A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics
Jie Wang, Yihan Wu, Hong Dong, Yunpeng Ji, Lichun Zhang, Yaxian Liu, Yueshi Liu, Xin Gao, Yueqi Jia, Xiaohua Wang · 2023
Read A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics by Jie Wang, Yihan Wu, Hong Dong, Yunpeng Ji, Lichun Zhang, Yaxian Liu, Yueshi Liu, Xin Gao, Yueqi Jia, Xiaohua Wang (2023) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-10704811.txt.
Description
Jie Wang and nine co-authors find a fresh gene fault in a large kindred with a stiff-leg disease, and trace how it harms the cell. Their study is from two thousand twenty-three.
The reigning view held the disease comes from too little of the gene's protein, which trims cell rails. Some cases do not fit that tale. The team read the full gene text of a five-span kindred of near fifty souls, with a small set ill. A shift fault in the gene was found. Lab tests on the changed protein showed it piles up, not fades, and fouls the rails' play. That gives a new path for the disease.
Catalog record
| CREATOR | Jie Wang, Yihan Wu, Hong Dong, Yunpeng Ji, Lichun Zhang, Yaxian Liu, Yueshi Liu, Xin Gao, Yueqi Jia, Xiaohua Wang |
|---|---|
| YEAR | 2023 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 25 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |