Functional characterization of clcn4 variants associated with x-linked intellectual disability and epilepsy

HIGHLIGHTS

  • who: Raul E. Guzman from the Institute of Biological Information Processing, Molecular and Cellular Physiology (IBI-1), Forschungszentrum Ju00fclich, Ju00fclich, Germany have published the Article: Functional Characterization of CLCN4 Variants Associated With X-linked Intellectual Disability and Epilepsy, in the Journal: (JOURNAL)
  • what: The authors report changes in transport, subcellular localization, protein stability, and oligomerization capacity of the ClC4 variants.
  • how: All constructs were verified by sequencing the complete open_reading_frame and two independent recombinants from each transformation were tested for possible functional differences. Data were analyzed using a combination of FitMaster (HEKA) Origin . . .

     

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