Ap4s1 truncation leads to axonal defects in a zebrafish model of spastic paraplegia 52

Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4‐Related Hereditary Spastic Paraplegia

(2023) Julian E. Alecu et al.   MOVEMENT DISORDERS

AP-4-mediated axonal transport controls endocannabinoid production in neurons

(2022) Alexandra K. Davies et al.   Nature Communications

The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment

(2022) Arun Meyyazhagan et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

AP-4 regulates neuronal lysosome composition, function, and transport via regulating export of critical lysosome receptor proteins at the trans-Golgi network

(2022) Piyali Majumder et al.   MOLECULAR BIOLOGY OF THE CELL

The adaptor protein chaperone AAGAB stabilizes AP-4 complex subunits

(2022) Rafael Mattera et al.   MOLECULAR BIOLOGY OF THE CELL

Kiaa1024L/Minar2 is essential for hearing by regulating cholesterol distribution in hair bundles

(2022) Ge Gao et al.   eLife

AP-4 loss in CRISPR-edited zebrafish affects early embryo development

(2022) Olivia G. Pembridge et al.   Advances in Biological Regulation

Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50)

(2021) Kathrin Eberhardt et al.   Stem Cell Research

Resveratrol Alleviates 27-Hydroxycholesterol-Induced Senescence in Nerve Cells and Affects Zebrafish Locomotor Behavior via Activation of SIRT1-Mediated STAT3 Signaling

(2021) Jiao Liu et al.   Oxidative Medicine and Cellular Longevity

ubtor Mutation Causes Motor Hyperactivity by Activating mTOR Signaling in Zebrafish

(2021) Tiantian Wang et al.   Neuroscience Bulletin

Modelling spinal locomotor circuits for movements in developing zebrafish

(2021) Yann Roussel et al.   eLife

Obesity Causes Abrupt Changes in the Testicular Microbiota and Sperm Motility of Zebrafish

(2021) Yufang Su et al.   Frontiers in Immunology

nr0b1 (DAX1) loss of function in zebrafish causes hypothalamic defects via abnormal progenitor proliferation and differentiation

(2021) Wei Zhang et al.   Journal of Genetics and Genomics

Integrating structural and evolutionary data to interpret variation and pathogenicity in adapter protein complex 4

(2020) John E. Gadbery et al.   PROTEIN SCIENCE

Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52

(2020) Angelica D’Amore et al.   Annals of Clinical and Translational Neurology

Knockout of stim2a Increases Calcium Oscillations in Neurons and Induces Hyperactive-Like Phenotype in Zebrafish Larvae

(2020) Rishikesh Kumar Gupta et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Clinical and genetic update of hereditary spastic paraparesis

(2020) P. Lallemant-Dudek et al.   REVUE NEUROLOGIQUE

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

(2019) Davor Ivankovic et al.   Autophagy

Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

(2019) Samuel Shribman et al.   LANCET NEUROLOGY

Coatopathies: Genetic Disorders of Protein Coats

(2019) Esteban C. Dell'Angelica et al.   Annual Review of Cell and Developmental Biology

Utilizing RNA and outlier analysis to identify an intronic splice‐altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia

(2019) Carmel G. McCullough et al.   HUMAN MUTATION

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

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

(2019) Robert Behne et al.   HUMAN MOLECULAR GENETICS

Swimming in Deep Water: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia

(2019) Valentina Naef et al.   Frontiers in Neuroscience

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

(2019) Darius Ebrahimi-Fakhari et al.   BRAIN

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

Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish

(2018) Hortense de Calbiac et al.   Annals of Clinical and Translational Neurology

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

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

Adaptor protein complexes and intracellular transport

(2014) Sang Yoon Park et al.   BIOSCIENCE REPORTS

Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth

(2013) B. Schmid et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Resveratrol-Activated AMPK/SIRT1/Autophagy in Cellular Models of Parkinson’s Disease

(2011) Yuncheng Wu et al.   NEUROSIGNALS

A structural explanation for the binding of endocytic dileucine motifs by the AP2 complex

(2008) Bernard T. Kelly et al.   NATURE