Affiliation:
1. State Key Laboratory of Medical Neurobiology, Ministry of Education Frontiers Center for Brain Science, and Institutes of Brain Science Fudan University Shanghai China
Abstract
AbstractBiallelic 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.
Funder
Science and Technology Innovation Plan Of Shanghai Science and Technology Commission
National Key Research and Development Program of China
Shanghai Center for Brain Science and Brain-Inspired Technology
Subject
Developmental Biology,Developmental Neuroscience
Cited by
2 articles.
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