Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG47
Identification and analyses of exonic and copy number variants in spastic paraplegia.
Shafique A et al.
Scientific Reports, 2024
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D et al.
Brain Communications, 2021
34729478 (PubMed )
Supplement: fcab221_supplementary_data.zip › Supplementary_File_1.xlsx › Reported_AP-4_variants
Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report.
Ruan WC et al.
Bmc Medical Genetics, 2020
32171285 (PubMed )
Supplement: 12881_2020_988_MOESM1_ESM.xlsx › Sheet1
AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A.
Davies AK et al.
Nature Communications, 2018
A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.
Accogli A et al.
American Journal of Medical Genetics. Part A, 2018
Clinical and genetic characterization of AP4B1-associated SPG47.
Ebrahimi-Fakhari D et al.
American Journal of Medical Genetics. Part A, 2018
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
Abdollahpour H et al.
European Journal of Human Genetics : Ejhg, 2015
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .
Bauer P et al.
Neurogenetics, 2012
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
Abou Jamra R et al.
American Journal of Human Genetics, 2011
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