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Article

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

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Dec 2023

Li Yiduo, Zhang Cuizhen, Peng Gang

Abstract excerpt

Biallelic mutations in AP4S1, the σ4 subunit of the adaptor protein complex 4 (AP-4), lead to autosomal recessive spastic paraplegia 52 (SPG52). It is a subtype of AP-4-associated hereditary spastic paraplegia (AP-4-HSP), a complex childhood-onset neurogenetic disease characterized by progressive spastic paraplegia of the lower limbs. This disease has so far lacked effective treatment, in part due to a lack of...

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PMID: 37767851
DOI: 10.1002/jdn.10303

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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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