Actin mutations and their role in disease

F Parker, TG Baboolal, M Peckham - International Journal of Molecular …, 2020 - mdpi.com
Actin is a widely expressed protein found in almost all eukaryotic cells. In humans, there are
six different genes, which encode specific actin isoforms. Disease-causing mutations have …

Small-molecule inhibitors of myosin proteins

LM Bond, DA Tumbarello… - Future medicinal …, 2013 - Taylor & Francis
Advances in screening and computational methods have enhanced recent efforts to
discover/design small-molecule protein inhibitors. One attractive target for inhibition is the …

Cryo-EM structure of a human cytoplasmic actomyosin complex at near-atomic resolution

J Ecken, SM Heissler, S Pathan-Chhatbar, DJ Manstein… - Nature, 2016 - nature.com
The interaction of myosin with actin filaments is the central feature of muscle contraction and
cargo movement along actin filaments of the cytoskeleton. The energy for these movements …

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

MF Wangler, C Gonzaga-Jauregui, T Gambin… - PLoS …, 2014 - journals.plos.org
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of
enteric smooth muscle function affecting the intestine and bladder. Patients with this severe …

Identification of cation-binding sites on actin that drive polymerization and modulate bending stiffness

H Kang, MJ Bradley, BR McCullough… - Proceedings of the …, 2012 - National Acad Sciences
The assembly of actin monomers into filaments and networks plays vital roles throughout
eukaryotic biology, including intracellular transport, cell motility, cell division, determining …

Distinct functional interactions between actin isoforms and nonsarcomeric myosins

M Müller, RP Diensthuber, I Chizhov, P Claus… - PloS one, 2013 - journals.plos.org
Despite their near sequence identity, actin isoforms cannot completely replace each other in
vivo and show marked differences in their tissue-specific and subcellular localization. Little …

The non-muscle actinopathy-associated mutation E334Q in cytoskeletal γ-actin perturbs interaction of actin filaments with myosin and ADF/cofilin family proteins

JN Greve, A Marquardt, R Heiringhoff, T Reindl, C Thiel… - ELife, 2024 - elifesciences.org
Various heterozygous cytoskeletal γ-actin mutations have been shown to cause Baraitser–
Winter cerebrofrontofacial syndrome, non-syndromic hearing loss, or isolated eye coloboma …

Thymosin β4 regulates focal adhesion formation in human melanoma cells and affects their migration and invasion

A Makowiecka, N Malek, E Mazurkiewicz… - Frontiers in cell and …, 2019 - frontiersin.org
Thymosin β4 (Tβ4), a multifunctional 44-amino acid polypeptide and a member of actin-
binding proteins (ABPs), plays an important role in developmental processes and wound …

Classifying cardiac actin mutations associated with hypertrophic cardiomyopathy

EA Despond, JF Dawson - Frontiers in Physiology, 2018 - frontiersin.org
Mutations in the cardiac actin gene (ACTC1) are associated with the development of
hypertrophic cardiomyopathy (HCM). To date, 12 different ACTC1 mutations have been …

Regulation of actin by ion-linked equilibria

H Kang, MJ Bradley, WA Elam, M Enrique - Biophysical journal, 2013 - cell.com
Actin assembly, filament mechanical properties, and interactions with regulatory proteins
depend on the types and concentrations of salts in solution. Salts modulate actin through …