Myotonia Congenita Mutation Enhances the Degradation of Human CLC-1 Chloride Channels

Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita

(2012) Sebastian Weinberger et al.   JOURNAL OF PHYSIOLOGY-LONDON

Targeting F508del-CFTR to develop rational new therapies for cystic fibrosis

(2011) Zhi-wei Cai et al.   ACTA PHARMACOLOGICA SINICA

Trafficking Defect and Proteasomal Degradation Contribute to the Phenotype of a Novel KCNH2 Long QT Syndrome Mutation

(2011) Anton Mihic et al.   PLoS One

Protein dislocation from the ER

(2010) Katrin Bagola et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Potentiation of Disease-associated Cystic Fibrosis Transmembrane Conductance Regulator Mutants by Hydrolyzable ATP Analogs

(2010) Haruna Miki et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Protein homeostasis and aging in neurodegeneration

(2010) Peter M. Douglas et al.   JOURNAL OF CELL BIOLOGY

Structure of a Eukaryotic CLC Transporter Defines an Intermediate State in the Transport Cycle

(2010) Liang Feng et al.   SCIENCE

Peripheral Protein Quality Control Removes Unfolded CFTR from the Plasma Membrane

(2010) T. Okiyoneda et al.   SCIENCE

One step at a time: endoplasmic reticulum-associated degradation

(2008) Shruthi S. Vembar et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Adapting Proteostasis for Disease Intervention

(2008) William E. Balch et al.   SCIENCE

F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1

(2007) Hinni Papponen et al.   MUSCLE & NERVE