A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?-Reference-Cited by-同舟云学术

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

Published:2023-08-31 Issue:12 Volume:19 Page:3234-3239
ISSN:1554-8627
Container-title:Autophagy
language:en
Short-container-title:Autophagy

Author:

Mollereau Bertrand¹^ORCID,Hayflick Susan J²,Escalante Ricardo³,Mauthe Mario⁴,Papandreou Apostolos⁵⁶,Iuso Arcangela⁷⁸,Celle Marion¹,Aniorte Sahra¹,Issa Abdul Raouf¹,Lasserre Jean Paul⁹,Lesca Gaetan¹⁰¹¹,Thobois Stéphane¹²¹³¹⁴,Burger Pauline¹⁵^ORCID,Walter Ludivine¹

Affiliation:

1. Laboratory of Biology and Modelling of the Cell, ENS of Lyon, University of Lyon, University of Claude Bernard Lyon 1, CNRS UMR 5239, INSERM U1210, UMS 3444 Biosciences Lyon Gerland, Lyon, France

2. Departments of Molecular and Medical Genetics, Pediatrics, and Neurology, Oregon Health & Science University, Portland, OR, USA

3. Instituto de Investigaciones Biomédicas Alberto Sols. CSIC-UAM, Madrid, Spain

4. Department of Biomedical Sciences of Cells & Systems, Molecular Cell Biology Section, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands

5. Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, University College London Great Ormond Street Institute of Child Health, London, UK

6. Medical Research Council Laboratory for Molecular Cell Biology, University College London, London, UK

7. Institute of Human Genetics, Technische Universität München, Munich, Germany

8. Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany

9. Laboratory of NRGEN, Univ. Bordeaux, CNRS, INCIA, UMR 5287, Bordeaux, France

10. Service de Génétique, Hospices Civils de Lyon, Lyon, France

11. Institut Neuromyogene, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261-INSERM U1315, Université de Lyon - Université Claude Bernard Lyon 1, Lyon, France

12. Service de Neurologie C, Movement disorders unit, Hopital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France

13. Institut des Sciences Cognitives Marc Jeannerod, UMR 5229, CNRS, Bron, France

14. Faculté de Médecine et de Maieutique Charles Mérieux, Université de Lyon, Université Claude Bernard Lyon 1, Lyon, France

15. Institut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France

Funder

Autour du BPAN

BPAN France” JORISS

Million Dollar Bike Ride program

Marie Skłodowska-Curie Actions

NBIA Disorders Association

Hoffungsbaum e.V., AISNAF, and Isabel's Chance

Publisher

Informa UK Limited

Subject

Cell Biology,Molecular Biology

Link

https://www.tandfonline.com/doi/pdf/10.1080/15548627.2023.2247314

Reference60 articles.

1. Consensus clinical management guideline for beta‐propeller protein‐associated neurodegeneration

2. Gregory A, Kurian MA, Haack T, et al. Beta-Propeller Protein-Associated Neurodegeneration. In: Margaret PA, Ghayda MM, Roberta AP, et al., editors. GeneReviews((R)). Seattle (WA): University of Washington, Seattle; 1993.

3. Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

4. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

5. Phenotypic and Imaging Spectrum Associated With WDR45