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

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

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

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

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

(2018) Angelica D'Amore et al.   Frontiers in Neurology

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

(2017) Katharina Vill et al.   MOVEMENT DISORDERS

Semaphorin4D promotes axon regrowth and swimming ability during recovery following zebrafish spinal cord injury

(2017) Shi-xiao Peng et al.   NEUROSCIENCE

Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan

(2016) Maria Marchese et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Identification of mutations inAP4S1/SPG52 through next generation sequencing in three families

(2016) A. Tessa et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

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

(2014) Martin Kircher et al.   NATURE GENETICS

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

Genetic and chemical modulation of spastin-dependent axon outgrowth in zebrafish embryos indicates a role for impaired microtubule dynamics in hereditary spastic paraplegia

(2010) R. Butler et al.   Disease Models & Mechanisms

Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway

(2010) Coralie Fassier et al.   NATURE NEUROSCIENCE

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

(2010) Laura Southgate et al.   NEUROGENETICS