Intersectin 1 contributes to phenotypes in vivo: Implications for Down's syndrome

Michael P. Hunter, Marianela Nelson, Michael Kurzer, Xuerong Wang, Richard J. Kryscio, Elizabeth Head, Graziano Pinna, John P. O'Bryan

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


Intersectin 1 (ITSN1) is a human chromosome 21 (HSA21) gene product encoding a multidomain scaffold protein that functions in endocytosis, signal transduction, and is implicated in Down's syndrome, Alzheimer's Disease, and potentially other neurodegenerative diseases through activation of c-Jun N-terminal kinase. We report for the first time that ITSN1 proteins are elevated in individuals with Down's syndrome of varying ages. However, ITSN1 levels decreased in aged cases with Down's syndrome with Alzheimer's disease-like neuropathology. Analysis of a novel ITSN1 transgenic mouse reveals that ITSN1 overexpression results in a sex-dependent decrease in locomotor activity. This study reveals a link between overexpression of specific ITSN1 isoforms and behavioral phenotypes and has implications for human neurodegenerative diseases such as Down's syndrome and Alzheimer's disease.

Original languageEnglish
Pages (from-to)767-772
Number of pages6
Issue number15
StatePublished - Oct 26 2011


  • EH domain
  • SH3 domain
  • endocytosis
  • mitogen activated protein kinase
  • neurodegeneration
  • scaffold protein
  • signal transduction

ASJC Scopus subject areas

  • General Neuroscience


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