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ProteomicsThe BPAN disease protein WDR45 forms condensates with Caprin-1 to regulate stress granule disassembly
Beta-propeller protein-associated neurodegeneration (BPAN) is a rare X-linked neurodegenerative disorder primarily caused by mutations in the WD repeat domain 45 (WDR45) gene. While WDR45 has traditionally been linked to autophagy, our study uncovers a previously unrecognized role for WDR45 as a cri...
ORGANISM(S): Homo Sapiens 
PXD062911 |
ProteomicsSecretome profiling of iPSC-derived microglia from β-propeller protein-associated neurodegeneration patients
Microglia are the brain’s resident immune cells, essential for homeostasis and implicated in common neurodegenerative diseases like Alzheimer’s and Parkinson’s disease (PD), where their early activation and sustained inflammatory mediator release precede neuronal loss. By contrast, their contributio...
ORGANISM(S): Homo sapiens (Human) 
2026-06-01 | PXD071930 | Pride
Bpan Microglia Hispecs Secretome 
UnknownPsychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).
Not available
S-EPMC9613602 | biostudies-literature
UnknownFerrous Iron Up-regulation in Fibroblasts of Patients with Beta Propeller Protein-Associated Neurodegeneration (BPAN).
Not available
S-EPMC5314138 | biostudies-literature
TranscriptomicsMutation 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...
ORGANISM(S): Mus musculus 
2025-02-05 | GSE288499 | GEO
GenomicsMutation 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
PRJNA1217880 | ENA
UnknownFunctional evidence for a de novo mutation in WDR45 leading to BPAN in a Chinese girl.
Not available
S-EPMC6732291 | biostudies-literature
UnknownMutation 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.
Not available
S-EPMC11907653 | biostudies-literature
UnknownMutation 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.
Not available
S-EPMC11702570 | biostudies-literature
UnknownAntioxidants Prevent Iron Accumulation and Lipid Peroxidation, but Do Not Correct Autophagy Dysfunction or Mitochondrial Bioenergetics in Cellular Models of BPAN.
Not available
S-EPMC11340724 | biostudies-literature
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