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Biochemistry and Molecular Biology August 2024

Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies

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Sigrid Aslaksen; Ingvild Aukrust; Laurie Molday; Josephine Prener Holtan; Ragnhild Wivestad Jansson; Siren Berland; Eyvind Rødahl; Cecilie Bredrup; Ragnheiður Bragadóttir; Eirik Bratland; Robert S. Molday; Per Morten Knappskog
TAGS: abca4 gene, phenotype
Invest. Ophthalmol. Vis. Sci.. 2024; 65(10):2. https://doi.org/10.1167/iovs.65.10.2

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Identification of novel variants in ABCA4 -related retinopathies with structural re-assessment of variants of uncertain significance

Cheryl Y Gregory-Evans; Olubayo U Kolawole; Robert S Molday; Kevin Gregory-Evans

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5288.

ARVO Annual Meeting Abstract June 2024

Lipid nanoparticle delivery of adenine base editors as a potential treatment for inherited retinal diseases

Victoria AC Palmgren; Miffy Hok Yan Cheng; Tiffany Carlaw; Tessa Morin; Colin JD Ross; Pieter R Cullis; Robert S Molday

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6056.

ARVO Annual Meeting Abstract June 2024

Functional characterization of ABCA4 missense variants aids variant interpretation and phenotype prediction in individuals with ABCA4-retinal dystrophies.

Sigrid Aslaksen; Ingvild Aukrust; Laurie L Molday; Josephine Prener Holtan; Ragnhild Wivestad Jansson; Siren Berland; Eyvind Rodahl; Cecilie Bredrup; Ragnheidur Bragadóttir; Eirik Bratland; Robert S Molday; Per Knappskog

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6028.

ARVO Annual Meeting Abstract June 2023

Stargardt disease-associated in-frame exon 17 skipping in ABCA4 results in partial ABCA4 function

Laurie Molday; Melita Kaltak; Rocio Blanco-Garavito; Claire-Marie Dhaenens; Eric Souied; Gerard Platenburg; Jim Swildens; Robert S Molday; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4499.

ARVO Annual Meeting Abstract June 2023

Retinal-phospholipid Schiff-base conjugates and their interaction with ABCA4, the ABC transporter involved in the visual cycle and Stargardt disease

Tongzhou Xu; Laurie L. Molday; Robert S Molday

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4433.

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. https://doi.org/10.1167/tvst.9.7.2

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.

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.

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.

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.

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.

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.

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. 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.

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.

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.

Review February 2015

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

PDF

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. 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.

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.

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Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies

Identification of novel variants in ABCA4 -related retinopathies with structural re-assessment of variants of uncertain significance

Lipid nanoparticle delivery of adenine base editors as a potential treatment for inherited retinal diseases

Functional characterization of ABCA4 missense variants aids variant interpretation and phenotype prediction in individuals with ABCA4-retinal dystrophies.

Stargardt disease-associated in-frame exon 17 skipping in ABCA4 results in partial ABCA4 function

Retinal-phospholipid Schiff-base conjugates and their interaction with ABCA4, the ABC transporter involved in the visual cycle and Stargardt disease

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

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

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

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

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