Article

Missense Mutant Gain-of-Function Causes Inverted Formin 2 (INF2)-Related Focal Segmental Glomerulosclerosis (FSGS)

2024-06-10

Abstract excerpt

<h4>ABSTRACT</h4> Inverted formin-2 (INF2) gene mutations are among the most common causes of genetic focal segmental glomerulosclerosis (FSGS) with or without Charcot-Marie-Tooth (CMT) disease. Recent studies suggest that INF2, through its effects on actin and microtubule arrangement, can regulate processes including vesicle trafficking, cell adhesion, mitochondrial calcium uptake, mitochondrial fission, and T-c...

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Literature Corpus work: f1848d58-bb55-5c7b-a48a-bb38590cbabc
DOI: 10.1101/2024.06.08.598088

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