Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugs

Generation of human iPSC line (UCLi013-A) from a patient with microphthalmia and aniridia, carrying a heterozygous missense mutation c.372C>A p.(Asn124Lys) in PAX6

(2021) Philippa Harding et al.   Stem Cell Research

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts

(2021) Jonathan Eintracht et al.   EBioMedicine

Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia

(2021) Vivienne Kit et al.   JCI Insight

Pathophysiology of aniridia-associated keratopathy: Developmental aspects and unanswered questions

(2021) L. Latta et al.   Ocular Surface

Systematic assessment of variability in the proteome of iPSC derivatives

(2021) Stephanie D. Beekhuis-Hoekstra et al.   Stem Cell Research

2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations

(2020) Carole Trzaska et al.   Nature Communications

Pax6 organizes the anterior eye segment by guiding two distinct neural crest waves

(2020) Masanari Takamiya et al.   PLoS Genetics

Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids

(2020) Amelia Lane et al.   Stem Cell Reports

KIT ligand produced by limbal niche cells under control of SOX10 maintains limbal epithelial stem cell survival by activating the KIT/AKT signalling pathway

(2020) Zhongyuan Su et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

PAX6, modified by SUMOylation, plays a protective role in corneal endothelial injury

(2020) Fei Yu et al.   Cell Death & Disease

Gene dosage manipulation alleviates manifestations of hereditary PAX6 haploinsufficiency in mice

(2020) Behnam Rabiee et al.   Science Translational Medicine

Generation of two human control iPS cell lines (UCLi016-A and UCLi017-A) from healthy donors with no known ocular conditions

(2020) Cécile Méjécase et al.   Stem Cell Research

Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics

(2019) Hajrah Sarkar et al.   HUMAN MOLECULAR GENETICS

Pax 6 Controls Neural Crest Potential of Limbal Niche Cells to Support Self-Renewal of Limbal Epithelial Stem Cells

(2019) Szu-Yu Chen et al.   Scientific Reports

PAX6 mutational status determines aniridia-associated keratopathy phenotype

(2019) Neil Lagali et al.   OPHTHALMOLOGY

Modulation of Wnt/BMP pathways during corneal differentiation of hPSC maintains ABCG2-positive LSC population that demonstrates increased regenerative potential

(2019) Meri Vattulainen et al.   Stem Cell Research & Therapy

The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye

(2019) Dulce Lima Cunha et al.   Genes

The genetics of aniridia — simple things become complicated

(2018) Anna Wawrocka et al.   JOURNAL OF APPLIED GENETICS

Reduction of lipid accumulation rescues Bietti’s crystalline dystrophy phenotypes

(2018) Masayuki Hata et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy

(2018) Simona Torriano et al.   Scientific Reports

Efficient and Scalable Directed Differentiation of Clinically Compatible Corneal Limbal Epithelial Stem Cells from Human Pluripotent Stem Cells

(2018) Heidi Hongisto et al.   Jove-Journal of Visualized Experiments

Expression of retinoic acid signaling components ADH7 and ALDH1A1 is reduced in aniridia limbal epithelial cells and a siRNA primary cell based aniridia model

(2018) Lorenz Latta et al.   EXPERIMENTAL EYE RESEARCH

Mechanism and evidence of nonsense suppression therapy for genetic eye disorders

(2017) Rose Richardson et al.   EXPERIMENTAL EYE RESEARCH

Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients

(2017) David T. Woodley et al.   JOURNAL OF CLINICAL INVESTIGATION

Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa

(2017) Velina S. Atanasova et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs

(2017) Conor M. Ramsden et al.   Scientific Reports

Efficacy of Postnatal In Vivo Nonsense Suppression Therapy in a Pax6 Mouse Model of Aniridia

(2017) Xia Wang et al.   Molecular Therapy-Nucleic Acids

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

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

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model

(2016) Mariya Moosajee et al.   HUMAN MOLECULAR GENETICS

CTCF-Mediated and Pax6-Associated Gene Expression in Corneal Epithelial Cell-Specific Differentiation

(2016) Shanli Tsui et al.   PLoS One

IGF-1 Signaling Plays an Important Role in the Formation of Three-Dimensional Laminated Neural Retina and Other Ocular Structures From Human Embryonic Stem Cells

(2015) Carla B. Mellough et al.   STEM CELLS

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

(2014) Xiufeng Zhong et al.   Nature Communications

Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects

(2013) Cheryl Y. Gregory-Evans et al.   JOURNAL OF CLINICAL INVESTIGATION

Self-Formation of Optic Cups and Storable Stratified Neural Retina from Human ESCs

(2012) Tokushige Nakano et al.   Cell Stem Cell

Rescue of nonsense mutations by amlexanox in human cells

(2012) Sara Gonzalez-Hilarion et al.   Orphanet Journal of Rare Diseases

Pax6: A multi-level regulator of ocular development

(2012) Ohad Shaham et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues

(2008) Almoutassem B Zetoune et al.   BMC GENETICS