A Mutation Associated with Stuttering Alters Mouse Pup Ultrasonic Vocalizations.

ABSTRACT: A promising approach to understanding the mechanistic basis of speech is to study disorders that affect speech without compromising other cognitive or motor functions. Stuttering, also known as stammering, has been linked to mutations in the lysosomal enzyme-targeting pathway, but how this remarkably specific speech deficit arises from mutations in a family of general "cellular housekeeping" genes is unknown. To address this question, we asked whether a missense mutation associated with human stuttering causes vocal or other abnormalities in mice. We compared vocalizations from mice engineered to carry a mutation in the Gnptab (N-acetylglucosamine-1-phosphotransferase subunits alpha/beta) gene with wild-type littermates. We found significant differences in the vocalizations of pups with th

SUBMITTER: Barnes TD 

PROVIDER: S-EPMC5063665 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature