{"doi":"10.1101/2025.08.08.669441","title":"Non-vocal motor deficits in a transgenic mouse model linked to stuttering disorders","abstract":"ABSTRACT Stuttering is a neurodevelopmental disorder characterized by involuntary disruptions in speech. In addition, non-vocal motor impairments are reported in some individuals who stutter. Although its precise cause remains unknown, mutations in lysosomal trafficking proteins (such as GNPTAB) have been identified in a subgroup of people who stutter. To understand the functional significance of these mutations, transgenic Gnptab mice have been developed, and as expected, these mice exhibit vocal deficits throughout developmental stages. However, whether these mice also display non-vocal motor impairments is unknown. Our data reveal deficits in the breathing, locomotion, and grooming behaviors of the Gnptab mouse model, outlining a broader phenotype linked to GNPTAB mutations in stuttering. These findings suggest that lysosomal dysfunction may disrupt astrocyte-regulated motor circuits, affecting both vocal and non-vocal rhythmic behaviors that are central to stuttering neurophysiological symptoms.","journal":"bioRxiv (Cold Spring Harbor Laboratory)","year":2025,"id":558754,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9476,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1459967,"name":"Maximillian Weinhold","orcid":null,"position":1,"is_corresponding":false},{"id":1327409,"name":"Camryn Bragg","orcid":null,"position":2,"is_corresponding":false},{"id":1459552,"name":"Harjot Kaur","orcid":"0000-0001-5657-9750","position":3,"is_corresponding":false},{"id":1327410,"name":"Ruli Zhang","orcid":null,"position":4,"is_corresponding":false},{"id":410017,"name":"Shahriar SheikhBahaei","orcid":"0000-0003-4119-9979","position":5,"is_corresponding":false},{"id":1072504,"name":"Marissa Millwater","orcid":null,"position":0,"is_corresponding":true}],"reference_count":56,"raw_metadata":null,"created_at":"2026-07-19T02:55:30.312295Z","pmid":"40832309","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}