Congratulations to Dr. Chan Choo Yap (Winckler Lab) for “paper of the week” in the Journal of Biological Chemistry

Congratulations to Dr. Chan Choo Yap (Winckler Lab) for having her paper selected as the “paper of the week” for the Dec 23, 2016 issue of the Journal of Biological Chemistry. Dr. Yap carried out analysis on the protein doublecortin (DCX) which is mutated in humans in a neurodevelopmental disorder, called Lissencephaly. The paper dissected the cellular phenotypes of several DCX patient mutations and discovered that distinct DCX alleles caused dysfunction by different cellular mechanisms. In addition to discovering distinct loss-of-function alleles, Dr. Yap found one allele which unexpectedly showed toxic gain-of-function effects in neurons through misfolding and aggregation, causing an increase in autophagy. An image of DCX mutant aggregates in cultured neurons was selected as the cover image for the issue.