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Complex genetics of Alport and Goodpasture syndromes
Nature Reviews Nephrology ( IF 41.5 ) Pub Date : 2021-06-17 , DOI: 10.1038/s41581-021-00451-1
Karl Tryggvason 1, 2, 3
Affiliation  

Proper glomerular basement membrane (GBM) structure and function are required for appropriate glomerular filtration and abnormalities in the α3α4α5 (α345) network of collagen IV — a GBM component — can lead to disease. New insights into the mechanisms underlying α345 hexamer assembly and function from genetic and structural data identify possible targets for therapeutic modulation.

中文翻译:

Alport 和 Goodpasture 综合征的复杂遗传学

适当的肾小球滤过需要适当的肾小球基底膜 (GBM) 结构和功能,而 IV 型胶原蛋白 α3α4α5 (α345) 网络的异常会导致疾病。从遗传和结构数据中对 α345 六聚体组装和功能的潜在机制的新见解确定了治疗调节的可能目标。
更新日期:2021-06-18
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