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

2024-12-17

Abstract excerpt

Beta-propeller Protein Associated Neurodegeneration (BPAN) is a devastating neurodevelopmental and neurodegenerative disease linked to variants in WDR45 . Currently, there is no cure or disease altering treatment for this disease. This is, in part, due to a lack of insight into early phenotypes of BPAN progression and WDR45 ’s role in establishing and maintaining neurological function. Here we generated and char...

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Literature Corpus work
61b71d0e-688d-5513-98da-99e5052e2cdc
DOI
10.1101/2024.12.13.628412
Open publication

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Mutation in <i>Wdr45</i> leads to early motor dysfunction and widespread aberrant axon terminals in a beta-propeller protein associated neurodegeneration (BPAN) patient-inspired mouse modelDOI 10.1101/2024.12.13.628412
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