Browsing HMS Scholarly Articles by Keyword "cystic fibrosis"

Now showing items 1-2 of 2

    • The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations 

      Agrawal, Pankaj; Wang, Ruobing; Li, Hongmei Lisa; Schmitz Abe, Klaus; Simone-Roach, Chantelle; Chen, Jingxin; Shi, Jiahai; Louie, Tin; Sheng, Shaohu; Towne, Meghan C.; Brainson, Christine F.; Matthay, Michael A.; Kim, Carla; Bamshad, Michael; Emond, Mary J.; Gerard, Norma; Kleyman, Thomas R.; Gerard, Craig; Kleyman, Thomas (American Thoracic Society, 2017-12)
      Cystic fibrosis (CF) remains the most lethal genetic disease in the Caucasian population. However, there is great variability in clinical phenotypes and survival times, even among patients harboring the same genotype. We ...

    • TorsinA participates in endoplasmic reticulum-associated degradation 

      Nery, Flávia C.; Armata, Ioanna A.; Farley, Jonathan E.; Cho, JinAh; Yaqub, Uzma; Chen, Pan; da Hora, Cintia Carla; Wang, Qiuyan; Tagaya, Mitsuo; Klein, Christine; Tannous, Bakhos A.; Caldwell, Kim A.; Caldwell, Guy A.; Lencer, Wayne I.; Ye, Yihong; Breakefield, Xandra Owens (Nature Publishing Group, 2012)
      TorsinA is an \(AAA^+\) ATPase located within the lumen of the endoplasmic reticulum and nuclear envelope, with a mutant form causing early onset torsion dystonia (DYT1). Here we report a new function for torsinA in ...