Associated Papers
Translational readthrough using TRIDs - Achievements and challenges for the treatment of inherited retinal disorders.
Nagel-Wolfrum K et al.
Molecular Aspects of Medicine, 2026
Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia.
Sarkar H et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
Gene Augmentation of CHM Using Non-Viral Episomal Vectors in Models of Choroideremia.
Toualbi L et al.
International Journal of Molecular Sciences, 2023
Oxidative and Endoplasmic Reticulum Stress Represent Novel Therapeutic Targets for Choroideremia.
Sarkar H et al.
Antioxidants (basel, Switzerland), 2023
Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.
Michorowska S
Pharmaceuticals (basel, Switzerland), 2021
REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.
Cunha DL et al.
Jci Insight, 2021
33755601 (PubMed )
Supplement: jciinsight-6-146934-s120.pdf
Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches.
Hagag AM et al.
Eye (london, England), 2021
32467628 (PubMed )
Supplement: 41433_2020_974_MOESM2_ESM.pdf
Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?
Han RC et al.
Expert Opinion on Orphan Drugs, 2021
Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics.
Sarkar H et al.
Human Molecular Genetics, 2019
The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy.
Torriano S et al.
Scientific Reports, 2018
The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.
Simunovic MP et al.
Investigative Ophthalmology & Visual Science, 2016
Clinical and Genetic Features of Choroideremia in Childhood.
Khan KN et al.
Ophthalmology, 2016
Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model.
Moosajee M et al.
Human Molecular Genetics, 2016
A clinical molecular genetic service for United Kingdom families with choroideraemia.
Ramsden SC et al.
European Journal of Medical Genetics, 2013
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