Ap4s1 truncation leads to axonal defects in a zebrafish model of spastic paraplegia 52.
Int J Dev Neurosci
; 83(8): 753-764, 2023 Dec.
Article
em En
| MEDLINE
| ID: mdl-37767851
ABSTRACT
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 suitable animal models. Here, we used CRISPR/Cas9 technology to generate a truncation mutation in the ap4s1 gene in zebrafish. The ap4s1 truncation led to motor impairment, delayed neurodevelopment, and distal axonal degeneration. This animal model is useful for further research into AP-4 and AP-4-HSP.
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Base de dados:
MEDLINE
Assunto principal:
Peixe-Zebra
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Paraplegia Espástica Hereditária
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Modelos Animais de Doenças
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article