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

25 Mar 2020

Abstract excerpt

Autosomal recessive spastic paraplegia 52 is caused by biallelic mutations in AP4S1 which encodes a subunit of the adaptor protein complex 4 (AP-4). Using next-generation sequencing, we identified three novel unrelated SPG52 patients from a cohort of patients with cerebral palsy. The discovered variants in AP4S1 lead to reduced AP-4 complex formation in patient-derived fibroblasts. To further understand the role...

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PMID: 32216065
DOI: 10.1002/acn3.51018

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