NUBPL, Mitochondrial Complex 1 Deficiency

Team NUBPL Foundation Giving Page
What is NUBPL
It was discovered in 2010 that mutations in the NUBPL gene are a cause of Mitochondrial Complex 1 Deficiency. Iron-sulfur protein NUBPL, also known as nucleotide-binding protein like, is an iron-sulfur (Fe/S) protein that, in humans, is encoded by the NUBPL gene, located on chromosome 14q12.
Million Dollar Bike Ride – DOUBLE your donation

Research dollars are very difficult to come by for rare diseases like NUBPL. There are zero treatments and the disease is progressive. The Million Dollar Bike Ride is an incredible opportunity to raise desperately needed funding for NUBPL research for the discovery of a treatment breakthrough or cure. If we raise a minimum of $20,000, our efforts will be matched dollar-for-dollar up to $30,000.

We cannot fund NUBPL research without the support of individuals like you. Together, we can push science in the direction of treatments and a cure.

Clinical symptoms include the following:

  • Onset neurological symptoms between 3-18 months
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Speech articulation difficulty
  • Cerebellar dysfunction: Progressive cerebellar & pons hypoplasia