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Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.

Paras A PatelLeslie E W LaConteChen LiangThomas CecereDeepa RajanSarika SrivastavaKonark Mukherjee
Published in: Journal of medical genetics (2024)
Loss of CASK function disproportionately affects the cerebellum. Clinical data, however, suggest that CASK may have additional vertebrate-specific function/s that play a role in the mammalian forebrain. Thus, CASK has an ancient function shared between invertebrates and vertebrates as well as novel vertebrate-specific function/s.
Keyphrases
  • small molecule
  • binding protein
  • copy number
  • protein protein