ArticleMolecular and cellular neurosciences2015
Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia.
Article in Molecular and cellular neurosciences, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 9 citations in OpenAlex.
- Expanding phenotypic and genotypic spectrum of PDE6C-associated retinal disorders.Eye (London, England) · 2026Article
- Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?Brain communications · 2024Review
- Biologic that disrupts PDE11A4 homodimerization in hippocampus CA1 reverses age-related cognitive decline of social memories in mice.Neurobiology of aging · 2023Article
- Photoreceptor phosphodiesterase (PDE6): activation and inactivation mechanisms during visual transduction in rods and cones.Pflugers Archiv : European journal of physiology · 2021Review
- PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.Investigative ophthalmology & visual science · 2020Article
- A nonhuman primate model of inherited retinal disease.The Journal of clinical investigation · 2019Article
- PDE11A negatively regulates lithium responsivity.Molecular psychiatry · 2017Article
- Aryl Hydrocarbon Receptor-interacting Protein-like 1 Is an Obligate Chaperone of Phosphodiesterase 6 and Is Assisted by the γ-Subunit of Its Client.The Journal of biological chemistry · 2016Article
- Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia.Case reports in ophthalmologyArticle
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Phosphodiesterase-6 (PDE6) is an essential effector enzyme in vertebrate photoreceptor cells. Mutations in rod and cone PDE6 cause recessive retinitis pigmentosa and achromatopsia, respectively. The mechanisms of missense PDE6 mutations underlying severe visual disorders are poorly understood. To probe these mechanisms, we expressed seven known missense mutants of cone PDE6C in rods of transgenic Xenopus laevis and examined their stability and compartmentalization. PDE6C proteins with mutations in the catalytic domain, H602L and E790K, displayed modestly reduced proteolytic stability, but they were properly targeted to the outer segment of photoreceptor cells. Mutations in the regulatory GAF domains, R104W, Y323N, and P391L led to a proteolytic degradation of the proteins involving a cleavage in the GAFb domain. Lastly, the R29W and M455V mutations residing outside the conserved PDE6 domains produced a pattern of subcellular compartmentalization different from that of PDE6C. Thus, our results suggest a spectrum of mechanisms of missense PDE6C mutations in achromatopsia including catalytic defects, protein mislocalization, or a specific sequence of proteolytic degradation.
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