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Review June 2020

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

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Debra A. Thompson; Alessandro Iannaccone; Robin R. Ali; Vadim Y. Arshavsky; Isabelle Audo; James W. B. Bainbridge; Cagri G. Besirli; David G. Birch; Kari E. Branham; Artur V. Cideciyan; Steven P. Daiger; Deniz Dalkara; Jacque L. Duncan; Abigail T. Fahim; John G. Flannery; Roberto Gattegna; John R. Heckenlively; Elise Heon; K. Thiran Jayasundera; Naheed W. Khan; Henry Klassen; Bart P. Leroy; Robert S. Molday; David C. Musch; Mark E. Pennesi; Simon M. Petersen-Jones; Eric A. Pierce; Rajesh C. Rao; Thomas A. Reh; Jose A. Sahel; Dror Sharon; Paul A. Sieving; Enrica Strettoi; Paul Yang; David N. Zacks; The Monaciano Consortium
TAGS: outcome measures, retinal diseases, surrogate endpoints, genetics, vision, natural history, ethics, gene therapy
Trans. Vis. Sci. Tech.. 2020; 9(7):2. doi: https://doi.org/10.1167/tvst.9.7.2

ARVO Annual Meeting Abstract July 2019

Dual Adeno-Associated Virus Vector mediated gene therapy for autosomal recessive Stargardt Disease

Frank M Dyka; Laurie L Molday; Vince A Chiodo; Robert S Molday; William Hauswirth

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3402. doi:

ARVO Annual Meeting Abstract July 2019

Functional characterization of Asn965 and Asn1974 variants in the Walker-A motif of ABCA4 associated with Stargardt Disease

Fabian Garces; Laurie L Molday; Gilmar Gutierrez; Robert S Molday

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2333. doi:

ARVO Annual Meeting Abstract July 2018

Biochemical analysis of mutations in transmembrane domain one of ABCA4 responsible for Stargardt Macular Degeneration

Fabian Garces; Robert S Molday

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):367. doi:

ARVO Annual Meeting Abstract July 2018

Identification of protein components of the rod outer segment plasma membrane by label-free protein correlation profiling

Nikolai P Skiba; Laurie Molday; Robert S Molday; Vadim Y Arshavsky

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):605. doi:

ARVO Annual Meeting Abstract July 2018

Molecular Characterization of Missense Mutations in Nucleotide Binding Domains of ABCA4 Associated with Stargardt Disease

Robert S Molday; Laurie Molday

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5392. doi:

ARVO Annual Meeting Abstract July 2018

Pathogenic Mechanisms Responsible for Stargardt Disease Associated with the N965S Missense Mutation in ABCA4

Laurie L Molday; Robert S Molday

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5394. doi:

Biochemistry and Molecular Biology May 2018

Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease

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Fabian Garces; Kailun Jiang; Laurie L. Molday; Heidi Stöhr; Bernhard H. Weber; Christopher J. Lyons; David Maberley; Robert S. Molday
TAGS: adenosine triphosphatases, mutation, phenotype, stargardt's disease, proteins, missense mutation
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2305-2315. doi: https://doi.org/10.1167/iovs.17-23364

ARVO Annual Meeting Abstract September 2016

Clinical, genetic and functional study of ABCA4 mutations in Stargardt patients

Kailun Jiang; Laurie L Molday; Heidi Barbara Stoehr; Bernhard HF Weber; David Maberley; Robert S Molday

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3174. doi:

ARVO Annual Meeting Abstract September 2016

Elucidating the role of Retinal Pigment Epithelium (RPE)-specific ABCA4 in Stargardt disease

Tamara Lee Lenis; Zhichun Jiang; Shanta Sarfare; Andrew Le; Shannan Eddington; Dean Bok; Robert S Molday; Steven Nusinowitz; Michael Redmond; Gabriel H Travis; Roxana A Radu

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3177. doi:

ARVO Annual Meeting Abstract September 2016

Localization and Functional Analysis of ABCA4 Variants Associated with Stargardt Disease

Laurie L Molday; Rando Allikmets; Robert S Molday

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3191. doi:

Review February 2015

Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium

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Debra A. Thompson; Robin R. Ali; Eyal Banin; Kari E. Branham; John G. Flannery; David M. Gamm; William W. Hauswirth; John R. Heckenlively; Alessandro Iannaccone; K. Thiran Jayasundera; Naheed W. Khan; Robert S. Molday; Mark E. Pennesi; Thomas A. Reh; Richard G. Weleber; David N. Zacks; for the Monaciano Consortium
TAGS: retinal degeneration, retinal dystrophies, gene therapy, universities, comprehension, transplantation
Invest. Ophthalmol. Vis. Sci.. 2015; 56(2):918-931. doi: https://doi.org/10.1167/iovs.14-16049

ARVO Annual Meeting Abstract April 2014

The Role of Na + /Ca 2+ , K + exchanger 1 in Mammalian Vision

Frans Vinberg; Tian Wang; Robert S Molday; Jeannie Chen; Vladimir J Kefalov

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):5957. doi:

Retina July 2013

Ablation of the X-Linked Retinitis Pigmentosa 2 ( Rp2 ) Gene in Mice Results in Opsin Mislocalization and Photoreceptor Degeneration

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Linjing Li; Naheed Khan; Toby Hurd; Amiya Kumar Ghosh; Christiana Cheng; Robert Molday; John R. Heckenlively; Anand Swaroop; Hemant Khanna
TAGS: ablation, genes, mice, opsin, photoreceptors, retinitis pigmentosa, tissue degeneration, x-linked inheritance
Invest. Ophthalmol. Vis. Sci.. 2013; 54(7):4503-4511. doi: https://doi.org/10.1167/iovs.13-12140

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2013

Ablation of the X-linked Retinitis Pigmentosa 2 ( Rp2 ) gene in mice results in opsin mistrafficking and photoreceptor degeneration

Linjing Li; Naheed Khan; Toby Hurd; Amiya Ghosh; Christiana Chang; Robert Molday; John Heckenlively; Anand Swaroop; Hemant Khanna

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):295. doi:

ARVO Annual Meeting Abstract June 2013

Impaired formation of RD3-GCAP1-GC1 complex causes Leber congenital Amaurosis type1

Seifollah Azadi; Rahel Zulliger; Robert Molday; Muna Naash

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):734. doi:

ARVO Annual Meeting Abstract March 2012

AAV-mediated Rescue Of Rod Photoreceptors In The Rd3 Mouse Model Of Leber Congenital Amaurosis Type 12 (LCA12)

Laurie L. Molday; P. Yan; H Djajadi; L. Szczgiel; S. Boye; V. Chiodo; M. Sarunic; K. Gregory-Evans; W. W. Hauswirth; R S. Molday

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1902. doi:

ARVO Annual Meeting Abstract March 2012

Disruption of the P4-ATPase Aminophospholipid Flippase Atp8a2 Gene Suggests a Role for Phosphatidylserine in Photoreceptor Outer Segments

Jonathan A. Coleman; Hidayat R. Djajadi; Laurie L. Molday; Robert S. Molday

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):743. doi:

ARVO Annual Meeting Abstract March 2012

ABCA4 Linked To Stargardt Disease is a Novel ABC Transporter of N-retinylidene-phosphatidylethanolamine and Phosphatidylethenolamine

Robert S. Molday; Stepan Lenevich; Faraz Quazi

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):3358. doi:

ARVO Annual Meeting Abstract April 2011

RD3 As A New Modulator Of Retinal Photoreceptor Guanylyl Cyclase (RetGC): A Strong Inhibition Of RetGC Activity And The Effects Of Retinal Disease-linked Mutations

Igor V. Peshenko; Elena V. Olshevskaya; Seifollah Azadi; Laurie S. Molday; Robert Molday; Alexander M. Dizhoor

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):44. doi:

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Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

Dual Adeno-Associated Virus Vector mediated gene therapy for autosomal recessive Stargardt Disease

Functional characterization of Asn965 and Asn1974 variants in the Walker-A motif of ABCA4 associated with Stargardt Disease

Biochemical analysis of mutations in transmembrane domain one of ABCA4 responsible for Stargardt Macular Degeneration

Identification of protein components of the rod outer segment plasma membrane by label-free protein correlation profiling

Molecular Characterization of Missense Mutations in Nucleotide Binding Domains of ABCA4 Associated with Stargardt Disease

Pathogenic Mechanisms Responsible for Stargardt Disease Associated with the N965S Missense Mutation in ABCA4

Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease

Clinical, genetic and functional study of ABCA4 mutations in Stargardt patients

Elucidating the role of Retinal Pigment Epithelium (RPE)-specific ABCA4 in Stargardt disease

Localization and Functional Analysis of ABCA4 Variants Associated with Stargardt Disease

Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium

The Role of Na + /Ca 2+ , K + exchanger 1 in Mammalian Vision

Ablation of the X-Linked Retinitis Pigmentosa 2 ( Rp2 ) Gene in Mice Results in Opsin Mislocalization and Photoreceptor Degeneration

Ablation of the X-linked Retinitis Pigmentosa 2 ( Rp2 ) gene in mice results in opsin mistrafficking and photoreceptor degeneration

Impaired formation of RD3-GCAP1-GC1 complex causes Leber congenital Amaurosis type1

AAV-mediated Rescue Of Rod Photoreceptors In The Rd3 Mouse Model Of Leber Congenital Amaurosis Type 12 (LCA12)

Disruption of the P4-ATPase Aminophospholipid Flippase Atp8a2 Gene Suggests a Role for Phosphatidylserine in Photoreceptor Outer Segments

ABCA4 Linked To Stargardt Disease is a Novel ABC Transporter of N-retinylidene-phosphatidylethanolamine and Phosphatidylethenolamine

RD3 As A New Modulator Of Retinal Photoreceptor Guanylyl Cyclase (RetGC): A Strong Inhibition Of RetGC Activity And The Effects Of Retinal Disease-linked Mutations

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