A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics
Abstract Objective Haploinsufficiency is widely accepted as the pathogenic mechanism of hereditary spastic paraplegias type 4 (SPG4). However, there are some cases that cannot be explained by reduced function of the spastin protein encoded by SPAST. The aim of this study was to identify the causativ...
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| Principais autores: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BMC
2023-12-01
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| Series: | BMC Medical Genomics |
| Assuntos: | |
| Acceso en liña: | https://doi.org/10.1186/s12920-023-01759-6 |
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