Intersectin 1 contributes to phenotypes in vivo
Copyright policy )Intersectin 1 contributes to phenotypes in vivo
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.
- University of Illinois at Chicago United States
- University of Kentucky United States
- University of Illinois at Urbana Champaign United States
Adult, Male, Adolescent, Blotting, Western, Brain, Infant, Mice, Transgenic, Middle Aged, Motor Activity, Adaptor Proteins, Vesicular Transport, Disease Models, Animal, Mice, Phenotype, Alzheimer Disease, Child, Preschool, Animals, Humans, Female, Down Syndrome, Child
Adult, Male, Adolescent, Blotting, Western, Brain, Infant, Mice, Transgenic, Middle Aged, Motor Activity, Adaptor Proteins, Vesicular Transport, Disease Models, Animal, Mice, Phenotype, Alzheimer Disease, Child, Preschool, Animals, Humans, Female, Down Syndrome, Child
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