X-ray crystal structure of human ferritin pathogenic mutant LN2 (DNA mutation c.497_498dupTC, causing the amino acid change p.Phe167SerfsX26)

Crystal structure of the human ferritin mutant LN2, associated with the neurodegenerative disorder neuroferritinopathy (MeSH term: C548080; Orphanet classification: Disorder; ICD-11 code: 8A01.1Y – chorea due to neuroferritinopathy). The findings suggest increased permeability of the mutant at the fourfold pore, resulting in a ferritin variant with reduced iron storage capacity, which may trigger inflammation and neurodegeneration.

本数据集包含与神经退行性疾病神经铁蛋白病相关的人铁蛋白突变体LN2的晶体结构（医学主题词表（Medical Subject Headings，MeSH）术语：C548080；Orphanet分类：疾病；国际疾病分类第11版（International Classification of Diseases 11th Revision, ICD-11）编码：8A01.1Y——神经铁蛋白病所致舞蹈症）。研究结果显示，该突变体在四重孔道处的通透性升高，由此产生的铁蛋白变体的铁存储能力降低，这可能诱发炎症反应与神经退行性病变。