTPases shown as required for rhodopsin transport in Xenopus laevis and zebrafish photoreceptors by dominant negative…”
Get full text

Impact of Heparan Sulfate Binding on Transduction of Retina by Recombinant Adeno-Associated Virus Vectors by Boye, Sanford L, Bennett, Antonette, Scalabrino, Miranda L, McCullough, K Tyler, Van Vliet, Kim, Choudhury, Shreyasi, Ruan, Qing, Peterson, James, Agbandje-McKenna, Mavis, Boye, Shannon E

“…Adeno-associated viruses (AAVs) currently are being developed to efficiently transduce the retina following noninvasive, intravitreal (Ivt) injection. However,…”
Get full text

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics by Cideciyan, Artur V, Aleman, Tomas S, Boye, Sanford L, Schwartz, Sharon B, Kaushal, Shalesh, Roman, Alejandro J, Pang, Ji-jing, Sumaroka, Alexander, Windsor, Elizabeth A.M, Wilson, James M, Flotte, Terence R, Fishman, Gerald A, Heon, Elise, Stone, Edwin M, Byrne, Barry J, Jacobson, Samuel G, Hauswirth, William W

“…The RPE65 gene encodes the isomerase of the retinoid cycle, the enzymatic pathway that underlies mammalian vision. Mutations in RPE65 disrupt the retinoid…”
Get full text

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa by Beltran, William A., Cideciyan, Artur V., Lewin, Alfred S., Iwabe, Simone, Khanna, Hemant, Sumaroka, Alexander, Chiodo, Vince A., Fajardo, Diego S., Román, Alejandro J., Deng, Wen-Tao, Swider, Malgorzata, Alemán, Tomas S., Boye, Sanford L., Genini, Sem, Swaroop, Anand, Hauswirth, William W., Jacobson, Samuel G., Aguirre, Gustavo D.

“…Hereditary retinal blindness is caused by mutations in genes expressed in photoreceptors or retinal pigment epithelium. Gene therapy in mouse and dog models of…”
Get full text

SubILM Injection of AAV for Gene Delivery to the Retina by Gamlin, Paul D, Alexander, John J, Boye, Sanford L, Witherspoon, C Douglas, Boye, Shannon E

“…Adeno-associated virus (AAV) has emerged as the vector of choice for delivering genes to the retina. Indeed, the first gene therapy to receive FDA approval in…”
Get more information

Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosis by Aguirre, Gustavo D., Cideciyan, Artur V., Dufour, Valérie L., Ripolles-García, Ana, Sudharsan, Raghavi, Swider, Malgorzata, Nikonov, Roman, Iwabe, Simone, Boye, Sanford L., Hauswirth, William W., Jacobson, Samuel G., Beltran, William A.

“…The inherited childhood blindness caused by mutations in NPHP5, a form of Leber congenital amaurosis, results in abnormal development, dysfunction, and…”
Get full text

Inhibitor of apoptosis-stimulating protein of p53 (iASPP) is required for neuronal survival after axonal injury by Wilson, Ariel M, Chiodo, Vince A, Boye, Sanford L, Brecha, Nicholas C, Hauswirth, William W, Di Polo, Adriana

“…The transcription factor p53 mediates the apoptosis of post-mitotic neurons exposed to a wide range of stress stimuli. The apoptotic activity of p53 is tightly…”
Get full text