Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking

Novel Insights Into The Clinical And Molecular Spectrum Of Congenital Disorders of Autophagy

(2019) Julian Teinert et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2019) Davor Ivankovic et al.   Autophagy

Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47)

(2019) Julian Teinert et al.   Stem Cell Research

Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias

(2018) Kyle Denton et al.   HUMAN MOLECULAR GENETICS

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

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

(2018) Philip Seibler et al.   BRAIN

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

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

Best Practices for Translational Disease Modeling Using Human iPSC-Derived Neurons

(2018) Sandra J. Engle et al.   NEURON

A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation

(2017) Katharina Vill et al.   MOVEMENT DISORDERS

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

Amyloid precursor protein traffics from the Golgi directly to early endosomes in an Arl5b- and AP4-dependent pathway

(2017) Wei Hong Toh et al.   TRAFFIC

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

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

GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient induced pluripotent stem cell model

(2016) Himanshu K. Mishra et al.   ANNALS OF NEUROLOGY

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

(2016) Daniel J Klionsky et al.   Autophagy

Regulation of mATG9 trafficking by Src- and ULK1-mediated phosphorylation in basal and starvation-induced autophagy

(2016) Changqian Zhou et al.   CELL RESEARCH

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

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

Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells

(2016) Darius Ebrahimi-Fakhari et al.   HUMAN MOLECULAR GENETICS

Compartment-Specific Regulation of Autophagy in Primary Neurons

(2016) Sandra Maday et al.   JOURNAL OF NEUROSCIENCE

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

(2016) Eleftherios Karanasios et al.   Nature Communications

Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex

(2016) Darius Ebrahimi-Fakhari et al.   Cell Reports

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

(2015) Darius Ebrahimi-Fakhari et al.   BRAIN

Expression of the autophagy substrate SQSTM1/p62 is restored during prolonged starvation depending on transcriptional upregulation and autophagy-derived amino acids

(2014) Mayurbhai Himatbhai Sahani et al.   Autophagy

Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A

(2014) Peng-Peng Zhu et al.   HUMAN MOLECULAR GENETICS

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

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

Early Steps in Autophagy Depend on Direct Phosphorylation of Atg9 by the Atg1 Kinase

(2014) Daniel Papinski et al.   MOLECULAR CELL

Selective VPS34 inhibitor blocks autophagy and uncovers a role for NCOA4 in ferritin degradation and iron homeostasis in vivo

(2014) William E. Dowdle et al.   NATURE CELL BIOLOGY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

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

(2013) Susan J. Hayflick et al.   BRAIN

Rapid Single-Step Induction of Functional Neurons from Human Pluripotent Stem Cells

(2013) Yingsha Zhang et al.   NEURON

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

Multivariate proteomic profiling identifies novel accessory proteins of coated vesicles

(2012) Georg H.H. Borner et al.   JOURNAL OF CELL BIOLOGY

Atg9 vesicles are an important membrane source during early steps of autophagosome formation

(2012) Hayashi Yamamoto et al.   JOURNAL OF CELL BIOLOGY

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 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

Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis

(2011) Janine Kirby et al.   BRAIN

Distinct Roles In Vivo for the Ubiquitin-Proteasome System and the Autophagy-Lysosomal Pathway in the Degradation of  -Synuclein

(2011) D. Ebrahimi-Fakhari et al.   JOURNAL OF NEUROSCIENCE

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

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

An Atg9-containing compartment that functions in the early steps of autophagosome biogenesis

(2010) Muriel Mari et al.   JOURNAL OF CELL BIOLOGY

Atg9A Protein, an Autophagy-related Membrane Protein, Is Localized in the Neurons of Mouse Brains

(2010) Hirosumi Tamura et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

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