Works matching DE "SORTING nexins"


Results: 25
    1

    Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.

    Published in:
    Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-70797-2
    By:
    • Bryant, Dale;
    • Seda, Marian;
    • Peskett, Emma;
    • Maurer, Constance;
    • Pomeranz, Gideon;
    • Ghosh, Marcus;
    • Hawkins, Thomas A.;
    • Cleak, James;
    • Datta, Sanchari;
    • Hariri, Hanaa;
    • Eckert, Kaitlyn M.;
    • Jafree, Daniyal J.;
    • Walsh, Claire;
    • Demetriou, Charalambos;
    • Ishida, Miho;
    • Alemán-Charlet, Cristina;
    • Vestito, Letizia;
    • Seselgyte, Rimante;
    • McDonald, Jeffrey G.;
    • Bitner-Glindzicz, Maria
    Publication type:
    Article
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    Loss of sorting nexin 27 contributes to excitatory synaptic dysfunction by modulating glutamate receptor recycling in Down's syndrome.

    Published in:
    Nature Medicine, 2013, v. 19, n. 4, p. 473, doi. 10.1038/nm.3117
    By:
    • Wang, Xin;
    • Zhao, Yingjun;
    • Zhang, Xiaofei;
    • Badie, Hedieh;
    • Zhou, Ying;
    • Mu, Yangling;
    • Loo, Li Shen;
    • Cai, Lei;
    • Thompson, Robert C;
    • Yang, Bo;
    • Chen, Yaomin;
    • Johnson, Peter F;
    • Wu, Chengbiao;
    • Bu, Guojun;
    • Mobley, William C;
    • Zhang, Dongxian;
    • Gage, Fred H;
    • Ranscht, Barbara;
    • Zhang, Yun-wu;
    • Lipton, Stuart A
    Publication type:
    Article
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    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 528, doi. 10.1038/ng.3256
    By:
    • Akizu, Naiara;
    • Ozgul, R Koksal;
    • Sagıroglu, Mahmut Samil;
    • Azam, Matloob;
    • Selim, Laila;
    • Mahmoud, Iman G;
    • Abdel-Hadi, Sawsan;
    • Badawy, Amera El;
    • Sadek, Abdelrahim A;
    • Mojahedi, Faezeh;
    • Kayserili, Hulya;
    • Masri, Amira;
    • Bastaki, Laila;
    • Müller, Ulrich;
    • Cantagrel, Vincent;
    • Desguerre, Isabelle;
    • Casanova, Jean-Laurent;
    • Dursun, Ali;
    • Gunel, Murat;
    • Gabriel, Stacey B
    Publication type:
    Article