Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse model

[1]  V. Sheffield,et al.  Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model , 2022, Disease models & mechanisms.

[2]  V. Sheffield,et al.  Knockout of Bbs10 results in lack of cone electrical function and progressive retinal degeneration of rods and cones , 2022, bioRxiv.

[3]  V. Sheffield,et al.  Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: Past, present and future , 2021, Progress in Retinal and Eye Research.

[4]  T. Aleman,et al.  Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10 , 2021, Investigative ophthalmology & visual science.

[5]  Michael G. Anderson,et al.  Endothelial BBSome is essential for vascular, metabolic, and retinal functions , 2021, Molecular metabolism.

[6]  Nathan A Hotaling,et al.  Loss of Ciliary Gene Bbs8 Results in Physiological Defects in the Retinal Pigment Epithelium , 2021, Frontiers in Cell and Developmental Biology.

[7]  V. Sheffield,et al.  Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome. , 2021, Human molecular genetics.

[8]  V. Sheffield,et al.  The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina , 2020, Scientific Reports.

[9]  Seongjin Seo,et al.  Limited time window for retinal gene therapy in a preclinical model of ciliopathy , 2020, bioRxiv.

[10]  Xiaojie Wang,et al.  Bardet-Biedl Syndrome in rhesus macaques: A nonhuman primate model of retinitis pigmentosa. , 2019, Experimental eye research.

[11]  Seongjin Seo,et al.  The myosin-tail homology domain of centrosomal protein 290 is essential for protein confinement between the inner and outer segments in photoreceptors , 2019, The Journal of Biological Chemistry.

[12]  T. Scheetz,et al.  Correlation between electroretinography, foveal anatomy and visual acuity in albinism , 2019, Documenta Ophthalmologica.

[13]  L. Kim,et al.  Synthetic Adeno-Associated Viral Vector Efficiently Targets Mouse and Nonhuman Primate Retina In Vivo. , 2018, Human gene therapy.

[14]  K. Lechtreck,et al.  The Bardet–Biedl syndrome protein complex is an adapter expanding the cargo range of intraflagellar transport trains for ciliary export , 2018, Proceedings of the National Academy of Sciences.

[15]  P. Stoilov,et al.  Bardet–Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons , 2018, Human molecular genetics.

[16]  V. Sheffield,et al.  BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment , 2017, PLoS genetics.

[17]  A. Nager,et al.  BBSome trains remove activated GPCRs from cilia by enabling passage through the transition zone , 2017, bioRxiv.

[18]  Kathleen A. Marshall,et al.  Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial , 2017, The Lancet.

[19]  Seongjin Seo,et al.  Photoreceptor outer segment as a sink for membrane proteins: hypothesis and implications in retinal ciliopathies. , 2017, Human molecular genetics.

[20]  I. Pinilla,et al.  Astrocytes and Müller Cell Alterations During Retinal Degeneration in a Transgenic Rat Model of Retinitis Pigmentosa , 2015, Front. Cell. Neurosci..

[21]  Ru Xiao,et al.  In Silico Reconstruction of the Viral Evolutionary Lineage Yields a Potent Gene Therapy Vector. , 2015, Cell reports.

[22]  V. Sheffield,et al.  Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet–Biedl syndrome , 2015, Proceedings of the National Academy of Sciences.

[23]  N. Tanimoto,et al.  Electroretinographic assessment of rod- and cone-mediated bipolar cell pathways using flicker stimuli in mice , 2015, Scientific Reports.

[24]  David S. Williams,et al.  A Comparison of Some Organizational Characteristics of the Mouse Central Retina and the Human Macula , 2015, PloS one.

[25]  Michael Bach,et al.  ISCEV Standard for full-field clinical electroretinography (2015 update) , 2014, Documenta Ophthalmologica.

[26]  V. Sheffield,et al.  Overcoming the overexpression toxicity of gene replacement therapy for Bardet Biedl Syndrome type 1 , 2014 .

[27]  V. Sheffield,et al.  Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1. , 2013, Investigative ophthalmology & visual science.

[28]  D. Hood,et al.  Spectral-domain optical coherence tomography measures of outer segment layer progression in patients with X-linked retinitis pigmentosa. , 2013, JAMA ophthalmology.

[29]  E. Mercken,et al.  Metformin improves healthspan and lifespan in mice , 2013, Nature Communications.

[30]  Val C. Sheffield,et al.  BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking , 2013, Journal of Cell Science.

[31]  V. Sheffield,et al.  Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes , 2011, Proceedings of the National Academy of Sciences.

[32]  V. Sheffield,et al.  A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened , 2011, PLoS genetics.

[33]  W. Hauswirth,et al.  Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model , 2011, Proceedings of the National Academy of Sciences.

[34]  V. Sheffield,et al.  BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly , 2010, Proceedings of the National Academy of Sciences.

[35]  P. Treuting,et al.  Lifespan extension in genetically modified mice , 2009, Aging cell.

[36]  J. F. Wright,et al.  Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer. , 2008, Molecular therapy : the journal of the American Society of Gene Therapy.

[37]  V. Sheffield,et al.  Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage. , 2007, Investigative ophthalmology & visual science.

[38]  R. Lewis,et al.  BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus , 2006, Nature Genetics.

[39]  W. Hauswirth,et al.  Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis. , 2006, Molecular therapy : the journal of the American Society of Gene Therapy.

[40]  V. Sheffield,et al.  Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[41]  Annie P. Chiang,et al.  Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[42]  J. Bennett,et al.  Real-time, noninvasive in vivo assessment of adeno-associated virus-mediated retinal transduction. , 1997, Investigative ophthalmology & visual science.

[43]  R. Morris Developments of a water-maze procedure for studying spatial learning in the rat , 1984, Journal of Neuroscience Methods.

[44]  W. Hauswirth,et al.  Gene therapy rescues cone structure and function in the 3-month-old rd12 mouse: a model for midcourse RPE65 leber congenital amaurosis. , 2011, Investigative ophthalmology & visual science.