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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| Main Authors: | , , , , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2023-12-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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