Supplementary Materials

Supplementary Material for:

Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel

George K. E. Umanah, Marco Pignatelli, Xiling Yin, Rong Chen, Joshua Crawford, Stewart Neifert, Leslie Scarffe, Adam A. Behensky, Noah Guiberson, Melissa Chang, Erica Ma, Jin Wan Kim, Cibele C. Castro, Xiaobo Mao, Li Chen, Shaida A. Andrabi, Mikhail V. Pletnikov, Ann E. Pulver, Dimitrios Avramopoulos, Antonello Bonci, David Valle, Ted M. Dawson,* Valina L. Dawson*

*Corresponding author. Email: vdawson{at}jhmi.edu (V.L.D.); tdawson{at}jhmi.edu (T.M.D.)

Published 13 December 2017, Sci. Transl. Med. 9, eaah4985 (2017)
DOI: 10.1126/scitranslmed.aah4985

This PDF file includes:

  • Materials and Methods
  • Fig. S1. Thorase variants show no defects in ATPase activity but do show changes in structure.
  • Fig. S2. Thorase variants impair GluA2 and GRIP1 interactions.
  • Fig. S3. Thorase variants impair GluA2 trafficking.
  • Fig. S4. AAV2 Thorase-FLAG expression in mice.
  • Fig. S5. Membrane properties and biophysical features of AMPARs are not affected in prelimbic cortex pyramidal neurons of mice expressing the Thorase variants.
  • Fig. S6. Defects in LTP/LTD in Thorase variant mice.
  • Fig. S7. Impaired social behavior and learning deficits in Thorase variant mice.
  • Fig. S8. Fear conditioning and the effects of Perampanel in Thorase variant mice.
  • Table S1. Summary of ATAD1 variants identified in patients with schizophrenia of Ashkenazi Jewish origin.
  • Table S2. Summary of activities of the Thorase variants.
  • Table S3. Statistical analyses.

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