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Mollereau, B.* ; Hayflick, S.J.* ; Escalante, R.* ; Mauthe, M.* ; Papandreou, A.* ; Iuso, A. ; Celle, M.* ; Aniorte, S.* ; Issa, A.R.* ; Lasserre, J.P.* ; Lesca, G.* ; Thobois, S.* ; Burger, P.* ; Walter, L.*

A burning question from the first international BPAN symposium: Is restoration of autophagy a promising therapeutic strategy for BPAN?

Autophagy 19, 3234-3239 (2023)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
Beta-propeller protein-associated neurodegeneration (BPAN) is a rare neurodegenerative disease associated with severe cognitive and motor deficits. BPAN pathophysiology and phenotypic spectrum are still emerging due to the fact that mutations in the WDR45 (WD repeat domain 45) gene, a regulator of macroautophagy/autophagy, were only identified a decade ago. In the first international symposium dedicated to BPAN, which was held in Lyon, France, a panel of international speakers, including several researchers from the autophagy community, presented their work on human patients, cellular and animal models, carrying WDR45 mutations and their homologs. Autophagy researchers found an opportunity to explore the defective function of autophagy mechanisms associated with WDR45 mutations, which underlie neuronal dysfunction and early death. Importantly, BPAN is one of the few human monogenic neurological diseases targeting a regulator of autophagy, which raises the possibility that it is a relevant model to directly assess the roles of autophagy in neurodegeneration and to develop autophagy restorative therapeutic strategies for more common disorders.Abbreviations: ATG: autophagy related; BPAN: beta-propeller protein-associated neurodegeneration; ER: endoplasmic reticulum; KO: knockout; NBIA: neurodegeneration with brain iron accumulation; PtdIns3P: phosphatidylinositol-3-phosphate; ULK1: unc-51 like autophagy activating kinase 1; WDR45: WD repeat domain 45; WIPI: WD repeat domain, phosphoinositide interacting.
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Publication type Article: Journal article
Document type Meeting abstract
Corresponding Author
Keywords Brain ; Ferritinophagy ; Iron ; Macroautophagy ; Neurological Disease ; Therapy; Optimizing Aav Delivery; Neurodegeneration; Childhood; Mutations; Ataxia; Family
ISSN (print) / ISBN 1554-8627
e-ISSN 1554-8635
Journal Autophagy
Quellenangaben Volume: 19, Issue: 12, Pages: 3234-3239 Article Number: , Supplement: ,
Publisher Landes Bioscience
Publishing Place 530 Walnut Street, Ste 850, Philadelphia, Pa 19106 Usa
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
Grants We would like to thank the French family associations "Autour du BPAN" and "BPAN France" for their permanent support to BM, MC, SA and LW.