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Retina December 2022

Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations

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Artur V. Cideciyan; Samuel G. Jacobson; Malgorzata Swider; Alexander Sumaroka; Rebecca Sheplock; Arun K. Krishnan; Alexandra V. Garafalo; Karina E. Guziewicz; Gustavo D. Aguirre; William A. Beltran; Elise Heon
TAGS: best1 gene, eye, mutation, photoreceptors, retina, retinal cone, rod photoreceptors, vitelliform dystrophy, fovea centralis, vision
Invest. Ophthalmol. Vis. Sci.. 2022; 63(13):12. https://doi.org/10.1167/iovs.63.13.12

ARVO Annual Meeting Abstract June 2021

The role of a novel scaffold protein in mediating RPE phagocytosis of photoreceptor outer segment

Catharina Grubaugh; Anuradha Dhingra; Brian Thomas Kendrick; Divya Sinha; Brent A. Bell; Hsin-Yao Tang; David Gamm; Gustavo D Aguirre; Kathleen Boesze-Battaglia; Karina E Guziewicz

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2224.

ARVO Annual Meeting Abstract June 2020

Subretinal transplantation and survival of hESC-derived photoreceptor precursor cells in normal canine eyes

Ana Ripolles Garcia; Valerie Dufour; Joe Phillips; Natalia Dolgova; Allison Ludwig; Sara Stuedemann; Svetlana Savina; John H Wolfe; Karina E Guziewicz; Oliver Garden; David M Gamm; Gustavo D Aguirre; William A Beltran

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):796.

ARVO Annual Meeting Abstract June 2020

A naturally-occurring canine model of congenital microphthalmia with multisystemic features

Esha Banerjee; Margret L. Casal; Cynthia O'Connor; Keiko Miyadera; Brian Thomas Kedrick; Petra Werner; Leonardo Murgiano; Gustavo D Aguirre; Karina E Guziewicz

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2229.

ARVO Annual Meeting Abstract June 2020

Development of an Allele-Independent Gene Replacement Therapy for Best Vitelliform Macular Dystrophy Using RNAi Technology

Brianna Bowman Young; Karina E Guziewicz; Alfred S Lewin; william W hauswirth; Cristhian Ildefonso

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2457.

ARVO Annual Meeting Abstract June 2020

A newly recognized canine phenotype of early-onset retinal degeneration

Karina E Guziewicz; Valerie Dufour; Lauren Lew; Brian Thomas Kendrick; Ana Ripolles Garcia; William A Beltran; Artur V Cideciyan; Samuel G Jacobson; Gustavo D Aguirre

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2792.

ARVO Annual Meeting Abstract June 2020

Differential expression of protein tyrosine phosphatases in canine models of retinal degeneration

Catharina Grubaugh; Leonardo Murgiano; Raghavi Sudharsan; Brian Thomas Kedrick; William A Beltran; Karina E Guziewicz; Gustavo D Aguirre

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):5004.

ARVO Annual Meeting Abstract July 2019

Safety and long-term efficacy of AAV2- BEST1 gene augmentation therapy in canine model of Best vitelliform macular dystrophies

Karina E Guziewicz; Artur V Cideciyan; Brian T. Kendrick; Valerie L Dufour; Gordon Ruthel; Andras M Komaromy; Simone Iwabe; William Hauswirth; William A Beltran; Samuel G Jacobson; Gustavo D Aguirre

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5200.

ARVO Annual Meeting Abstract July 2018

BEST1 gene augmentation therapy corrects light-modulated retinal micro-detachments

Karina E Guziewicz; Artur V Cideciyan; William A Beltran; Andras M Komaromy; Valerie Dufour; Malgorzata Swider; Simone Iwabe; Alexander Sumaroka; Brian T Kendrick; Gordon Ruthel; Vince A Chiodo; Elise Heon; William W Hauswirth; Samuel G Jacobson; Gustavo D Aguirre

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4522.

ARVO Annual Meeting Abstract July 2018

Fluorophore Hyperspectral Signatures and Distribution in Canine Best Disease Compared to Analogous Fluorophores in Humans

Taariq Mohammed; Yuehong Tong; Thomas Ach; Martin Hammer; R Theodore Smith; Karina E Guziewicz

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5857.

ARVO Annual Meeting Abstract July 2018

The hyperspectral autofluorescence (AF) differentiation of lipofuscin in the RPE and vitelliform debris of canine bestrophinopathy

Yuehong Tong; Taariq Mohammed; Neel Dey; Thomas Ach; Martin Hammer; R Theodore Smith; Karina E Guziewicz

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5858.

ARVO Annual Meeting Abstract June 2017

Outcome measures for BEST1 gene augmentation therapy: restoration of RPE-photoreceptor interface homeostasis

Karina E Guziewicz; William A Beltran; Artur V Cideciyan; Valerie Liliane Dufour; Andras M Komaromy; Emily McTish; Alfred S Lewin; William W Hauswirth; Samuel G Jacobson; Gustavo D Aguirre

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2273.

ARVO Annual Meeting Abstract September 2016

Bestrophinopathy is an RPE-photoreceptor interface disease

Karina E Guziewicz; William A Beltran; Simone Iwabe; Artur V Cideciyan; Samuel G Jacobson; Anuradha Dhingra; Kathleen Battaglia; Gustavo D Aguirre

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12)

ARVO Annual Meeting Abstract June 2015

Molecular Mechanism of Canine CNGA3 -associated Channelopathies

Karina E Guziewicz; Naoto Tanaka; Emily Vine Dutrow; Keiko Miyadera; Lucie Delemotte; Christopher M. MacDermaid; Christopher J. Dixon; Jacqueline C. Tanaka; Gustavo D Aguirre

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4661.

ARVO Annual Meeting Abstract April 2014

A Missense Mutation in Canine CNGA3 Eliminates Retinal Cone Function: A Novel Model for Achromatopsia

Emily V Dutrow; Naoto Tanaka; Keiko Miyadera; William R Crumley; Shelby L Reinstein; Margret L Casal; Jacqueline C Tanaka; Gustavo D Aguirre; Karina E Guziewicz

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1641.

ARVO Annual Meeting Abstract April 2014

A newly recognized molecule in the Retinal Pigment Epithelium

Karina E Guziewicz; Emily V Dutrow; Keiko Miyadera; Jackie Meyer; Ruchira Singh; Kathleen Boesze-Battaglia; David M Gamm; Gustavo D Aguirre

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):369.

ARVO Annual Meeting Abstract April 2014

Disease-based promoter selection for retinal gene therapy

Gustavo D Aguirre; Sem Genini; Andras M Komaromy; Karina E Guziewicz; William A Beltran

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):838.

ARVO Annual Meeting Abstract March 2012

Canine Bestrophinopathies: Lesion Morphology and Molecular Pathology

Karina E. Guziewicz; Artur V. Cideciyan; William A. Beltran; Barbara Zangerl; Julianna Slavik; Simone Iwabe; Kathleen Boesze-Battaglia; Robert F. Mullins; Samuel G. Jacobson; Gustavo D. Aguirre

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):6888.

ARVO Annual Meeting Abstract March 2012

Common Apoptosis-Related miRNA Expression During Chronic Photoreceptor Cell Death in Canine Models

Sem Genini; Karina E. Guziewicz; William A. Beltran; Gustavo D. Aguirre

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1622.

Biochemistry and Molecular Biology June 2011

Molecular Consequences of BEST1 Gene Mutations in Canine Multifocal Retinopathy Predict Functional Implications for Human Bestrophinopathies

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Karina E. Guziewicz; Julianna Slavik; Sarah J. P. Lindauer; Gustavo D. Aguirre; Barbara Zangerl
TAGS: dog, domestic, mutation, proteins, retinal diseases, rna, messenger, phenotype
Invest. Ophthalmol. Vis. Sci.. 2011; 52(7):4497-4505. https://doi.org/10.1167/iovs.10-6385

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Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations

The role of a novel scaffold protein in mediating RPE phagocytosis of photoreceptor outer segment

Subretinal transplantation and survival of hESC-derived photoreceptor precursor cells in normal canine eyes

A naturally-occurring canine model of congenital microphthalmia with multisystemic features

Development of an Allele-Independent Gene Replacement Therapy for Best Vitelliform Macular Dystrophy Using RNAi Technology

A newly recognized canine phenotype of early-onset retinal degeneration

Differential expression of protein tyrosine phosphatases in canine models of retinal degeneration

Safety and long-term efficacy of AAV2- BEST1 gene augmentation therapy in canine model of Best vitelliform macular dystrophies

BEST1 gene augmentation therapy corrects light-modulated retinal micro-detachments

Fluorophore Hyperspectral Signatures and Distribution in Canine Best Disease Compared to Analogous Fluorophores in Humans

The hyperspectral autofluorescence (AF) differentiation of lipofuscin in the RPE and vitelliform debris of canine bestrophinopathy

Outcome measures for BEST1 gene augmentation therapy: restoration of RPE-photoreceptor interface homeostasis

Bestrophinopathy is an RPE-photoreceptor interface disease

Molecular Mechanism of Canine CNGA3 -associated Channelopathies

A Missense Mutation in Canine CNGA3 Eliminates Retinal Cone Function: A Novel Model for Achromatopsia

A newly recognized molecule in the Retinal Pigment Epithelium

Disease-based promoter selection for retinal gene therapy

Canine Bestrophinopathies: Lesion Morphology and Molecular Pathology

Common Apoptosis-Related miRNA Expression During Chronic Photoreceptor Cell Death in Canine Models

Molecular Consequences of BEST1 Gene Mutations in Canine Multifocal Retinopathy Predict Functional Implications for Human Bestrophinopathies

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