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

Atg9a deficiency causes axon-specific lesions including neuronal circuit dysgenesis

(2018) Junji Yamaguchi et al.   Autophagy

Neuronal functions of adaptor complexes involved in protein sorting

(2018) Carlos M Guardia et al.   CURRENT OPINION IN NEUROBIOLOGY

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

BORC/kinesin-1 ensemble drives polarized transport of lysosomes into the axon

(2017) Ginny G. Farías et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autophagy-Independent Lysosomal Targeting Regulated by ULK1/2-FIP200 and ATG9

(2017) Jonathan M. Goodwin et al.   Cell Reports

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

(2016) Susan Byrne et al.   BRAIN

Compartment-Specific Regulation of Autophagy in Primary Neurons

(2016) Sandra Maday et al.   JOURNAL OF NEUROSCIENCE

The Vici Syndrome Protein EPG5 Is a Rab7 Effector that Determines the Fusion Specificity of Autophagosomes with Late Endosomes/Lysosomes

(2016) Zheng Wang et al.   MOLECULAR CELL

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering

(2015) M. Hashim Raza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The autophagy geneWdr45/Wipi4regulates learning and memory function and axonal homeostasis

(2015) Yan G Zhao et al.   Autophagy

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

(2015) Takashi Kojima et al.   Reproductive Biology

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

Autosomal recessive spastic tetraplegia caused byAP4M1andAP4B1gene mutation: Expansion of the facial and neuroimaging features

(2014) Beyhan Tüysüz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

(2014) Timothy J. Edwards et al.   BRAIN

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

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

(2014) Temistocle Lo Giudice et al.   EXPERIMENTAL NEUROLOGY

Insights into the physiological function of the β-amyloid precursor protein: beyond Alzheimer's disease

(2014) Edgar Dawkins et al.   JOURNAL OF NEUROCHEMISTRY

Role ofEpg5in selective neurodegeneration and Vici syndrome

(2013) Yan G. Zhao et al.   Autophagy

Biology and trafficking of ATG9 and ATG16L1, two proteins that regulate autophagosome formation

(2013) Eszter Zavodszky et al.   FEBS LETTERS

Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration

(2013) Kaya Bilguvar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of Spastin Function Results in Disease-Specific Axonal Defects in Human Pluripotent Stem Cell-Based Models of Hereditary Spastic Paraplegia

(2013) Kyle R. Denton et al.   STEM CELLS

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

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

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

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

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

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

(2012) Thomas Cullup et al.   NATURE GENETICS

Axonal transport deficit in a KIF5A –/– mouse model

(2012) Kathrin N. Karle et al.   NEUROGENETICS

Signal-Mediated, AP-1/Clathrin-Dependent Sorting of Transmembrane Receptors to the Somatodendritic Domain of Hippocampal Neurons

(2012) Ginny G. Farías et al.   NEURON

Adaptor Protein Complexes AP-4 and AP-5: New Players in Endosomal Trafficking and Progressive Spastic Paraplegia

(2012) Jennifer Hirst et al.   TRAFFIC

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

Brain regions and genes affecting limb-clasping responses

(2011) R. Lalonde et al.   BRAIN RESEARCH REVIEWS

Central nervous system dysfunction in a mouse model of Fa2h deficiency

(2011) Kathleen A. Potter et al.   GLIA

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

(2011) William C. Skarnes et al.   NATURE

Sorting of the Alzheimer's Disease Amyloid Precursor Protein Mediated by the AP-4 Complex

(2010) Patricia V. Burgos et al.   DEVELOPMENTAL CELL

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

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

Neural-specific Deletion of FIP200 Leads to Cerebellar Degeneration Caused by Increased Neuronal Death and Axon Degeneration

(2009) Chun-Chi Liang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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