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Article

Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease.

PloS one - 1 Jan 2021

Trefzer Raphael, Elpeleg Orly, Gabrusskaya Tatyana, Stepensky Polina, Mor-Shaked Hagar, Grosse Robert, Brandt Dominique T

Abstract excerpt

Diaphanous related formins are highly conserved proteins regulated by Rho-GTPases that act as actin nucleation and assembly factors. Here we report the functional characterization of a non-inherited heterozygous FMNL2 p.L136P mutation carried by a patient who presented with severe very early onset inflammatory bowel disease (IBD). We found that the FMNL2 L136P protein displayed subcellular mislocalization and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34043722
DOI: 10.1371/journal.pone.0252428
PMCID: PMC8158924

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