A progressive translational mouse model of human valosin-containing protein disease: the VCP(R155H/+) mouse

Angèle Nalbandian, Katrina J Llewellyn, Mallikarjun Badadani, Hong Z Yin, Christopher Nguyen, Veeral Katheria, Giles Watts, Jogeshwar Mukherjee, Jouni Vesa, Vincent Caiozzo, Tahseen Mozaffar, John H Weiss, Virginia E Kimonis

Research output: Contribution to journalArticlepeer-review

51 Citations (Scopus)


Mutations in the valosin-containing protein (VCP) gene cause hereditary inclusion body myopathy (IBM) associated with Paget disease of bone (PDB), and frontotemporal dementia (FTD). More recently, these mutations have been linked to 2% of familial amyotrophic lateral sclerosis (ALS) cases. A knock-in mouse model offers the opportunity to study VCP-associated pathogenesis.
Original languageEnglish
Pages (from-to)260-70
Number of pages11
JournalMuscle & Nerve
Issue number2
Publication statusPublished - Feb 2013


  • Adenosine Triphosphatases
  • Animals
  • Brain
  • Cell Cycle Proteins
  • Disease Models, Animal
  • Disease Progression
  • Frontotemporal Dementia
  • Mice
  • Mice, Transgenic
  • Motor Neurons
  • Myositis, Inclusion Body
  • Osteitis Deformans
  • Spinal Cord

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