ArticleCurrent biology : CB2016
A Mutation Associated with Stuttering Alters Mouse Pup Ultrasonic Vocalizations.
Article in Current biology : CB, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
26 citing papers in PubMed, 60 citations in OpenAlex.
- Phylogenomic analysis of vocal fold length evolution reveals links between vocal and auditory systems in terrestrial mammals.Molecular biology and evolution · 2026Article
- A stuttering-associatedbioRxiv : the preprint server for biology · 2025Article
- Iron dysregulation in mice engineered with a mutation associated with stuttering.bioRxiv : the preprint server for biology · 2025Article
- Mountable miniature microphones to identify and assign mouse ultrasonic vocalizations.Cell reports methods · 2025Article
- Stuttering: Our Current Knowledge, Research Opportunities, and Ways to Address Critical Gaps.Neurobiology of language (Cambridge, Mass.) · 2025Review
- The role of anticipation and neuroticism in developmental stuttering.Frontiers in psychology · 2025Article
- Atypical gut microbiota composition in a mouse model of developmental stuttering.Scientific reports · 2024Article
- Psychedelics in developmental stuttering to modulate brain functioning: a new therapeutic perspective?Frontiers in human neuroscience · 2024Article
- Therapeutic potential of robots for people who stutter: a preliminary study.Frontiers in psychiatry · 2024Article
- Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.Brain : a journal of neurology · 2023Article
- Stuttering as a spectrum disorder: A hypothesis.Current research in neurobiology · 2023Review
- Article
- Blast trauma affects production and perception of mouse ultrasonic vocalizations.The Journal of the Acoustical Society of America · 2022Article
- Dopamine, vocalization, and astrocytes.Brain and language · 2021Article
- Association Between Gray Matter Volume Variations and Energy Utilization in the Brain: Implications for Developmental Stuttering.Journal of speech, language, and hearing research : JSLHR · 2021Article
- Evaluation of recurrentAdvanced genetics (Hoboken, N.J.) · 2021Article
- Stuttering: A Disorder of Energy Supply to Neurons?Frontiers in human neuroscience · 2021Article
- Speech Fluency Improvement in Developmental Stuttering Using Non-invasive Brain Stimulation: Insights From Available Evidence.Frontiers in human neuroscience · 2021Review
- HumanProceedings of the National Academy of Sciences of the United States of America · 2019Article
- Involvement of the Cortico-Basal Ganglia-Thalamocortical Loop in Developmental Stuttering.Frontiers in psychology · 2019Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
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 the human Gnptab stuttering mutation compared to littermate controls. Specifically, we found that mice with the mutation emitted fewer vocalizations per unit time and had longer pauses between vocalizations and that the entropy of the temporal sequence was significantly reduced. Furthermore, Gnptab missense mice were similar to wild-type mice on an extensive battery of non-vocal behaviors. We then used the same language-agnostic metrics for auditory signal analysis of human speech. We analyzed speech from people who stutter with mutations in this pathway and compared it to control speech and found abnormalities similar to those found in the mouse vocalizations. These data show that mutations in the lysosomal enzyme-targeting pathway produce highly specific effects in mouse pup vocalizations and establish the mouse as an attractive model for studying this disorder.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.