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PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation

Proceedings of the National Academy of Sciences - PNAS, 2020-05, Vol.117 (18), p.9922-9931

2020

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Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy

Scientific reports, 2017-04, Vol.7 (1), p.46098-46098, Article 46098

2017

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Structural view of G protein-coupled receptor signaling in the retinal rod outer segment

Trends in biochemical sciences (Amsterdam. Regular ed.), 2023-02, Vol.48 (2), p.172-186

2023

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Reversal of end-stage retinal degeneration and restoration of visual function by photoreceptor transplantation

Proceedings of the National Academy of Sciences - PNAS, 2013-01, Vol.110 (3), p.1101-1106

2013

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LKB1 and AMPK regulate synaptic remodeling in old age

Nature neuroscience, 2014-09, Vol.17 (9), p.1190-1197

2014

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Rescue of mutant rhodopsin traffic by metformin-induced AMPK activation accelerates photoreceptor degeneration

Human molecular genetics, 2017-01, Vol.26 (2), p.305-319

2017

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Glucose uptake by GLUT1 in photoreceptors is essential for outer segment renewal and rod photoreceptor survival

The FASEB journal, 2022-08, Vol.36 (8), p.e22428-n/a

2022

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P23H opsin knock-in mice reveal a novel step in retinal rod disc morphogenesis

Human molecular genetics, 2014-04, Vol.23 (7), p.1723-1741

2014

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ARL3 regulates trafficking of prenylated phototransduction proteins to the rod outer segment

Human molecular genetics, 2016-05, Vol.25 (10), p.2031-2044

2016

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Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

Human molecular genetics, 2011-04, Vol.20 (7), p.1411-1423

2011

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Initiation of rod outer segment disc formation requires RDS

PloS one, 2014-06, Vol.9 (6), p.e98939-e98939

2014

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Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis caused by GUCY2D Mutations

American journal of ophthalmology, 2017-05, Vol.177, p.44-57

2017

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Rod Outer Segment Development Influences AAV-Mediated Photoreceptor Transduction After Subretinal Injection

Human gene therapy, 2017-06, Vol.28 (6), p.464

2017

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Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants

Scientific reports, 2017-05, Vol.7 (1), p.2321-13, Article 2321

2017

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The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease

Ophthalmology (Rochester, Minn.), 2018-01, Vol.125 (1), p.89-99

2018

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Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

The Journal of clinical investigation, 2011-06, Vol.121 (6), p.2169-2180

2011

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A large animal model for CNGB1 autosomal recessive retinitis pigmentosa

PloS one, 2013-08, Vol.8 (8), p.e72229

2013

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Combined Optic Atrophy and Rod–Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype

Journal of neuro-ophthalmology, 2021-09, Vol.41 (3), p.e290-e292

2021

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Retinoschisin Gene Therapy and Natural History in the Rs1h-KO Mouse: Long-term Rescue from Retinal Degeneration

Investigative ophthalmology & visual science, 2007-08, Vol.48 (8), p.3837-3845

2007

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Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization

Investigative ophthalmology & visual science, 2012-04, Vol.53 (4), p.1883-1894

2012

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Functional expression of electron transport chain complexes in mouse rod outer segments

Biochimie, 2014-07, Vol.102, p.78-82

2014

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Origin of fundus hyperautofluorescent spots and their role in retinal degeneration in a mouse model of Goldmann-Favre syndrome

Disease models & mechanisms, 2013-09, Vol.6 (5), p.1113-1122

2013

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Mutant ELOVL4 that causes autosomal dominant stargardt-3 macular dystrophy is misrouted to rod outer segment disks

Investigative ophthalmology & visual science, 2014-05, Vol.55 (6), p.3669-3680

2014

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Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort

Experimental eye research, 2021-01, Vol.202, p.108389-108389, Article 108389

2021

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Differences in RDS trafficking, assembly and function in cones versus rods: insights from studies of C150S-RDS

Human molecular genetics, 2010-12, Vol.19 (24), p.4799-4812

2010

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PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation

Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy

Structural view of G protein-coupled receptor signaling in the retinal rod outer segment

Reversal of end-stage retinal degeneration and restoration of visual function by photoreceptor transplantation

LKB1 and AMPK regulate synaptic remodeling in old age

Rescue of mutant rhodopsin traffic by metformin-induced AMPK activation accelerates photoreceptor degeneration

Glucose uptake by GLUT1 in photoreceptors is essential for outer segment renewal and rod photoreceptor survival

P23H opsin knock-in mice reveal a novel step in retinal rod disc morphogenesis

ARL3 regulates trafficking of prenylated phototransduction proteins to the rod outer segment

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

Initiation of rod outer segment disc formation requires RDS

Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis caused by GUCY2D Mutations

Rod Outer Segment Development Influences AAV-Mediated Photoreceptor Transduction After Subretinal Injection

Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants

The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

A large animal model for CNGB1 autosomal recessive retinitis pigmentosa

Combined Optic Atrophy and Rod–Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype

Retinoschisin Gene Therapy and Natural History in the Rs1h-KO Mouse: Long-term Rescue from Retinal Degeneration

Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization

Functional expression of electron transport chain complexes in mouse rod outer segments

Origin of fundus hyperautofluorescent spots and their role in retinal degeneration in a mouse model of Goldmann-Favre syndrome

Mutant ELOVL4 that causes autosomal dominant stargardt-3 macular dystrophy is misrouted to rod outer segment disks

Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort

Differences in RDS trafficking, assembly and function in cones versus rods: insights from studies of C150S-RDS

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