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Jionglin Bao

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Cryo-EM structures of biopsy-derived TTR fibrils in hereditary transthyretin amyloidosis

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By Yuxin Zheng, Jiawei Liang, Zhenyu Li, Yixiao Liu, Xujun Chu, Shaochong Zhang, Wenjuan Wang, Boyu Liu, Guowei Yin, Jianwen Deng, Wei Chi, Lingchao Meng, Jionglin Bao, Conghui Ma
| Nature Verified
Abstract Hereditary transthyretin amyloidosis (ATTRv) is a fatal autosomal dominant disease characterized by systemic deposition of transthyretin (TTR) amyloid fibrils, leading to progressive neuropathy and cardiomyopathy. More than 130 pathogenic mutations in the TTR gene have been identified, but their roles in TTR fibril formation and disease pathogenesis remain unclear.
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