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 …
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 …
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 …
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
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of
enteric smooth muscle function affecting the intestine and bladder. Patients with this severe …
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
The assembly of actin monomers into filaments and networks plays vital roles throughout
eukaryotic biology, including intracellular transport, cell motility, cell division, determining …
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 …
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 …
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 …
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 …
hypertrophic cardiomyopathy (HCM). To date, 12 different ACTC1 mutations have been …
Regulation of actin by ion-linked equilibria
Actin assembly, filament mechanical properties, and interactions with regulatory proteins
depend on the types and concentrations of salts in solution. Salts modulate actin through …
depend on the types and concentrations of salts in solution. Salts modulate actin through …