Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS Academic Article uri icon

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abstract

  • VPS54 is a component of the Golgi-associated retrograde protein (GARP) complex of vesicle sorting proteins. A missense mutation of Vps54 is responsible for motor neuron disease in the wobbler mouse, but the human gene on chromosome 2p14-15 has not been evaluated as a disease gene. We completely sequenced the 22 coding exons from 96 individuals with sporadic ALS, 96 individuals with familial ALS, and 96 controls. Twenty-one novel SNPs were identified. The non-synonymous variant, T360A, was observed in one patient and 0/910 controls. Several polymorphic non-synonymous SNPs were also observed in patients and controls. These initial data suggest that mutations in VPS54 are not a major cause of ALS.

authors

  • Meisler, Miriam H
  • Russ, Carsten
  • Montgomery, Kate T
  • Greenway, Matthew
  • Ennis, Sean
  • Hardiman, Orla
  • Figlewicz, Denise A
  • Quenneville, Nicole R
  • Conibear, Elizabeth
  • Brown, Robert H

publication date

  • January 2008