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

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

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 BP...

Full description

Bibliographic Details
Main Authors: Brandon L. Meyerink, Krishna S. Karia, Mitchell J. Rechtzigel, Prithvi R. Patthi, Ariana C. Edwards, Jessica M. Howard, Elizabeth R. Aaseng, Shamiq Aftab, Jill M. Weimer, Louis-Jan Pilaz
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-02-01
Series:Frontiers in Neuroscience
Subjects:
BPAN
WDR45
axon degeneration
neurodevelopment
autophagy
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2025.1545004/full

Internet

https://www.frontiersin.org/articles/10.3389/fnins.2025.1545004/full

Similar Items