A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

(2018) Hussein Sheikh Mohamoud et al.   Scientific Reports

Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells

(2018) Philip Seibler et al.   BRAIN

Autophagy and Neurodegeneration: Pathogenic Mechanisms and Therapeutic Opportunities

(2017) Fiona M. Menzies et al.   NEURON

WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy

(2017) Daniela Bakula et al.   Nature Communications

The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family

(2016) Nuha Alrayes et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

(2015) Darius Ebrahimi-Fakhari et al.   BRAIN

Function of human WIPI proteins in autophagosomal rejuvenation of endomembranes?

(2015) Amelie Johanna Müller et al.   FEBS LETTERS

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

(2015) Saleem Ahmed et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

PI(5)P Regulates Autophagosome Biogenesis

(2015) Mariella Vicinanza et al.   MOLECULAR CELL

Unique role for ATG5 in neutrophil-mediated immunopathology during M. tuberculosis infection

(2015) Jacqueline M. Kimmey et al.   NATURE

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

(2015) Naiara Akizu et al.   NATURE GENETICS

WIPI2b and Atg16L1: setting the stage for autophagosome formation

(2014) Michael I. Wilson et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

The c10orf10 gene product is a new link between oxidative stress and autophagy

(2014) Marcus W. Stepp et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Atomistic Autophagy: The Structures of Cellular Self-Digestion

(2014) James H. Hurley et al.   CELL

To Be or Not to Be? How Selective Autophagy and Cell Death Govern Cell Fate

(2014) Douglas R. Green et al.   CELL

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

(2014) Hannah C. Dooley et al.   MOLECULAR CELL

A Crohn’s disease variant in Atg16l1 enhances its degradation by caspase 3

(2014) Aditya Murthy et al.   NATURE

Stressful genetics in Crohn's disease

(2014) Arthur Kaser et al.   NATURE

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

(2013) Susan J. Hayflick et al.   BRAIN

FIP200 regulates targeting of Atg16L1 to the isolation membrane

(2013) Taki Nishimura et al.   EMBO REPORTS

A table for two

(2013) Marcel A. Behr et al.   NATURE

The ubiquitin ligase parkin mediates resistance to intracellular pathogens

(2013) Paolo S. Manzanillo et al.   NATURE

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

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

The role of autophagy in neurodegenerative disease

(2013) Ralph A Nixon   NATURE MEDICINE

Autophagy in Human Health and Disease

(2013) Augustine M.K. Choi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Autophagy as an essential cellular antioxidant pathway in neurodegenerative disease

(2013) Samantha Giordano et al.   Redox Biology

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

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

Two-Site Recognition of Phosphatidylinositol 3-Phosphate by PROPPINs in Autophagy

(2012) Sulochanadevi Baskaran et al.   MOLECULAR CELL

Interaction between FIP200 and ATG16L1 distinguishes ULK1 complex–dependent and –independent autophagy

(2012) Noor Gammoh et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

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

Autophagy protects against active tuberculosis by suppressing bacterial burden and inflammation

(2012) E. F. Castillo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Resveratrol-mediated autophagy requires WIPI-1-regulated LC3 lipidation in the absence of induced phagophore formation

(2011) Mario Mauthe et al.   Autophagy

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Mammalian Atg18 (WIPI2) localizes to omegasome-anchored phagophores and positively regulates LC3 lipidation

(2010) Hannah E.J. Polson et al.   Autophagy

Autophagosome formation from membrane compartments enriched in phosphatidylinositol 3-phosphate and dynamically connected to the endoplasmic reticulum

(2008) Elizabeth L. Axe et al.   JOURNAL OF CELL BIOLOGY