High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia.

doi:10.1038/s41467-023-44264-1

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Article

High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia.

Nature communications - 17 Jan 2024

Saffari Afshin, Brechmann Barbara, Böger Cedric, Saber Wardiya Afshar, Jumo Hellen, Whye Dosh, Wood Delaney, Wahlster Lara, Alecu Julian E, Ziegler Marvin, Scheffold Marlene, Winden Kellen, Hubbs Jed, Buttermore Elizabeth D, Barrett Lee, Borner Georg H H, Davies Alexandra K, Ebrahimi-Fakhari Darius, Sahin Mustafa

Abstract excerpt

Unbiased phenotypic screens in patient-relevant disease models offer the potential to detect therapeutic targets for rare diseases. In this study, we developed a high-throughput screening assay to identify molecules that correct aberrant protein trafficking in adapter protein complex 4 (AP-4) deficiency, a rare but prototypical form of childhood-onset hereditary spastic paraplegia characterized by mislocalization...

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Identifiers

PMID: 38233389
DOI: 10.1038/s41467-023-44264-1
PMCID: PMC10794252

Genes

ATG9A

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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