Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay

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

(2016) Daniel J Klionsky et al.   Autophagy

DrosophilaGyf/GRB10 interacting GYF protein is an autophagy regulator that controls neuron and muscle homeostasis

(2015) Myungjin Kim et al.   Autophagy

Identification of an AMPK Phosphorylation Site in Drosophila TSC2 (gigas) that Regulate Cell Growth

(2015) Myungjin Kim et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Autophagy and neurodegeneration

(2015) Rebecca A. Frake et al.   JOURNAL OF CLINICAL INVESTIGATION

Trehalose Attenuates the Gait Ataxia and Gliosis of Spinocerebellar Ataxia Type 17 Mice

(2015) Zhi-Zhong Chen et al.   NEUROCHEMICAL RESEARCH

Autophagic activity in neuronal cell death

(2015) Robert W. Button et al.   Neuroscience Bulletin

The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice

(2014) Sandro Alves et al.   ACTA NEUROPATHOLOGICA

Insights into autophagosome maturation revealed by the structures of ATG5 with its interacting partners

(2014) Jun Hoe Kim et al.   Autophagy

A randomized controlled pilot trial of lithium in spinocerebellar ataxia type 2

(2014) Francesco Saccà et al.   JOURNAL OF NEUROLOGY

Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome

(2014) R. Burns et al.   NEUROLOGY

Trehalose Improves Human Fibroblast Deficits in a New CHIP-Mutation Related Ataxia

(2014) Maria Jose Casarejos et al.   PLoS One

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

(2014) Brent L. Fogel et al.   JAMA Neurology

Genes and Genetic Testing in Hereditary Ataxias

(2014) Erin Sandford et al.   Genes

Beclin 1 mitigates motor and neuropathological deficits in genetic mouse models of Machado–Joseph disease

(2013) Isabel Nascimento-Ferreira et al.   BRAIN

Chaperone-mediated autophagy: roles in disease and aging

(2013) Ana Maria Cuervo et al.   CELL RESEARCH

Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias

(2013) A. Matilla-Dueñas et al.   CEREBELLUM

Highly Improved Gene Targeting by Germline-Specific Cas9 Expression in Drosophila

(2013) Shu Kondo et al.   GENETICS

Hereditary ataxias: overview

(2013) Suman Jayadev et al.   GENETICS IN MEDICINE

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

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

Autophagy in Human Health and Disease

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

Binding to E1 and E3 is mutually exclusive for the human autophagy E2 Atg3

(2013) Yu Qiu et al.   PROTEIN SCIENCE

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 of the Atg12–Atg5 conjugate reveals a platform for stimulating Atg8–PE conjugation

(2012) Nobuo N Noda et al.   EMBO REPORTS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Structure of the human ATG12~ATG5 conjugate required for LC3 lipidation in autophagy

(2012) Chinatsu Otomo et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Advantages and Limitations of Different p62-Based Assays for Estimating Autophagic Activity in Drosophila

(2012) Karolina Pircs et al.   PLoS One

Features and development ofCoot

(2010) P. Emsley et al.   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

PHENIX: a comprehensive Python-based system for macromolecular structure solution

(2010) Paul D. Adams et al.   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

An efficient one-step site-directed deletion, insertion, single and multiple-site plasmid mutagenesis protocol

(2009) Huanting Liu et al.   BMC BIOTECHNOLOGY

Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3

(2009) Fiona M. Menzies et al.   BRAIN

An ATP-competitive Mammalian Target of Rapamycin Inhibitor Reveals Rapamycin-resistant Functions of mTORC1

(2009) Carson C. Thoreen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rapamycin and mTOR-independent autophagy inducers ameliorate toxicity of polyglutamine-expanded huntingtin and related proteinopathies

(2008) S Sarkar et al.   CELL DEATH AND DIFFERENTIATION

In vivo reconstitution of autophagy inSaccharomyces cerevisiae

(2008) Yang Cao et al.   JOURNAL OF CELL BIOLOGY

The Atg16L Complex Specifies the Site of LC3 Lipidation for Membrane Biogenesis in Autophagy

(2008) Naonobu Fujita et al.   MOLECULAR BIOLOGY OF THE CELL

A role for the NAD-dependent deacetylase Sirt1 in the regulation of autophagy

(2008) I. H. Lee et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA