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Profilin1 biology and its mutation, actin(g) in disease

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Abstract

Profilins were discovered in the 1970s and were extensively studied for their significant physiological roles. Profilin1 is the most prominent isoform and has drawn special attention due to its role in the cytoskeleton, cell signaling, and its link to conditions such as cancer and vascular hypertrophy. Recently, multiple mutations in the profilin1 gene were linked to amyotrophic lateral sclerosis (ALS). In this review, we will discuss the physiological and pathological roles of profilin1. We will further highlight the cytoskeletal function and dysfunction caused by profilin1 dysregulation. Finally, we will discuss the implications of mutant profilin1 in various diseases with an emphasis on its contribution to the pathogenesis of ALS.

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Acknowledgments

The authors are grateful to Dr. Nancy Rusch for helpful discussions and comments on the manuscript. Dr. Ziad Ghneim is acknowledged for his edits and constructive discussions. This work was supported by funds from a UAMS startup fund, the UAMS Center for Translational Neurosciences, NIGMS IDeA Program Award P30 GM110702, and NINDS R21 (NS088653). E.Z.F. contributed to this study at UAMS as a Metcalf intern from University of Chicago.

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Correspondence to Mahmoud Kiaei.

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Alkam, D., Feldman, E.Z., Singh, A. et al. Profilin1 biology and its mutation, actin(g) in disease. Cell. Mol. Life Sci. 74, 967–981 (2017). https://doi.org/10.1007/s00018-016-2372-1

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