Search Results - "GOLDBERG, Andrew F. X"

The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells by Kirschman, Lindsay T., Kolandaivelu, Saravanan, Frederick, Jeanne M., Dang, Loan, Goldberg, Andrew F.X., Baehr, Wolfgang, Ramamurthy, Visvanathan

“…Leber congenital amaurosis (LCA) caused by mutations in Aryl hydrocarbon receptor interacting protein like-1 (Aipl1) is a severe form of childhood blindness…”
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Loss of MPC1 reprograms retinal metabolism to impair visual function by Grenell, Allison, Wang, Yekai, Yam, Michelle, Swarup, Aditi, Dilan, Tanya L., Hauer, Allison, Linton, Jonathan D., Philp, Nancy J., Gregor, Elizabeth, Zhu, Siyan, Shi, Quan, Murphy, Joseph, Guan, Tongju, Lohner, Daniel, Kolandaivelu, Saravanan, Ramamurthy, Visvanathan, Goldberg, Andrew F. X., Hurley, James B., Dua, Jianhai

“…Glucose metabolism in vertebrate retinas is dominated by aerobic glycolysis (the “Warburg Effect”), which allows only a small fraction of glucose-derived…”
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Gene therapy using self-complementary Y733F capsid mutant AAV2/8 restores vision in a model of early onset Leber congenital amaurosis by Ku, Cristy A., Chiodo, Vince A., Boye, Sanford L., Goldberg, Andrew F.X., Li, Tiansen, Hauswirth, William W., Ramamurthy, Visvanathan

“…Defects in the photoreceptor-specific gene aryl hydrocarbon receptor interacting protein-like 1 (Aipl1) are associated with Leber congenital amaurosis (LCA), a…”
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Protective gene expression changes elicited by an inherited defect in photoreceptor structure by Sharma, Yagya V, Cojocaru, Radu I, Ritter, Linda M, Khattree, Nidhi, Brooks, Matthew, Scott, Alison, Swaroop, Anand, Goldberg, Andrew F X

“…Inherited defects in retinal photoreceptor structure impair visual transduction, disrupt relationship with the retinal pigment epithelium (RPE), and compromise…”
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Membrane curvature generation by a C-terminal amphipathic helix in peripherin-2/rds, a tetraspanin required for photoreceptor sensory cilium morphogenesis by Khattree, Nidhi, Ritter, Linda M, Goldberg, Andrew F X

“…Vertebrate vision requires photon absorption by photoreceptor outer segments (OSs), structurally elaborate membranous organelles derived from non-motile…”
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Loss of PRCD alters number and packaging density of rhodopsin in rod photoreceptor disc membranes by Sechrest, Emily R., Murphy, Joseph, Senapati, Subhadip, Goldberg, Andrew F. X., Park, Paul S.-H., Kolandaivelu, Saravanan

“…Progressive rod-cone degeneration (PRCD) is a small protein localized to photoreceptor outer segment (OS) disc membranes. Several mutations in PRCD are linked…”
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ARL13B, a Joubert Syndrome-Associated Protein, Is Critical for Retinogenesis and Elaboration of Mouse Photoreceptor Outer Segments by Dilan, Tanya L, Moye, Abigail R, Salido, Ezequiel M, Saravanan, Thamaraiselvi, Kolandaivelu, Saravanan, Goldberg, Andrew F X, Ramamurthy, Visvanathan

“…Mutations in the Joubert syndrome-associated small GTPase ARL13B are linked to photoreceptor impairment and vision loss. To determine the role of ARL13B in the…”
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Mitochondrial biogenesis and the development of diabetic retinopathy by Santos, Julia M., Tewari, Shikha, Goldberg, Andrew F.X., Kowluru, Renu A.

“…Retinal mitochondria become dysfunctional and their DNA (mtDNA) is damaged in diabetes. The biogenesis of mitochondrial DNA is tightly controlled by…”
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An Intramembrane Glutamic Acid Governs Peripherin/rds Function for Photoreceptor Disk Morphogenesis by Goldberg, Andrew F. X, Ritter, Linda M, Khattree, Nidhi, Peachey, Neal S, Fariss, Robert N, Dang, Loan, Yu, Minzhong, Bottrell, Alyssa R

“…Peripherin/rds (P/rds), the product of the retinal degeneration slow (rds) gene, is a tetraspanin protein that plays a pivotal role for photoreceptor outer…”
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GPR179 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness by Peachey, Neal S., Ray, Thomas A., Florijn, Ralph, Rowe, Lucy B., Sjoerdsma, Trijntje, Contreras-Alcantara, Susana, Baba, Kenkichi, Tosini, Gianluca, Pozdeyev, Nikita, Iuvone, P. Michael, Bojang, Pasano, Pearring, Jillian N., Simonsz, Huibert Jan, van Genderen, Maria, Birch, David G., Traboulsi, Elias I., Dorfman, Allison, Lopez, Irma, Ren, Huanan, Goldberg, Andrew F.X., Nishina, Patsy M., Lachapelle, Pierre, McCall, Maureen A., Koenekoop, Robert K., Bergen, Arthur A.B., Kamermans, Maarten, Gregg, Ronald G.

“…Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive…”
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Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation by Peachey, Neal S, Pearring, Jillian N, Bojang, Jr, Pasano, Hirschtritt, Matthew E, Sturgill-Short, Gwen, Ray, Thomas A, Furukawa, Takahisa, Koike, Chieko, Goldberg, Andrew F X, Shen, Yin, McCall, Maureen A, Nawy, Scott, Nishina, Patsy M, Gregg, Ronald G

“…Mutations in TRPM1 are found in humans with an autosomal recessive form of complete congenital stationary night blindness (cCSNB). The Trpm1(-/-) mouse has…”
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Defective Subunit Assembly Underlies a Digenic Form of Retinitis Pigmentosa Linked to Mutations in Peripherin/rds and Rom-1 by Andrew F. X. Goldberg, Molday, Robert S.

“…Retinitis pigmentosa (RP) is a group of progressive retinal dystrophies that include the most common hereditary degenerative diseases affecting the retina…”
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Molecular basis for photoreceptor outer segment architecture by Goldberg, Andrew F.X., Moritz, Orson L., Williams, David S.

“…To serve vision, vertebrate rod and cone photoreceptors must detect photons, convert the light stimuli into cellular signals, and then convey the encoded…”
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Ca2+ and Mg2+ Influence the Thermodynamics of Peptide-Membrane Interactions by Vasquez-Montes, Victor, Goldberg, Andrew F.X., Thévenin, Damien, Ladokhin, Alexey S.

“…[Display omitted] •Ca2+ and Mg2+ modulate membrane partitioning of polypeptides.•Effects of Ca2+ and Mg2+ cannot be explained by charge screening.•Ca2+ and…”
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Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons by Dilan, Tanya L, Singh, Ratnesh K, Saravanan, Thamaraiselvi, Moye, Abigail, Goldberg, Andrew F X, Stoilov, Peter, Ramamurthy, Visvanathan

“…Abstract Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy characterized by developmental abnormalities and vision loss. To date, mutations in…”
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Multistep peripherin-2/rds self-assembly drives membrane curvature for outer segment disk architecture and photoreceptor viability by Milstein, Michelle L., Cavanaugh, Breyanna L., Roussey, Nicole M., Volland, Stefanie, Williams, David S., Goldberg, Andrew F. X.

“…Rod and cone photoreceptor outer segment (OS) structural integrity is essential for normal vision; disruptions contribute to a broad variety of retinal…”
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A new mouse model for PRPH2 pattern dystrophy exhibits functional compensation prior and subsequent to retinal degeneration by Cavanaugh, Breyanna L, Milstein, Michelle L, Boucher, R Casey, Tan, Sharon X, Hanna, Mario W, Seidel, Adam, Frederiksen, Rikard, Saunders, Thomas L, Sampath, Alapakkam P, Mitton, Kenneth P, Zhang, Dao-Qi, Goldberg, Andrew F X

“…Mutations in PRPH2 are a relatively common cause of sight-robbing inherited retinal degenerations (IRDs). Peripherin-2 (PRPH2) is a photoreceptor-specific…”
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Peripherin diverts ciliary ectosome release to photoreceptor disc morphogenesis by Molday, Robert S, Goldberg, Andrew F X

“…Formation of membrane discs in photoreceptor cells requires evagination of its ciliary plasma membrane by an unknown molecular mechanism. Salinas et al. (2017…”
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ARL3 regulates trafficking of prenylated phototransduction proteins to the rod outer segment by Wright, Zachary C, Singh, Ratnesh K, Alpino, Ryan, Goldberg, Andrew F X, Sokolov, Maxim, Ramamurthy, Visvanathan

“…The small GTPase, ADP-ribosylation factor-like 3 (ARL3), has been proposed to participate in the transport of proteins in photoreceptor cells. Moreover, it has…”
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ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure by Moye, Abigail R, Singh, Ratnesh, Kimler, Victoria A, Dilan, Tanya L, Munezero, Daniella, Saravanan, Thamaraiselvi, Goldberg, Andrew F X, Ramamurthy, Visvanathan

“…The outer segment (OS) of photoreceptor cells is an elaboration of a primary cilium with organized stacks of membranous disks that contain the proteins needed…”
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