Mutation in Wdr45 leads to early motor dysfunction and widespread aberrant axon terminals in a beta-propeller protein associated neurodegeneration (BPAN) patient-inspired mouse model.

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Title: Mutation in Wdr45 leads to early motor dysfunction and widespread aberrant axon terminals in a beta-propeller protein associated neurodegeneration (BPAN) patient-inspired mouse model.
Authors: Meyerink BL; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States.; Basic Biomedical Sciences, Sanford School of Medicine at the University of South Dakota, Vermillion, SD, United States., Karia KS; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States., Rechtzigel MJ; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States., Patthi PR; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States., Edwards AC; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States., Howard JM; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States., Aaseng ER; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States., Aftab S; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States., Weimer JM; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States.; Department of Pediatrics, Sanford School of Medicine at the University of South Dakota, Vermillion, SD, United States., Pilaz LJ; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States.; Department of Pediatrics, Sanford School of Medicine at the University of South Dakota, Vermillion, SD, United States.
Source: Frontiers in neuroscience [Front Neurosci] 2025 Feb 28; Vol. 19, pp. 1545004. Date of Electronic Publication: 2025 Feb 28 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101478481 Publication Model: eCollection Cited Medium: Print ISSN: 1662-4548 (Print) Linking ISSN: 1662453X NLM ISO Abbreviation: Front Neurosci Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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ISSN:1662-4548
DOI:10.3389/fnins.2025.1545004