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

doi:10.1038/NG.2562

Journal ArticleDOI

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

Hirotomo Saitsu, +22 more

- 01 Apr 2013 -

Nature Genetics

- Vol. 45, Iss: 4, pp 445-449

TLDR

Findings provide direct evidence that an autophagy defect is indeed associated with a neurodegenerative disorder in humans.

Abstract:

Hirotomo Saitsu, Noboru Mizushima, Naomichi Matsumoto and colleagues report the identification of de novo mutations in WDR45 that cause static encephalopathy of childhood with neurodegeneration in adulthood. WDR45 encodes a homolog of the yeast autophagy protein Atg18.

Citations

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Open Access

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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Daniel J. Klionsky, +2522 more

- 21 Jan 2016 -

Autophagy

TL;DR: In this paper, the authors present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macro-autophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes.

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Journal ArticleDOI

Mechanism and medical implications of mammalian autophagy

Ivan Dikic, +1 more

- 01 Jun 2018 -

Nature Reviews Molecular Cell Biology

TL;DR: It is now apparent that autophagy is deregulated in the context of various human pathologies, including cancer and neurodegeneration, and its modulation has considerable potential as a therapeutic approach.

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Journal ArticleDOI

Biological Functions of Autophagy Genes: A Disease Perspective

Beth Levine, +1 more

- 10 Jan 2019 -

Cell

TL;DR: The biological functions of autophagy genes are discussed from the perspective of understanding-and potentially reversing-the pathophysiology of human disease and aging.

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Signals from the lysosome: a control centre for cellular clearance and energy metabolism.

Carmine Settembre, +3 more

- 01 May 2013 -

Nature Reviews Molecular Cell Biology

TL;DR: The identification of a master regulator, transcription factor EB (TFEB), that regulates lysosomal biogenesis and autophagy has revealed how the lyssome adapts to environmental cues, such as starvation, and targeting TFEB may provide a novel therapeutic strategy for modulating lysOSomal function in human disease.

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Journal ArticleDOI

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

Daniel J. Klionsky, +2983 more

- 08 Feb 2021 -

Autophagy

TL;DR: In this article, the authors present a set of guidelines for investigators to select and interpret methods to examine autophagy and related processes, and for reviewers to provide realistic and reasonable critiques of reports that are focused on these processes.

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References

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Open Access

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Journal ArticleDOI

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, +2 more

- 01 Sep 2010 -

Nucleic Acids Research

TL;DR: The ANNOVAR tool to annotate single nucleotide variants and insertions/deletions, such as examining their functional consequence on genes, inferring cytogenetic bands, reporting functional importance scores, finding variants in conserved regions, or identifying variants reported in the 1000 Genomes Project and dbSNP is developed.

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Journal ArticleDOI

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, +22 more

- 01 May 2011 -

Nature Genetics

TL;DR: A unified analytic framework to discover and genotype variation among multiple samples simultaneously that achieves sensitive and specific results across five sequencing technologies and three distinct, canonical experimental designs is presented.

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Journal ArticleDOI

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

Tohru Kitada, +8 more

- 09 Apr 1998 -

Nature

TL;DR: Mutations in the newly identified gene appear to be responsible for the pathogenesis of Autosomal recessive juvenile parkinsonism, and the protein product is named ‘Parkin’.

...read moreread less

Journal ArticleDOI

Autophagy: Renovation of Cells and Tissues

Noboru Mizushima, +1 more

- 11 Nov 2011 -

Cell

TL;DR: It is explored how recent mouse models in combination with advances in human genetics are providing key insights into how the impairment or activation of autophagy contributes to pathogenesis of diverse diseases, from neurodegenerative diseases such as Parkinson disease to inflammatory disorders such as Crohn disease.

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Journal ArticleDOI

Methods in Mammalian Autophagy Research

Noboru Mizushima, +2 more

- 05 Feb 2010 -

Cell

TL;DR: Methods to monitor autophagy and to modulate autophagic activity are discussed, with a primary focus on mammalian macroautophagy.

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

Tobias B. Haack, +34 more

- 07 Dec 2012 -

American Journal of Human Genetics

WIPI2 Links LC3 Conjugation with PI3P, Autophagosome Formation, and Pathogen Clearance by Recruiting Atg12–5-16L1

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

Citations

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Mechanism and medical implications of mammalian autophagy

Biological Functions of Autophagy Genes: A Disease Perspective

Signals from the lysosome: a control centre for cellular clearance and energy metabolism.

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

References

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

Autophagy: Renovation of Cells and Tissues

Methods in Mammalian Autophagy Research

Related Papers (5)

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

Loss of autophagy in the central nervous system causes neurodegeneration in mice

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WIPI2 Links LC3 Conjugation with PI3P, Autophagosome Formation, and Pathogen Clearance by Recruiting Atg12–5-16L1

Network organization of the human autophagy system