Journal of Stem Cell Research & Therapy

Angèle Nalbandian

Publications

• Research Article
  Disease-specific Induced Pluripotent Stem Cell Modeling: Insights into the Pathophysiology of Valosin Containing Protein (VCP) Disease
  Author(s): Eric Dec, David Ferguson, Angèle Nalbandian, Matthew Gargus, Veeral Katheria, Abel Ibrahim, Maya Hatch, Prachi Rana, Mary Lan, Katrina J Llewellyn, Hans Keirstead and Virginia E KimonisEric Dec, David Ferguson, Angèle Nalbandian, Matthew Gargus, Veeral Katheria, Abel Ibrahim, Maya Hatch, Prachi Rana, Mary Lan, Katrina J Llewellyn, Hans Keirstead and Virginia E Kimonis
  
  Valosin Containing Protein (VCP) disease is an autosomal dominant disorder caused by mutations in the VCP gene and is associated with progressive muscle weakness and atrophy. Affected individuals exhibit striking scapular winging due to shoulder girdle weakness. Currently, there are no treatments available and patients are dying early from cardiac and respiratory failure, typically in their 40’s and 50’s. The generation of disease-specific induced pluripotent stem cells (iPSC) offers a novel platform to investigate mechanisms of VCP disease and potential treatments similar to other disease models including Amyotrophic Lateral Sclerosis (ALS), Duchenne muscular dystrophy (DMD), Parkinson’s disease, Alzheimer’s disease (AD), Best Disease (BD), and type I juvenile diabetes mellitus (T1DM). Herein, we report the generation and characterization of a human iPSC line .. View More»
  DOI: 10.4172/2157-7633.1000168

  Abstract PDF