Associated Papers
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.
Kaminska K et al.
American Journal of Human Genetics, 2025
40081374 (PubMed )
Supplement: mmc3.xlsx › Table_S2
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG48
Early Diagnosis of AP5Z1/SPG48 Spastic Paraplegia: Case Report and Review of the Literature.
Papoff FMA et al.
Neuropediatrics, 2024
Hereditary spastic paraplegia (SPG 48) with deafness and azoospermia: A case report.
Jin P et al.
Frontiers in Neurology, 2023
Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.
Breza M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
[A case of spastic paraplegia 48 with a novel mutation in the AP5Z1 gene].
Maruta K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2020
Role of the AP-5 adaptor protein complex in late endosome-to-Golgi retrieval.
Hirst J et al.
Plos Biology, 2018
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).
Hirst J et al.
Neurology. Genetics, 2016
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.
Hirst J et al.
Human Molecular Genetics, 2015
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