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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Mol Genet
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2015
Gaiak:
Articles
Sarrera elektronikoa: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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak