Article

AAV-mediated gene transfer of WDR45 corrects neurologic deficits in the mouse model of beta-propeller protein-associated neurodegeneration

2024-06-22

Abstract excerpt

Beta-propeller protein-associated neurodegeneration (BPAN) is an ultra-rare, X-linked dominant, neurodegenerative disease caused by loss-of-function mutations in the WDR45 gene. It manifests in neurodevelopmental delay and seizures followed by secondary neurologic decline with dystonia/parkinsonism and dementia in adolescence and early adulthood and is characterized by progressive accumulation of iron in the basa...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: cd515199-eac2-5014-ab38-2dc9c0c981f6
DOI: 10.1101/2024.06.18.599588

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

AAV-mediated gene transfer of WDR45 corrects neurologic deficits in the mouse model of beta-propeller protein-associated neurodegenerationDOI 10.1101/2024.06.18.599588Read

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

A dwdr45 knock-out Drosophila model to decipher the role of autophagy in BPANSemantic proximity Read

Physiological Significance of WDR45, A Responsible Gene for β-propeller Protein Associated Neurodegeneration (BPAN), in Brain DevelopmentSemantic proximity Read

A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.Semantic proximity Read

A dwdr45 knock-out drosophila model to decipher the role of autophagy in BPAN.Semantic proximity Read

Pathological characteristics of axons and proteome patterns in midbrain dopaminergic neurodegeneration induced by WDR45-deficiencySemantic proximity Read

The autophagy gene Wdr45/Wipi4 regulates learning and memory function and axonal homeostasis.Semantic proximity Read

A neurodegeneration gene, WDR45, links impaired ferritinophagy to iron accumulationSemantic proximity Read

Role of Wdr45b in maintaining neural autophagy and cognitive functionSemantic proximity Read

Loss of WIPI4 in neurodegeneration causes autophagy-independent ferroptosis.Semantic proximity Read

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.Semantic proximity Read

WWOX P47T loss-of-function mutation induces epilepsy, progressive neuroinflammation, and cerebellar degeneration in mice phenocopying human SCAR12Semantic proximity Read