Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases-Reference-Cited by-同舟云学术

Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases

Published:2021-11-24 Issue: Volume: Page:1-13
ISSN:1554-8627
Container-title:Autophagy
language:en
Short-container-title:Autophagy

Author:

Saffari Afshin¹²^ORCID,Schröter Julian¹²,Garbade Sven F.²,Alecu Julian E.³^ORCID,Ebrahimi-Fakhari Darius³^ORCID,Hoffmann Georg F.²,Kölker Stefan²,Ries Markus²^ORCID,Syrbe Steffen¹^ORCID

Affiliation:

1. Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany

2. Division of Neuropediatrics and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany

3. Department of Neurology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

Funder

Deutsche Forschungsgemeinschaft

Dietmar Hopp Stiftung

Publisher

Informa UK Limited

Subject

Cell Biology,Molecular Biology

Link

https://www.tandfonline.com/doi/pdf/10.1080/15548627.2021.1990671

Reference36 articles.

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

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

4. WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death

5. β-propeller proteins WDR45 and WDR45B regulate autophagosome maturation into autolysosomes in neural cells

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