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

Profilin1 biology and its mutation, actin(g) in disease.
Cell Mol Life Sci. 2016 Sep 26;
Authors: Alkam D, Feldman EZ, Singh A, Kiaei M
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.
PMID: 27669692 [PubMed - as supplied by publisher]

Source: Cellular and Molecular Life Sciences : CMLS - September 25, 2016 Category: Cytology Authors: Alkam D, Feldman EZ, Singh A, Kiaei M Tags: Cell Mol Life Sci Source Type: research