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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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha: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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