Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor beta Signaling

B.V. Johnson, R. Kumar, S. Oishi, S. Alexander, M. Kasherman, M.S. Vega, A. Ivancevic, A. Gardner, D. Domingo, M. Corbett, E. Parnell, S. Yoon, T. Oh, M. Lines, H. Lefroy, U. Kini, M. Van Allen, S. Gronborg, S. Mercier, S. KuryS. Bezieau, L. Pasquier, M. Raynaud, A. Afenjar, T.B. de Villemeur, B. Keren, J. Desir, L. Van Maldergem, M. Marangoni, N. Dikow, D.A. Koolen, P.M. VanHasselt, M. Weiss, P. Zwijnenburg, J. Sa, C.F. Reis, C. Lopez-Otin, O. Santiago-Fernandez, A. Fernandez-Jaen, A. Rauch, K. Steindl, P. Joset, A. Goldstein, S. Madan-Khetarpal, E. Infante, E. Zackai, C. Mcdougall, V. Narayanan, K. Ramsey, S. Mercimek-Andrews, Undiagnosed Diseases Network, Margot Reijnders

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)100-112
Number of pages13
JournalBiological Psychiatry
Volume87
Issue number2
DOIs
Publication statusPublished - 15 Jan 2020

Keywords

  • brain malformation
  • cell-migration
  • deubiquitinating enzyme
  • deubiquitylating enzyme
  • fam/usp9x
  • hippocampus
  • in-vitro
  • intellectual disability
  • interacts
  • liquid facets
  • neurodevelopmental disorder
  • of-function mutations
  • phenotype
  • tgf beta
  • usp9x
  • DEUBIQUITINATING ENZYME
  • Deubiquitylating enzyme
  • Neurodevelopmental disorder
  • OF-FUNCTION MUTATIONS
  • LIQUID FACETS
  • Brain malformation
  • INTELLECTUAL DISABILITY
  • IN-VITRO
  • INTERACTS
  • TGF beta
  • USP9X
  • PHENOTYPE
  • CELL-MIGRATION
  • DEUBIQUITYLATING ENZYME
  • Hippocampus
  • FAM/USP9X

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