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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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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Meyerink+BL%22">Meyerink BL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Karia+KS%22">Karia KS</searchLink>; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States.<br /><searchLink fieldCode="AU" term="%22Rechtzigel+MJ%22">Rechtzigel MJ</searchLink>; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States.<br /><searchLink fieldCode="AU" term="%22Patthi+PR%22">Patthi PR</searchLink>; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States.<br /><searchLink fieldCode="AU" term="%22Edwards+AC%22">Edwards AC</searchLink>; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States.<br /><searchLink fieldCode="AU" term="%22Howard+JM%22">Howard JM</searchLink>; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States.<br /><searchLink fieldCode="AU" term="%22Aaseng+ER%22">Aaseng ER</searchLink>; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States.<br /><searchLink fieldCode="AU" term="%22Aftab+S%22">Aftab S</searchLink>; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States.<br /><searchLink fieldCode="AU" term="%22Weimer+JM%22">Weimer JM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Pilaz+LJ%22">Pilaz LJ</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101478481%22">Frontiers in neuroscience</searchLink> [Front Neurosci] 2025 Feb 28; Vol. 19, pp. 1545004. <i>Date of Electronic Publication: </i>2025 Feb 28 (<i>Print Publication: </i>2025).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101478481 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1662-4548 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%221662453X%22">1662453X </searchLink><i>NLM ISO Abbreviation: </i>Front Neurosci <i>Subsets: </i>PubMed not MEDLINE
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              Text: 2025 Feb 28
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