Associated Papers
Protein misfolding and mitochondrial dysfunction in glaucoma.
Venkatesan A et al.
Frontiers in Cell and Developmental Biology, 2025
Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.
Sazhnyev Y et al.
Genes, 2024
38397193 (PubMed )
Supplement: genes-15-00203-s001.zip › genes-2821445-supplementary.xlsx › Sheet1
Myocilin misfolding and glaucoma: A 20-year update.
Saccuzzo EG et al.
Progress in Retinal and Eye Research, 2023
EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.
Collantes ERA et al.
Human Mutation, 2022
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.
Scelsi HF et al.
Human Mutation, 2021
Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma.
Souzeau E et al.
Clinical Genetics, 2015
Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation.
Melki R et al.
Human Mutation, 2003
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