Axonal autophagosome maturation defect through failure of ATG9A sorting underpins pathology in AP-4 deficiency syndrome

Atg9a deficiency causes axon-specific lesions including neuronal circuit dysgenesis

(2018) Junji Yamaguchi et al.   Autophagy

The ER Contact Proteins VAPA/B Interact with Multiple Autophagy Proteins to Modulate Autophagosome Biogenesis

(2018) Yan G. Zhao et al.   CURRENT BIOLOGY

Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome

(2018) Raffaella De Pace et al.   PLoS Genetics

AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A

(2018) Alexandra K. Davies et al.   Nature Communications

Autophagy in the presynaptic compartment in health and disease

(2017) Vinoy Vijayan et al.   JOURNAL OF CELL BIOLOGY

Bassoon Controls Presynaptic Autophagy through Atg5

(2017) Nathan D. Okerlund et al.   NEURON

AP-4 mediates export of ATG9A from thetrans-Golgi network to promote autophagosome formation

(2017) Rafael Mattera et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An Essential Role for the Tetraspanin LHFPL4 in the Cell-Type-Specific Targeting and Clustering of Synaptic GABA A Receptors

(2017) Elizabeth C. Davenport et al.   Cell Reports

Full length RTN3 regulates turnover of tubular endoplasmic reticulum via selective autophagy

(2017) Paolo Grumati et al.   eLife

KIF1A/UNC-104 Transports ATG-9 to Regulate Neurodevelopment and Autophagy at Synapses

(2016) Andrea K.H. Stavoe et al.   DEVELOPMENTAL CELL

Miro1‐dependent mitochondrial positioning drives the rescaling of presynaptic Ca 2+ signals during homeostatic plasticity

(2016) Victoria Vaccaro et al.   EMBO REPORTS

Compartment-Specific Regulation of Autophagy in Primary Neurons

(2016) Sandra Maday et al.   JOURNAL OF NEUROSCIENCE

High-throughput discovery of novel developmental phenotypes

(2016) Mary E. Dickinson et al.   NATURE

Digesting the Expanding Mechanisms of Autophagy

(2016) Nicholas T. Ktistakis et al.   TRENDS IN CELL BIOLOGY

Autophagy initiation by ULK complex assembly on ER tubulovesicular regions marked by ATG9 vesicles

(2016) Eleftherios Karanasios et al.   Nature Communications

Loss of Dendritic Complexity Precedes Neurodegeneration in a Mouse Model with Disrupted Mitochondrial Distribution in Mature Dendrites

(2016) Guillermo López-Doménech et al.   Cell Reports

Long-distance autophagy

(2015) Aileen R Ariosa et al.   Autophagy

Axonal autophagosomes use the ride-on service for retrograde transport toward the soma

(2015) Xiu-Tang Cheng et al.   Autophagy

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

(2015) Christelle Tesson et al.   HUMAN GENETICS

Bivalent Motif-Ear Interactions Mediate the Association of the Accessory Protein Tepsin with the AP-4 Adaptor Complex

(2015) Rafael Mattera et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

DISC1-dependent Regulation of Mitochondrial Dynamics Controls the Morphogenesis of Complex Neuronal Dendrites

(2015) Rosalind Norkett et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Regulation of endoplasmic reticulum turnover by selective autophagy

(2015) Aliaksandr Khaminets et al.   NATURE

Receptor-mediated selective autophagy degrades the endoplasmic reticulum and the nucleus

(2015) Keisuke Mochida et al.   NATURE

Endolysosomal Deficits Augment Mitochondria Pathology in Spinal Motor Neurons of Asymptomatic fALS Mice

(2015) Yuxiang Xie et al.   NEURON

Role of the Atg9a gene in intrauterine growth and survival of fetal mice

(2015) Takashi Kojima et al.   Reproductive Biology

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11

(2015) Rita-Eva Varga et al.   PLoS Genetics

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

(2015) Katia Hardies et al.   HUMAN MOLECULAR GENETICS

LC3 Binding to the Scaffolding Protein JIP1 Regulates Processive Dynein-Driven Transport of Autophagosomes

(2014) Meng-meng Fu et al.   DEVELOPMENTAL CELL

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

(2014) Sandra Maday et al.   DEVELOPMENTAL CELL

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

(2014) Hengameh Abdollahpour et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia

(2014) Francesc Pérez-Brangulí et al.   HUMAN MOLECULAR GENETICS

Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation

(2014) Jaerak Chang et al.   JOURNAL OF CLINICAL INVESTIGATION

The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines

(2014) M Pathania et al.   Translational Psychiatry

Regulation of nutrient-sensitive autophagy by uncoordinated 51-like kinases 1 and 2

(2013) Fiona McAlpine et al.   Autophagy

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

(2013) Chiara Vantaggiato et al.   BRAIN

Pathogenesis of Autosomal Dominant Hereditary Spastic Paraplegia (SPG6) Revealed by a Rat Model

(2013) Fumihiro Watanabe et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System

(2013) Mukhran Khundadze et al.   PLoS Genetics

Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

(2012) Danit Oz-Levi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice

(2012) C. Fassier et al.   Disease Models & Mechanisms

Disrupted in Schizophrenia 1 forms pathological aggresomes that disrupt its function in intracellular transport

(2012) Talia A. Atkin et al.   HUMAN MOLECULAR GENETICS

Autophagosomes initiate distally and mature during transport toward the cell soma in primary neurons

(2012) Sandra Maday et al.   JOURNAL OF CELL BIOLOGY

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

(2012) Gladys Montenegro et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

(2011) Rami Abou Jamra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Role of Atg Proteins in Autophagosome Formation

(2011) Noboru Mizushima et al.   Annual Review of Cell and Developmental Biology

Lysosomal Proteolysis Inhibition Selectively Disrupts Axonal Transport of Degradative Organelles and Causes an Alzheimer's-Like Axonal Dystrophy

(2011) S. Lee et al.   JOURNAL OF NEUROSCIENCE

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

A conditional knockout resource for the genome-wide study of mouse gene function

(2011) William C. Skarnes et al.   NATURE

Differential control of presynaptic efficacy by postsynaptic N-cadherin and β-catenin

(2011) Nathalia Vitureira et al.   NATURE NEUROSCIENCE

Ammonia-induced autophagy is independent of ULK1/ULK2 kinases

(2011) H. Cheong et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Chaperone-Mediated Autophagy Markers in Parkinson Disease Brains

(2010) Lydia Alvarez-Erviti et al.   ARCHIVES OF NEUROLOGY

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

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

Emerging themes of ER organization in the development and maintenance of axons

(2010) Benoît Renvoisé et al.   CURRENT OPINION IN NEUROBIOLOGY

New insights into the function of Atg9

(2010) Jemma L. Webber et al.   FEBS LETTERS

α-Synuclein impairs macroautophagy: implications for Parkinson’s disease

(2010) Ashley R. Winslow et al.   JOURNAL OF CELL BIOLOGY

Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network

(2010) Seong H. Park et al.   JOURNAL OF CLINICAL INVESTIGATION

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

(2010) A. Moreno-De-Luca et al.   JOURNAL OF MEDICAL GENETICS

The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1

(2010) Emmanuel J. Botzolakis et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Snapin-Regulated Late Endosomal Transport Is Critical for Efficient Autophagy-Lysosomal Function in Neurons

(2010) Qian Cai et al.   NEURON

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

(2009) Annemieke J.M.H. Verkerk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Globally optimal stitching of tiled 3D microscopic image acquisitions

(2009) S. Preibisch et al.   BIOINFORMATICS

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

Accumulation of AMPA Receptors in Autophagosomes in Neuronal Axons Lacking Adaptor Protein AP-4

(2008) Shinji Matsuda et al.   NEURON