Cargando…

Gene Therapy with a Promoter Targeting Both Rods and Cones Rescues Retinal Degeneration Caused by AIPL1 Mutations

AIPL1 is required for the biosynthesis of photoreceptor phosphodiesterase (PDE)1–3. Gene defects in AIPL1 cause a heterogeneous set of conditions ranging from Leber Congenital Amaurosis (LCA), the severest form of early-onset retinal degeneration, to milder forms such as retinitis pigmentosa (RP) an...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sun, Xun, Pawlyk, Basil, Xu, Xiaoyun, Liu, Xiaoqing, Bulgakov, Oleg, Adamian, Michael, Sandberg, Michael A., Khani, Shahrokh C., Tan, Mei-Hong, Smith, Alexander J., Ali, Robin R., Li, Tiansen
Formato:	Texto
Lenguaje:	English
Publicado:	2009
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2804971/ https://www.ncbi.nlm.nih.gov/pubmed/19710705 http://dx.doi.org/10.1038/gt.2009.104

Ejemplares similares

Photoreceptor Rescue by an Abbreviated Human RPGR Gene in a Murine Model of X-linked Retinitis Pigmentosa
por: Pawlyk, Basil S., et al.
Publicado: (2015)

Increased Light Exposure Alleviates One Form of Photoreceptor Degeneration Marked by Elevated Calcium in the Dark
por: Liu, Xiaoqing, et al.
Publicado: (2009)

Rootletin, a novel coiled-coil protein, is a structural component of the ciliary rootlet
por: Yang, Jun, et al.
Publicado: (2002)

Ablation of Whirlin Long Isoform Disrupts the USH2 Protein Complex and Causes Vision and Hearing Loss
por: Yang, Jun, et al.
Publicado: (2010)

AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration
por: Li, David, et al.
Publicado: (2014)

Aipl1 is required for cone photoreceptor function and survival through the stability of Pde6c and Gc3 in zebrafish
por: Iribarne, Maria, et al.
Publicado: (2017)

Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1
por: Lukovic, Dunja, et al.
Publicado: (2020)

Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration
por: Sacristan-Reviriego, Almudena, et al.
Publicado: (2020)

Correction to: “Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors”
Publicado: (2023)

Loss of Foveal Cone Structure Precedes Loss of Visual Acuity in Patients With Rod-Cone Degeneration
por: Bensinger, Ethan, et al.
Publicado: (2019)

Robust cone-mediated signaling persists late into rod photoreceptor degeneration
por: Scalabrino, Miranda L, et al.
Publicado: (2022)

The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6
por: Sacristan-Reviriego, Almudena, et al.
Publicado: (2017)

The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6
por: Sacristan-Reviriego, Almudena, et al.
Publicado: (2018)

Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration
por: Sakuramoto, Hiroyuki, et al.
Publicado: (2013)

Cone rod dystrophies
por: Hamel, Christian P
Publicado: (2007)

The Inherited Blindness Protein AIPL1 Regulates the Ubiquitin-Like FAT10 Pathway
por: Bett, John S., et al.
Publicado: (2012)

A Hybrid Photoreceptor Expressing Both Rod and Cone Genes in a Mouse Model of Enhanced S-Cone Syndrome
por: Corbo, Joseph C, et al.
Publicado: (2005)

SARM1 deficiency promotes rod and cone photoreceptor cell survival in a model of retinal degeneration
por: Ozaki, Ema, et al.
Publicado: (2020)

The Leber Congenital Amaurosis Protein AIPL1 and EB Proteins Co-Localize at the Photoreceptor Cilium
por: Hidalgo-de-Quintana, Juan, et al.
Publicado: (2015)

Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice
por: Parry, David A., et al.
Publicado: (2009)

Correction: A Hybrid Photoreceptor Expressing Both Rod and Cone Genes in a Mouse Model of Enhanced S-Cone Syndrome
por: Corbo, Joseph C, et al.
Publicado: (2008)

Epigenomic landscapes of retinal rods and cones
por: Mo, Alisa, et al.
Publicado: (2016)

Rod and cone interactions in the retina
por: Fain, Gordon, et al.
Publicado: (2018)

Tubby is required for trafficking G protein-coupled receptors to neuronal cilia
por: Sun, Xun, et al.
Publicado: (2012)

Modes of Accessing Bicarbonate for the Regulation of Membrane Guanylate Cyclase (ROS-GC) in Retinal Rods and Cones
por: Makino, Clint L., et al.
Publicado: (2019)

Oncostatin M Protects Rod and Cone Photoreceptors and Promotes Regeneration of Cone Outer Segment in a Rat Model of Retinal Degeneration
por: Xia, Xin, et al.
Publicado: (2011)

Bax-Induced Apoptosis in Leber's Congenital Amaurosis: A Dual Role in Rod and Cone Degeneration
por: Hamann, Séverine, et al.
Publicado: (2009)

Different allelic frequency of progressive rod-cone degeneration in two populations of Labrador Retrievers in Japan
por: TAKANOSU, Masamine
Publicado: (2017)

Assessment of Scotopic Function in Rod–Cone Inherited Retinal Degeneration With the Scotopic Macular Integrity Assessment
por: Jolly, Jasleen K., et al.
Publicado: (2023)

Mouse Ganglion-Cell Photoreceptors Are Driven by the Most Sensitive Rod Pathway and by Both Types of Cones
por: Weng, Shijun, et al.
Publicado: (2013)

DIFFERENTIATION OF RODS AND CONES IN TOTAL DARKNESS
por: Eakin, Richard M.
Publicado: (1965)

THE RENEWAL OF PROTEIN IN RETINAL RODS AND CONES
por: Young, Richard W., et al.
Publicado: (1968)

The Emergence of Rod-Cone Cellular Interaction
por: Aït-Ali, Najate, et al.
Publicado: (2022)

Elimination of a Retinal Riboflavin Binding Protein Exacerbates Degeneration in a Model of Cone-Rod Dystrophy
por: Genc, Ayse M., et al.
Publicado: (2020)

Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model
por: Mayer, Sara K., et al.
Publicado: (2022)

Molecular insights into the maturation of phosphodiesterase 6 by the specialized chaperone complex of HSP90 with AIPL1
por: Yadav, Ravi P., et al.
Publicado: (2022)

Some OFF bipolar cell types make contact with both rods and cones in macaque and mouse retinas
por: Tsukamoto, Yoshihiko, et al.
Publicado: (2014)

An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9
por: Goldstein, Orly, et al.
Publicado: (2010)

Analysis of Early Cone Dysfunction in an In Vivo Model of Rod-Cone Dystrophy
por: Hassall, Mark M., et al.
Publicado: (2020)

Rod‐cone crossover connectome of mammalian bipolar cells
por: Lauritzen, J. Scott, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_a6qqk7csa334vbgiva1agqnoqi