Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations

Mutations in the ABCA4 gene are a common cause of autosomal recessive retinal degeneration. All mouse models to date are based on knockouts of Abca4, even though the disease is often caused by missense mutations such as the complex allele L541P;A1038V (PV). We now show that the PV mutation causes se...

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Vydáno v:Hum Mol Genet
Hlavní autoři: Zhang, Ning, Tsybovsky, Yaroslav, Kolesnikov, Alexander V., Rozanowska, Malgorzata, Swider, Malgorzata, Schwartz, Sharon B., Stone, Edwin M., Palczewska, Grazyna, Maeda, Akiko, Kefalov, Vladimir J., Jacobson, Samuel G., Cideciyan, Artur V., Palczewski, Krzysztof
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4424957/
https://ncbi.nlm.nih.gov/pubmed/25712131
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv073
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