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Updated: Jan 13, 2026

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新发现的ARF3变体加强了戈尔吉分裂和大脑形之间的因果关系

Valentina Muto1,2, Giulia Fasano3, Francesca Clementina Radio1

  • 1Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.

European journal of human genetics : EJHG
|January 8, 2026
PubMed
概括

在ARF3中,新的遗传变异通过破坏Golgi完整性和囊泡运输,导致发育障碍. 这些ARF3突变导致小头症和大脑缩,突显了神经系统对戈尔吉功能障碍的脆弱性.

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相关概念视频

Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining,...
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