Search Results - "Aguirre, Gustavo D."

Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives by Garafalo, Alexandra V., Cideciyan, Artur V., Héon, Elise, Sheplock, Rebecca, Pearson, Alexander, WeiYang Yu, Caberry, Sumaroka, Alexander, Aguirre, Gustavo D., Jacobson, Samuel G.

“…Due to improved phenotyping and genetic characterization, the field of ‘incurable’ and ‘blinding’ inherited retinal diseases (IRDs) has moved substantially…”
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Strong upregulation of inflammatory genes accompanies photoreceptor demise in canine models of retinal degeneration by Appelbaum, Tatyana, Santana, Evelyn, Aguirre, Gustavo D

“…We have analyzed the complex pattern of the inflammatory response in early-onset canine models of human retinitis pigmentosa, rcd1, xlpra2 and erd, as well as…”
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Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement by Cideciyan, Artur V., Jacobson, Samuel G., Beltran, William A., Sumaroka, Alexander, Swider, Malgorzata, Iwabe, Simone, Roman, Alejandro J., Olivares, Melani B., Schwartz, Sharon B., Komáromy, András M., Hauswirth, William W., Aguirre, Gustavo D.

“…Leber congenital amaurosis (LCA) associated with retinal pigment epithelium-specific protein 65 kDa (RPE65) mutations is a severe hereditary blindness…”
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Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci by Ripolles-Garcia, Ana, Murgiano, Leonardo, Ziolkowska, Natalia, Marinho, Felipe Pompeo, Roszak, Karolina, Iffrig, Sommer, Aguirre, Gustavo D, Miyadera, Keiko

“…Abstract Canine RPGRIP1-cone-rod dystrophy (CRD), a model for human inherited retinal diseases (IRDs), was originally identified as autosomal recessive…”
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Identification of circular RNAs hosted by the RPGR ORF15 genomic locus by Appelbaum, Tatyana, Aguirre, Gustavo D., Beltran, William A.

“…Mutations in the retina-specific isoform of the gene encoding retinitis pigmentosa GTPase regulator (RPGR orf15 ) cause X-linked retinitis pigmentosa, a severe…”
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Canine retina has a primate fovea-like bouquet of cone photoreceptors which is affected by inherited macular degenerations by Beltran, William A, Cideciyan, Artur V, Guziewicz, Karina E, Iwabe, Simone, Swider, Malgorzata, Scott, Erin M, Savina, Svetlana V, Ruthel, Gordon, Stefano, Frank, Zhang, Lingli, Zorger, Richard, Sumaroka, Alexander, Jacobson, Samuel G, Aguirre, Gustavo D

“…Retinal areas of specialization confer vertebrates with the ability to scrutinize corresponding regions of their visual field with greater resolution. A highly…”
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Formal commentary by Aguirre, Gustavo D, Lohi, Hannes, Kaukonen, Maria, Murgiano, Leonardo

“…[...]the genetic evidence is unable to distinguish between the HIVEP3 and PPT1 variants as potential causes of PRA. For the purposes of diagnosis by breeders…”
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Bestrophinopathy: An RPE-photoreceptor interface disease by Guziewicz, Karina E., Sinha, Divya, Gómez, Néstor M., Zorych, Kathryn, Dutrow, Emily V., Dhingra, Anuradha, Mullins, Robert F., Stone, Edwin M., Gamm, David M., Boesze-Battaglia, Kathleen, Aguirre, Gustavo D.

“…Bestrophinopathies, one of the most common forms of inherited macular degenerations, are caused by mutations in the BEST1 gene expressed in the retinal pigment…”
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Restoration of visual function by expression of a light-gated mammalian ion channel in retinal ganglion cells or ON-bipolar cells by Gaub, Benjamin M., Berry, Michael H., Holt, Amy E., Reiner, Andreas, Kienzler, Michael A., Dolgova, Natalia, Nikonov, Sergei, Aguirre, Gustavo D., Beltran, William A., Flannery, John G., Isacoff, Ehud Y.

“…Most inherited forms of blindness are caused by mutations that lead to photoreceptor cell death but spare second- and third-order retinal neurons. Expression…”
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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…”
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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…”
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Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease by Beltran, William A., Cideciyan, Artur V., Iwabe, Simone, Swider, Malgorzata, Kosyk, Mychajlo S., McDaid, Kendra, Martynyuk, Inna, Ying, Gui-Shuang, Shaffer, James, Deng, Wen-Tao, Boye, Sanford L., Lewin, Alfred S., Hauswirth, William W., Jacobson, Samuel G., Aguirre, Gustavo D.

“…Inherited retinal degenerations cause progressive loss of photoreceptor neurons with eventual blindness. Corrective or neuroprotective gene therapies under…”
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Retinal prolactin isoform PRLΔE1 sustains rod disease in inherited retinal degenerations by Sudharsan, Raghavi, Kwok, Jennifer, Swider, Malgorzata, Sumaroka, Alexander, Aguirre, Gustavo D., Cideciyan, Artur V., Beltran, William A.

“…PRLΔE1 , a retina-specific isoform of prolactin, is expressed in multiple and diverse forms of canine inherited retinal degeneration (IRD). We find that while…”
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Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies by Miyadera, Keiko, Acland, Gregory M, Aguirre, Gustavo D

“…Considerable clinical and molecular variations have been known in retinal blinding diseases in man and also in dogs. Different forms of retinal diseases occur…”
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Up-regulation of tumor necrosis factor superfamily genes in early phases of photoreceptor degeneration by Genini, Sem, Beltran, William A, Aguirre, Gustavo D

“…We used quantitative real-time PCR to examine the expression of 112 genes related to retinal function and/or belonging to known pro-apoptotic, cell survival,…”
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Molecular characterization of MAP9 in the photoreceptor sensory cilia as a modifier in canine RPGRIP1 -associated cone-rod dystrophy by Takahashi, Kei, Kwok, Jennifer C, Sato, Yu, Aguirre, Gustavo D, Miyadera, Keiko

“…Photoreceptors possess a highly specialized primary cilium containing expanded ciliary membrane discs called the outer segment. The photoreceptor cilium is…”
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Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations by Cideciyan, Artur V, Jacobson, Samuel G, Sumaroka, Alexander, Swider, Malgorzata, Krishnan, Arun K, Sheplock, Rebecca, Garafalo, Alexandra V, Guziewicz, Karina E, Aguirre, Gustavo D, Beltran, William A, Matsui, Yoshitsugu, Kondo, Mineo, Heon, Elise

“…The only approved retinal gene therapy is for biallelic RPE65 mutations which cause a recessive retinopathy with a primary molecular defect located at the…”
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scAAVengr, a transcriptome-based pipeline for quantitative ranking of engineered AAVs with single-cell resolution by Öztürk, Bilge E, Johnson, Molly E, Kleyman, Michael, Turunç, Serhan, He, Jing, Jabalameli, Sara, Xi, Zhouhuan, Visel, Meike, Dufour, Valérie L, Iwabe, Simone, Pompeo Marinho, Luis Felipe L, Aguirre, Gustavo D, Sahel, José-Alain, Schaffer, David V, Pfenning, Andreas R, Flannery, John G, Beltran, William A, Stauffer, William R, Byrne, Leah C

“…Adeno-associated virus (AAV)-mediated gene therapies are rapidly advancing to the clinic, and AAV engineering has resulted in vectors with increased ability to…”
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Recombinant AAV-mediated BEST1 transfer to the retinal pigment epithelium: analysis of serotype-dependent retinal effects by Guziewicz, Karina E, Zangerl, Barbara, Komáromy, András M, Iwabe, Simone, Chiodo, Vincent A, Boye, Sanford L, Hauswirth, William W, Beltran, William A, Aguirre, Gustavo D

“…Mutations in the BEST1 gene constitute an underlying cause of juvenile macular dystrophies, a group of retinal disorders commonly referred to as…”
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A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness by Kondo, Mineo, Das, Gautami, Imai, Ryoetsu, Santana, Evelyn, Nakashita, Tomio, Imawaka, Miho, Ueda, Kosuke, Ohtsuka, Hirohiko, Sakai, Kazuhiko, Aihara, Takehiro, Kato, Kumiko, Sugimoto, Masahiko, Ueno, Shinji, Nishizawa, Yuji, Aguirre, Gustavo D, Miyadera, Keiko

“…Congenital stationary night blindness (CSNB) is a non-progressive, clinically and genetically heterogeneous disease of impaired night vision. We report a…”
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