Generation and Characterization of Induced Pluripotent Stem Cells and Retinal Organoids From a Leber’s Congenital Amaurosis Patient With Novel RPE65 Mutations

Generation of Retinal Organoids with Mature Rods and Cones from Urine-Derived Human Induced Pluripotent Stem Cells

(2018) Guilan Li et al.   Stem Cells International

Gene Correction Reverses Ciliopathy and Photoreceptor Loss in iPSC-Derived Retinal Organoids from Retinitis Pigmentosa Patients

(2018) Wen-Li Deng et al.   Stem Cell Reports

Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee

(2017) Razek Georges Coussa et al.   OPHTHALMIC GENETICS

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

(2016) David A. Parfitt et al.   Cell Stem Cell

Let There Be Light: Gene and Cell Therapy for Blindness

(2016) Deniz Dalkara et al.   HUMAN GENE THERAPY

Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing

(2016) Isabella Bernardis et al.   Biomed Research International

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

(2015) Galuh D N Astuti et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

(2015) James W.B. Bainbridge et al.   NEW ENGLAND JOURNAL OF MEDICINE

Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases

(2015) Luke A. Wiley et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial

(2015) Budd A. Tucker et al.   Translational Research

Rescue of Enzymatic Function for Disease-associated RPE65 Proteins Containing Various Missense Mutations in Non-active Sites

(2014) Songhua Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

(2014) Marco Biasini et al.   NUCLEIC ACIDS RESEARCH

From confluent human iPS cells to self-forming neural retina and retinal pigmented epithelium

(2014) S. Reichman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Generation of three-dimensional retinal tissue with functional photoreceptors from human iPSCs

(2014) Xiufeng Zhong et al.   Nature Communications

Generating a Non-Integrating Human Induced Pluripotent Stem Cell Bank from Urine-Derived Cells

(2013) Yanting Xue et al.   PLoS One

Generation of Isogenic Pluripotent Stem Cells Differing Exclusively at Two Early Onset Parkinson Point Mutations

(2011) Frank Soldner et al.   CELL

Generation of Induced Pluripotent Stem Cells from Urine

(2011) T. Zhou et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Modeling early retinal development with human embryonic and induced pluripotent stem cells

(2009) J. S. Meyer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Impact of Retinal Disease-Associated RPE65 Mutations on Retinoid Isomerization†

(2008) Grzegorz Bereta et al.   BIOCHEMISTRY

Rod photoreceptor differentiation in fetal and infant human retina

(2008) Anita Hendrickson et al.   EXPERIMENTAL EYE RESEARCH

Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

(2008) James W.B. Bainbridge et al.   NEW ENGLAND JOURNAL OF MEDICINE