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Patrick Yu-Wai-Man

Newcastle University
Royal Victoria Infirmary
University of Cambridge

172

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5007

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Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

2021
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Mitochondrial Ca2+ Uptake in OPA1 Cells is Upregulated through Functional ER-Mitochondria Coupling

2021 Biophysical Journal
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Gene Therapies for the Treatment of Leber Hereditary Optic Neuropathy.

2021 International Ophthalmology Clinics
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CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs.

2021 Molecular therapy. Nucleic acids
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Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.

2021
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Quantifying inter-organelle membrane contact sites using proximity ligation assay in fixed optic nerve sections.

2021 Experimental Eye Research
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Humoral immune responses to AAV gene therapy in the ocular compartment.

2021 Biological Reviews of The Cambridge Philosophical Society
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Vision-Related Quality of Life and Mental Health in Patients with Leber Hereditary Optic Neuropathy

2021 Investigative Ophthalmology & Visual Science
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Biodistribution of intravitreal Lenadogene Nolparvovec gene therapy in nonhuman primates

2021 Molecular therapy. Methods & clinical development
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High-throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts.

2021 Embo Molecular Medicine
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