C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

Abstract

A G4C2 repeat expansion in C9ORF72 is known to be the major genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). However, a lack of animal models recapitulating key disease features has hindered efforts to understand and prevent c9FTD/ALS-related neurodegeneration. Until now. Chew et al. describe a mouse model that mimics both neuropathological and clinical phenotypes of c9FTD/ALS.

Document Details

Document Type
Pub Defense Publication
Publication Date
Jun 05, 2015
Source ID
10.1126/science.aaa9344

Entities

People

  • Aishe Kurti
  • Amelia Johnston
  • Caroline Stetler
  • Chris W. Lee
  • Dennis W. Dickson
  • Dieter Edbauer
  • Emilie A. Perkerson
  • Ena C. Whitelaw
  • Hiroki Sasaguri
  • Jeannette N. Stankowski
  • Jeannie Chew
  • John D. Fryer
  • Karen Jansen-West
  • Karen Overstreet
  • Kevin B. Boylan
  • Kevin F. Bieniek
  • Leonard Petrucelli
  • Lillian M. Daughrity
  • Linda Rousseau
  • Melissa E. Murray
  • Mercedes Prudencio
  • Monica Castanedes-Casey
  • Pamela Desaro
  • Peter O. Bauer
  • Rosa Rademakers
  • Tania F. Gendron
  • Yong-Jie Zhang

Organizations

  • ALS Association
  • Alzheimer's Association
  • German Center for Neurodegenerative Diseases
  • Ludwig-Maximilians-Universität München
  • Mayo Clinic
  • Mayo Clinic Graduate School of Biomedical Sciences
  • National Institute of Neurological Disorders and Stroke
  • National Institute on Aging
  • National Institutes of Health
  • Seventh Framework Programme
  • Target ALS
  • United States Department of Defense

Tags

Fields of Study

  • Biology

Readers

  • Molecular and Cellular Biology
  • Molecular and genetic basis of cancer.
  • Traumatic Brain Injury (TBI) and Cognitive Aging in the Guam and Border Populations Affected by Alzheimer's Disease and Tau-Associated Dementias.

Technology Areas

  • Biotechnology