Autophagy and disease: unanswered questions

Biological Functions of Autophagy Genes: A Disease Perspective

(2019) Beth Levine et al.   CELL

Mitophagy inhibits amyloid-β and tau pathology and reverses cognitive deficits in models of Alzheimer’s disease

(2019) Evandro F. Fang et al.   NATURE NEUROSCIENCE

Prognostic and Predictive Value of an Autophagy-related Signature for Early Relapse in Stage I-III Colon Cancer

(2019) Shaobo Mo et al.   CARCINOGENESIS

Mitochondrial transport proteins RHOT1 and RHOT2 serve as docking sites for PRKN-mediated mitophagy

(2019) Dzhamilja Safiulina et al.   Autophagy

The Autophagy Lysosomal Pathway and Neurodegeneration

(2019) Steven Finkbeiner   Cold Spring Harbor Perspectives in Biology

Autophagy as a molecular target for cancer treatment

(2019) Nur Mehpare Kocaturk et al.   EUROPEAN JOURNAL OF PHARMACEUTICAL SCIENCES

Mitophagy in Parkinson’s Disease: From Pathogenesis to Treatment

(2019) Jia Liu et al.   Cells

Cancer Cells Upregulate NRF2 Signaling to Adapt to Autophagy Inhibition

(2019) Christina G. Towers et al.   DEVELOPMENTAL CELL

ATG5 cancer mutations and alternative mRNA splicing reveal a conjugation switch that regulates ATG12–ATG5-ATG16L1 complex assembly and autophagy

(2019) Daric J. Wible et al.   Cell Discovery

Allele-selective lowering of mutant HTT protein by HTT–LC3 linker compounds

(2019) Zhaoyang Li et al.   NATURE

Alpha-synuclein delays mitophagy and targeting Miro rescues neuron loss in Parkinson’s models

(2018) Atossa Shaltouki et al.   ACTA NEUROPATHOLOGICA

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects

(2018) Eunju Seong et al.   ANNALS OF NEUROLOGY

Genetic aberrations in macroautophagy genes leading to diseases

(2018) Nienke van Beek et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Basal Mitophagy Occurs Independently of PINK1 in Mouse Tissues of High Metabolic Demand

(2018) Thomas G. McWilliams et al.   Cell Metabolism

Coordination of Autophagosome–Lysosome Fusion by Atg8 Family Members

(2018) Franziska Kriegenburg et al.   CURRENT BIOLOGY

Autophagy in stem cells: repair, remodelling and metabolic reprogramming

(2018) Patricia Boya et al.   DEVELOPMENT

Mechanism of parkin activation by PINK1

(2018) Christina Gladkova et al.   NATURE

Cargo recognition and degradation by selective autophagy

(2018) Damián Gatica et al.   NATURE CELL BIOLOGY

Increased autophagy blocks HER2-mediated breast tumorigenesis

(2018) Silvia Vega-Rubín-de-Celis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autophagy Sustains Pancreatic Cancer Growth through Both Cell-Autonomous and Nonautonomous Mechanisms

(2018) Annan Yang et al.   Cancer Discovery

A Rare Variant (rs933717) at FBXO31-MAP1LC3B in Chinese Is Associated With Systemic Lupus Erythematosus

(2018) Yuan-yuan Qi et al.   Arthritis & Rheumatology

A Phenotype of Atypical Apraxia of Speech in a Family Carrying SQSTM1 Mutation

(2018) Claire Boutoleau-Bretonnière et al.   JOURNAL OF ALZHEIMERS DISEASE

Disruption of the beclin 1–BCL2 autophagy regulatory complex promotes longevity in mice

(2018) Álvaro F. Fernández et al.   NATURE

Parkin and PINK1 mitigate STING-induced inflammation

(2018) Danielle A. Sliter et al.   NATURE

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45

(2017) Gemma L. Carvill et al.   EPILEPSIA

Clinical Applications of Autophagy Proteins in Cancer: From Potential Targets to Biomarkers

(2017) Svetlana Bortnik et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Identification of Autophagy-Related Genes and Their Regulatory miRNAs Associated with Celiac Disease in Children

(2017) Sergio Comincini et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Co-delivery of autophagy inhibitor ATG7 siRNA and docetaxel for breast cancer treatment

(2017) Chunai Gong et al.   JOURNAL OF CONTROLLED RELEASE

Enhancing mitochondrial proteostasis reduces amyloid-β proteotoxicity

(2017) Vincenzo Sorrentino et al.   NATURE

Polyglutamine tracts regulate beclin 1-dependent autophagy

(2017) Avraham Ashkenazi et al.   NATURE

Novel and functional ATG12 gene variants in sporadic Parkinson's disease

(2017) Yuequn Li et al.   NEUROSCIENCE LETTERS

Genetic association, mRNA and protein expression analysis identify ATG4C as a susceptibility gene for Kashin–Beck disease

(2017) C. Wu et al.   OSTEOARTHRITIS AND CARTILAGE

Distinct roles for motor neuron autophagy early and late in the SOD1G93Amouse model of ALS

(2017) Noam D. Rudnick et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitophagy and Alzheimer’s Disease: Cellular and Molecular Mechanisms

(2017) Jesse S. Kerr et al.   TRENDS IN NEUROSCIENCES

TBK1: a new player in ALS linking autophagy and neuroinflammation

(2017) James A. Oakes et al.   Molecular Brain

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

(2016) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The BECN1-USP19 axis plays a role in the crosstalk between autophagy and antiviral immune responses

(2016) Jun Cui et al.   Autophagy

Impairment of chaperone-mediated autophagy induces dopaminergic neurodegeneration in rats

(2016) Maria Xilouri et al.   Autophagy

Autophagy flux in CA1 neurons of Alzheimer hippocampus: Increased induction overburdens failing lysosomes to propel neuritic dystrophy

(2016) Matteo Bordi et al.   Autophagy

Autophagy, a key mechanism of oncogenesis and resistance in leukemia

(2016) Patrick Auberger et al.   BLOOD

Regulation of amyloid precursor protein processing by its KFERQ motif

(2016) Ji-Seon Park et al.   BMB Reports

Parkinson’s Disease-Related Proteins PINK1 and Parkin Repress Mitochondrial Antigen Presentation

(2016) Diana Matheoud et al.   CELL

The Autophagy Machinery Controls Cell Death Switching between Apoptosis and Necroptosis

(2016) Megan L. Goodall et al.   DEVELOPMENTAL CELL

Autophagy core machinery: overcoming spatial barriers in neurons

(2016) Aileen R. Ariosa et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Compartment-Specific Regulation of Autophagy in Primary Neurons

(2016) Sandra Maday et al.   JOURNAL OF NEUROSCIENCE

LRRK2 interferes with aggresome formation for autophagic clearance

(2016) Yeojin Bang et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature

(2016) Sabine Hoffjan et al.   MOLECULAR AND CELLULAR PROBES

ULK1-mediated phosphorylation of ATG14 promotes autophagy and is impaired in Huntington’s disease models

(2016) Mitchell S. Wold et al.   Molecular Neurodegeneration

Evolving basic, pathological and clinical concepts in PD

(2016) Lorraine V. Kalia et al.   Nature Reviews Neurology

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

(2016) Qiang Gang et al.   NEUROBIOLOGY OF AGING

Significance of optineurin mutations in glaucoma and other diseases

(2016) Yuriko Minegishi et al.   PROGRESS IN RETINAL AND EYE RESEARCH

The ATG conjugation systems are important for degradation of the inner autophagosomal membrane

(2016) Kotaro Tsuboyama et al.   SCIENCE

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

(2016) Myungjin Kim et al.   eLife

Association of autophagy related gene polymorphisms with neutrophilic airway inflammation in adult asthma

(2016) Duy Le Pham et al.   KOREAN JOURNAL OF INTERNAL MEDICINE

Cross-cancer profiling of molecular alterations within the human autophagy interaction network

(2015) Chandra B Lebovitz et al.   Autophagy

Selective removal of mitochondria via mitophagy: distinct pathways for different mitochondrial stresses

(2015) Huifang Wei et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Autophagy in malignant transformation and cancer progression

(2015) L. Galluzzi et al.   EMBO JOURNAL

Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

(2015) Affef Abidi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

PARK2 enhancement is able to compensate mitophagy alterations found in sporadic Alzheimer's disease

(2015) Patricia Martín-Maestro et al.   HUMAN MOLECULAR GENETICS

Parkin-mediated mitophagy in mutant hAPP neurons and Alzheimer's disease patient brains

(2015) Xuan Ye et al.   HUMAN MOLECULAR GENETICS

Association of Egr-1 and autophagy-related gene polymorphism in men with chronic obstructive pulmonary disease

(2015) Chiung-Zuei Chen et al.   JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION

Ursolic acid and resveratrol synergize with chloroquine to reduce melanoma cell viability

(2015) Jacob J. Junco et al.   MELANOMA RESEARCH

Autophagy Supports Breast Cancer Stem Cell Maintenance by Regulating IL6 Secretion

(2015) Paola Maycotte et al.   MOLECULAR CANCER RESEARCH

Lysosomal-associated membrane protein 2 isoforms are differentially affected in early Parkinson's disease

(2015) Karen E. Murphy et al.   MOVEMENT DISORDERS

The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy

(2015) Michael Lazarou et al.   NATURE

SQSTM1splice site mutation in distal myopathy with rimmed vacuoles

(2015) Robert C. Bucelli et al.   NEUROLOGY

Polymorphisms in Autophagy Genes Are Associated with Paget Disease of Bone

(2015) Ricardo Usategui-Martín et al.   PLoS One

Macroautophagy is dispensable for growth of KRAS mutant tumors and chloroquine efficacy

(2015) Christina H. Eng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease

(2015) Kaisa Kyöstilä et al.   PLoS Genetics

Decreased BECN1 mRNA Expression in Human Breast Cancer is Associated With Estrogen Receptor-Negative Subtypes and Poor Prognosis

(2015) Hao Tang et al.   EBioMedicine

Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis

(2014) Maureen D. Mayes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variants of autophagy-related gene 5 are associated with neuromyelitis optica in the Southern Han Chinese population

(2014) Ping-Ping Cai et al.   AUTOIMMUNITY

Autophagosome Biogenesis in Primary Neurons Follows an Ordered and Spatially Regulated Pathway

(2014) Sandra Maday et al.   DEVELOPMENTAL CELL

Depletion of p62 reduces nuclear inclusions and paradoxically ameliorates disease phenotypes in Huntington's model mice

(2014) Masaru Kurosawa et al.   HUMAN MOLECULAR GENETICS

Membrane recruitment of endogenous LRRK2 precedes its potent regulation of autophagy

(2014) J. Schapansky et al.   HUMAN MOLECULAR GENETICS

Tumor heterogeneity and cancer stem cell paradigm: Updates in concept, controversies and clinical relevance

(2014) Anup Kumar Singh et al.   INTERNATIONAL JOURNAL OF CANCER

Crosstalk Between Macroautophagy and Chaperone-Mediated Autophagy: Implications for the Treatment of Neurological Diseases

(2014) Haijian Wu et al.   MOLECULAR NEUROBIOLOGY

Targets for future clinical trials in Huntington's disease: What's in the pipeline?

(2014) Edward J. Wild et al.   MOVEMENT DISORDERS

Autophagy Is Required for Glucose Homeostasis and Lung Tumor Maintenance

(2014) G. Karsli-Uzunbas et al.   Cancer Discovery

An Overview of Autophagy: Morphology, Mechanism, and Regulation

(2013) Katherine R. Parzych et al.   ANTIOXIDANTS & REDOX SIGNALING

Inhibition of the autophagic flux by salinomycin in breast cancer stem-like/progenitor cells interferes with their maintenance

(2013) Wen Yue et al.   Autophagy

Reduced expression of the chaperone-mediated autophagy carrier hsc70 protein in lymphomonocytes of patients with Parkinson's disease

(2013) Gessica Sala et al.   BRAIN RESEARCH

Autophagy and genomic integrity

(2013) A T Vessoni et al.   CELL DEATH AND DIFFERENTIATION

The machinery of macroautophagy

(2013) Yuchen Feng et al.   CELL RESEARCH

Non-autophagic roles of autophagy-related proteins

(2013) Suresh Subramani et al.   EMBO REPORTS

ULK1 induces autophagy by phosphorylating Beclin-1 and activating VPS34 lipid kinase

(2013) Ryan C. Russell et al.   NATURE CELL BIOLOGY

A novel and functional variant within the ATG5 gene promoter in sporadic Parkinson's disease

(2013) Dongfeng Chen et al.   NEUROSCIENCE LETTERS

Genetic analysis of the ATG7 gene promoter in sporadic Parkinson's disease

(2013) Dongfeng Chen et al.   NEUROSCIENCE LETTERS

Prognostic Significance of Autophagy-Related Protein Expression in Resected Pancreatic Ductal Adenocarcinoma

(2013) Yoon Ho Ko et al.   PANCREAS

Autophagy regulation and its role in cancer

(2013) Séverine Lorin et al.   SEMINARS IN CANCER BIOLOGY

Identification of a novel 21bp-insertion variant within the LC3B gene promoter in sporadic Parkinson’s disease

(2013) Jing Xu et al.   Translational Research

Influence of microRNA deregulation on chaperone-mediated autophagy and α-synuclein pathology in Parkinson's disease

(2013) L Alvarez-Erviti et al.   Cell Death & Disease

Selective escape of proteins from the mitochondria during mitophagy

(2013) Shotaro Saita et al.   Nature Communications

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

Role of autophagy in immunity and autoimmunity, with a special focus on systemic lupus erythematosus

(2012) Marina Pierdominici et al.   FASEB JOURNAL

Disrupted Autophagy Leads to Dopaminergic Axon and Dendrite Degeneration and Promotes Presynaptic Accumulation of  -Synuclein and LRRK2 in the Brain

(2012) L. G. Friedman et al.   JOURNAL OF NEUROSCIENCE

Genetic analysis of the LAMP-2 gene promoter in patients with sporadic Parkinson's disease

(2012) Shuchao Pang et al.   NEUROSCIENCE LETTERS

Beclin 1 and autophagy are required for the tumorigenicity of breast cancer stem-like/progenitor cells

(2012) C Gong et al.   ONCOGENE

Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease

(2012) Ekaterina Yonova-Doing et al.   PARKINSONISM & RELATED DISORDERS

The Role of Chaperone-Mediated Autophagy in Huntingtin Degradation

(2012) Lin Qi et al.   PLoS One

Microautophagy in mammalian cells: Revisiting a 40-year-old conundrum

(2011) Dalibor Mijaljica et al.   Autophagy

Autophagy positively regulates the CD44+CD24-/lowbreast cancer stem-like phenotype

(2011) Sílvia Cufí et al.   CELL CYCLE

Suppression of autophagy by FIP200 deletion inhibits mammary tumorigenesis

(2011) H. Wei et al.   GENES & DEVELOPMENT

Autophagy-deficient mice develop multiple liver tumors

(2011) A. Takamura et al.   GENES & DEVELOPMENT

Genetic variants in autophagy-related genes and granuloma formation in a cohort of surgically treated Crohn's disease patients

(2011) Marko Brinar et al.   Journal of Crohns & Colitis

Induction of autophagy with catalytic mTOR inhibitors reduces huntingtin aggregates in a neuronal cell model

(2011) Ana Roscic et al.   JOURNAL OF NEUROCHEMISTRY

Constitutive Upregulation of Chaperone-Mediated Autophagy in Huntington's Disease

(2011) H. Koga et al.   JOURNAL OF NEUROSCIENCE

Autophagic degradation of tau in primary neurons and its enhancement by trehalose

(2011) Ulrike Krüger et al.   NEUROBIOLOGY OF AGING

Synergy and antagonism of macroautophagy and chaperone-mediated autophagy in a cell model of pathological tau aggregation

(2010) Yipeng Wang et al.   Autophagy

Chaperone-mediated autophagy: machinery, regulation and biological consequences

(2010) Wenming Li et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Age at onset in Huntington’s disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7

(2010) Silke Metzger et al.   HUMAN GENETICS

Genetic variation in the autophagy gene ULK1 and risk of Crohnʼs disease

(2010) Liesbet Henckaerts et al.   INFLAMMATORY BOWEL DISEASES

Lysosomal Degradation of α-Synucleinin Vivo

(2010) Sally K. Mak et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The regulation of autophagy - unanswered questions

(2010) Y. Chen et al.   JOURNAL OF CELL SCIENCE

Harnessing chaperone-mediated autophagy for the selective degradation of mutant huntingtin protein

(2010) Peter O Bauer et al.   NATURE BIOTECHNOLOGY

The Double-Edged Sword of Autophagy Modulation in Cancer

(2009) E. White et al.   CLINICAL CANCER RESEARCH

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

(2009) Ingo Kurth et al.   NATURE GENETICS

Oxidative damage to the promoter region of SQSTM1/p62 is common to neurodegenerative disease

(2009) Yifeng Du et al.   NEUROBIOLOGY OF DISEASE

Abberant α-Synuclein Confers Toxicity to Neurons in Part through Inhibition of Chaperone-Mediated Autophagy

(2009) Maria Xilouri et al.   PLoS One

Wild Type α-Synuclein Is Degraded by Chaperone-mediated Autophagy and Macroautophagy in Neuronal Cells

(2008) Tereza Vogiatzi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Frameshift mutations of autophagy-related genesATG2B, ATG5, ATG9BandATG12in gastric and colorectal cancers with microsatellite instability

(2008) Mi Ran Kang et al.   JOURNAL OF PATHOLOGY

Autophagy Is Essential for Preimplantation Development of Mouse Embryos

(2008) S. Tsukamoto et al.   SCIENCE