De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
Published 2013 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
Authors
Keywords
-
Journal
NATURE GENETICS
Volume 45, Issue 4, Pages 445-449
Publisher
Springer Nature
Online
2013-02-25
DOI
10.1038/ng.2562
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA
- (2012) Tobias B. Haack et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Structure-based Analyses Reveal Distinct Binding Sites for Atg2 and Phosphoinositides in Atg18
- (2012) Yasunori Watanabe et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Structures containing Atg9A and the ULK1 complex independently target depolarized mitochondria at initial stages of Parkin-mediated mitophagy
- (2012) E. Itakura et al. JOURNAL OF CELL SCIENCE
- A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS
- (2012) Yukiko Kondo et al. JOURNAL OF HUMAN GENETICS
- Mammalian Atg2 proteins are essential for autophagosome formation and important for regulation of size and distribution of lipid droplets
- (2012) Anoop Kumar G. Velikkakath et al. MOLECULAR BIOLOGY OF THE CELL
- Dynamic and transient interactions of Atg9 with autophagosomes, but not membrane integration, are required for autophagy
- (2012) A. Orsi et al. MOLECULAR BIOLOGY OF THE CELL
- Two-Site Recognition of Phosphatidylinositol 3-Phosphate by PROPPINs in Autophagy
- (2012) Sulochanadevi Baskaran et al. MOLECULAR CELL
- Structural and functional characterization of the two phosphoinositide binding sites of PROPPINs, a β-propeller protein family
- (2012) Roswitha Krick et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Mitochondrial Fission, Fusion, and Stress
- (2012) R. J. Youle et al. SCIENCE
- Syndromes of Neurodegeneration With Brain Iron Accumulation
- (2012) Susanne A. Schneider et al. Seminars in Pediatric Neurology
- Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation
- (2011) M.C. Kruer et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- The Role of Atg Proteins in Autophagosome Formation
- (2011) Noboru Mizushima et al. Annual Review of Cell and Developmental Biology
- Autophagy: Renovation of Cells and Tissues
- (2011) Noboru Mizushima et al. CELL
- Genetics of Neurodegeneration with Brain Iron Accumulation
- (2011) Allison Gregory et al. Current Neurology and Neuroscience Reports
- The WD40 Repeat PtdIns(3)P-Binding Protein EPG-6 Regulates Progression of Omegasomes to Autophagosomes
- (2011) Qun Lu et al. DEVELOPMENTAL CELL
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Mammalian Atg18 (WIPI2) localizes to omegasome-anchored phagophores and positively regulates LC3 lipidation
- (2010) Hannah E.J. Polson et al. Autophagy
- Methods in Mammalian Autophagy Research
- (2010) Noboru Mizushima et al. CELL
- Protein misfolding disorders and macroautophagy
- (2010) Fiona M Menzies et al. CURRENT OPINION IN CELL BIOLOGY
- STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern
- (2010) Hirotomo Saitsu et al. EPILEPSIA
- Mechanisms of mitophagy
- (2010) Richard J. Youle et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Dynamics and diversity in autophagy mechanisms: lessons from yeast
- (2009) Hitoshi Nakatogawa et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Atg9a controls dsDNA-driven dynamic translocation of STING and the innate immune response
- (2009) T. Saitoh et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The Atg8 Conjugation System Is Indispensable for Proper Development of Autophagic Isolation Membranes in Mice
- (2008) Yu-shin Sou et al. MOLECULAR BIOLOGY OF THE CELL
- Loss of the autophagy protein Atg16L1 enhances endotoxin-induced IL-1β production
- (2008) Tatsuya Saitoh et al. NATURE
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search