(Q38191504)

30 August 2017

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title

Insights into the effects of disease-causing mutations in human actins (English)

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30 August 2017

Peter A Rubenstein

1

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PubMed ID

24574087

30 August 2017

Kuo-Kuang Wen

series ordinal

2

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30 August 2017

24 March 2014

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30 August 2017

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30 August 2017

71

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30 August 2017

4

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30 August 2017

211-229

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Translating human genetics into mouse: the impact of ultra-rapid in vivo genome editing

30 August 2017

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Characterization of yeast-expressed beta-actins, site-specifically mutated at the tumor-related residue Gly245

21 January 2018

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Site-specific amino-terminal mutants of yeast-expressed beta-actin. Characterization of the interaction with myosin and tropomyosin

21 January 2018

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A periodic pattern of evolutionarily conserved basic and acidic residues constitutes the binding interface of actin-tropomyosin

21 January 2018

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Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes

21 January 2018

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Visualization of actin filaments and monomers in somatic cell nuclei

21 January 2018

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Structure of the Rigor Actin-Tropomyosin-Myosin Complex

21 January 2018

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Mapping the interaction of cofilin with subdomain 2 on actin

21 January 2018

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Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin function

21 January 2018

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Ion-dependent polymerization differences between mammalian beta- and gamma-nonmuscle actin isoforms

21 January 2018

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Structural effects of cofilin on longitudinal contacts in F-actin

21 January 2018

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Cofilin (ADF) affects lateral contacts in F-actin

21 January 2018

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Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy

21 January 2018

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Fluorescence depolarization of actin filaments in reconstructed myofibers: the effect of S1 or pPDM-S1 on movements of distinct areas of actin

21 January 2018

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An intermediate form of ADP-F-actin

21 January 2018

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Allele-specific effects of human deafness gamma-actin mutations (DFNA20/26) on the actin/cofilin interaction

21 January 2018

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Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function.

21 January 2018

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Polylysine induces an antiparallel actin dimer that nucleates filament assembly: crystal structure at 3.5-A resolution

21 January 2018

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Formins regulate actin filament flexibility through long range allosteric interactions

21 January 2018

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Yeast actin: polymerization kinetic studies of wild type and a poorly polymerizing mutant

21 January 2018

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Actin polymerization and ATP hydrolysis

21 January 2018

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Crystallization and structure determination of bovine profilin at 2.0 A resolution

21 January 2018

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Yeast actin with a mutation in the "hydrophobic plug" between subdomains 3 and 4 (L266D) displays a cold-sensitive polymerization defect

21 January 2018

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Congenital myopathies: diseases of the actin cytoskeleton.

21 January 2018

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Structure of the actin-myosin complex in the presence of ATP.

21 January 2018

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Structural connectivity in actin: effect of C-terminal modifications on the properties of actin

21 January 2018

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Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro

21 January 2018

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The kinetics of cooperative cofilin binding reveals two states of the cofilin-actin filament

21 January 2018

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Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

21 January 2018

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Actin structure and function.

21 January 2018

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Actin structure and function: roles in mitochondrial organization and morphogenesis in budding yeast and identification of the phalloidin-binding site

21 January 2018

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Actin in hair cells and hearing loss

21 January 2018

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Beta and gamma-cytoplasmic actins display distinct distribution and functional diversity.

21 January 2018

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Structure determination and characterization of Saccharomyces cerevisiae profilin

21 January 2018

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Direct visualisation and kinetic analysis of normal and nemaline myopathy actin polymerisation using total internal reflection microscopy

21 January 2018

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Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies

21 January 2018

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Nuclear actin-related proteins take shape

21 January 2018

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Structural biochemistry of nuclear actin-related proteins 4 and 8 reveals their interaction with actin

21 January 2018

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Mechanisms of disease: hypertrophic cardiomyopathy

21 January 2018

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Direct visualization of secondary structures of F-actin by electron cryomicroscopy

21 January 2018

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Structural and functional reconstitution of thin filaments in the contractile apparatus of cardiac muscle

21 January 2018

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Differential distribution of beta- and gamma-actin in guinea-pig cochlear sensory and supporting cells

21 January 2018

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Remodeling of actin filaments by ADF/cofilin proteins

21 January 2018

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ADF/cofilin use an intrinsic mode of F-actin instability to disrupt actin filaments

21 January 2018

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Combined MRI and ³¹P-MRS investigations of the ACTA1(H40Y) mouse model of nemaline myopathy show impaired muscle function and altered energy metabolism

21 January 2018

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An actin-filament-binding interface on the Arp2/3 complex is critical for nucleation and branch stability

21 January 2018

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Actin from Saccharomyces cerevisiae

21 January 2018

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Mapping the cofilin binding site on yeast G-actin by chemical cross-linking

21 January 2018

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Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease

21 January 2018

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Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

21 January 2018

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Drosophila indirect flight muscle specific Act88F actin mutants as a model system for studying congenital myopathies of the human ACTA1 skeletal muscle actin gene.

21 January 2018

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Biochemical analysis of mammalian formin effects on actin dynamics

21 January 2018

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Intrastrand cross-linked actin between Gln-41 and Cys-374. I. Mapping of sites cross-linked in F-actin by N-(4-azido-2-nitrophenyl) putrescine

21 January 2018

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The C terminus of formin FMNL3 accelerates actin polymerization and contains a WH2 domain-like sequence that binds both monomers and filament barbed ends

21 January 2018

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Actin is part of pre-initiation complexes and is necessary for transcription by RNA polymerase II.

21 January 2018

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Atomic model of the actin filament

21 January 2018

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Mapping actin surfaces required for functional interactions in vivo

21 January 2018

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Beta actin and its mRNA are localized at the plasma membrane and the regions of moving cytoplasm during the cellular response to injury

21 January 2018

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Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms

21 January 2018

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Formin-g muscle cytoarchitecture

21 January 2018

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Formin follows function: a muscle-specific isoform of FHOD3 is regulated by CK2 phosphorylation and promotes myofibril maintenance

21 January 2018

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Two distinct phosphorylation events govern the function of muscle FHOD3.

21 January 2018

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The conformational state of actin filaments regulates branching by actin-related protein 2/3 (Arp2/3) complex

21 January 2018

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Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome

21 January 2018

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TALENs: a widely applicable technology for targeted genome editing

21 January 2018

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Expression and subcellular localization of mammalian formin Fhod3 in the embryonic and adult heart

21 January 2018

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Evidence for monomeric actin function in INO80 chromatin remodeling

21 January 2018

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Expression of chicken beta-actin in Saccharomyces cerevisiae

21 January 2018

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A chicken beta-actin gene can complement a disruption of the Saccharomyces cerevisiae ACT1 gene

21 January 2018

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Functional specificity of actin isoforms

21 January 2018

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Intrastrand cross-linked actin between Gln-41 and Cys-374. III. Inhibition of motion and force generation with myosin.

21 January 2018

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Intrastrand cross-linked actin between Gln-41 and Cys-374. II. Properties of cross-linked oligomers

21 January 2018

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Structural dynamics of the actin-myosin interface by site-directed spectroscopy

21 January 2018

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An actin subdomain 2 mutation that impairs thin filament regulation by troponin and tropomyosin.

21 January 2018

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Control of the assembly of ATP- and ADP-actin by formins and profilin.

21 January 2018

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Two deafness-causing (DFNA20/26) actin mutations affect Arp2/3-dependent actin regulation

21 January 2018

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Cofilin cross-bridges adjacent actin protomers and replaces part of the longitudinal F-actin interface.

21 January 2018

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A nucleotide state-sensing region on actin

21 January 2018

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Interaction of formin FH2 with skeletal muscle actin. EPR and DSC studies

21 January 2018

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Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

21 January 2018

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Actin depolymerization under force is governed by lysine 113:glutamic acid 195-mediated catch-slip bonds.

21 January 2018

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Tropomyosin and actin isoforms modulate the localization of tropomyosin strands on actin filaments.

21 January 2018

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An atomic model of the unregulated thin filament obtained by X-ray fiber diffraction on oriented actin-tropomyosin gels.

21 January 2018

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Thoracic aortic aneurysm (TAAD)-causing mutation in actin affects formin regulation of polymerization

21 January 2018

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α-cardiac actin mutations produce atrial septal defects

21 January 2018

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Cofilin-linked changes in actin filament flexibility promote severing

21 January 2018

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Nucleoplasmic beta-actin exists in a dynamic equilibrium between low-mobility polymeric species and rapidly diffusing populations.

21 January 2018

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ADF/cofilin weakens lateral contacts in the actin filament

21 January 2018

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Cofilin changes the twist of F-actin: implications for actin filament dynamics and cellular function

21 January 2018

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A mammalian actin substitution in yeast actin (H372R) causes a suppressible mitochondria/vacuole phenotype

21 January 2018

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Z-line formins promote contractile lattice growth and maintenance in striated muscles of C. elegans

21 January 2018

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Functional effects of nemaline myopathy mutations on human skeletal alpha-actin

21 January 2018

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Protein-protein interactions in the rigor actomyosin complex

21 January 2018

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Mutational analysis of the role of the N terminus of actin in actomyosin interactions. Comparison with other mutant actins and implications for the cross-bridge cycle

21 January 2018

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Nuclear actin and transcriptional activation

21 January 2018

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Nuclear actin in transcriptional reprogramming by oocytes: are actin nucleators key players?

21 January 2018

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Nuclear actin polymerization is required for transcriptional reprogramming of Oct4 by oocytes

21 January 2018

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Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects

21 January 2018

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In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

21 January 2018

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Cofilin induced conformational changes in F-actin expose subdomain 2 to proteolysis.

21 January 2018

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Molecular structure of the human cytoplasmic beta-actin gene: interspecies homology of sequences in the introns

21 January 2018

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A novel system for expressing toxic actin mutants in Dictyostelium and purification and characterization of a dominant lethal yeast actin mutant.

21 January 2018

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Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.

21 January 2018

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Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy

21 January 2018

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Nemaline myopathy caused by absence of alpha-skeletal muscle actin

21 January 2018

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The role of MeH73 in actin polymerization and ATP hydrolysis

21 January 2018

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Dynamic aspects of structural proteins in vertebrate skeletal muscle

21 January 2018

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The nature of the globular- to fibrous-actin transition

21 January 2018

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Structural dynamics of F-actin: I. Changes in the C terminus.

21 January 2018

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Actin-destabilizing factors disrupt filaments by means of a time reversal of polymerization

21 January 2018

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Myosin binding surface on actin probed by hydroxyl radical footprinting and site-directed labels

21 January 2018

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Conformational changes in actin filaments induced by formin binding to the barbed end.

21 January 2018

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β-actin and γ-actin are each dispensable for auditory hair cell development but required for Stereocilia maintenance

21 January 2018

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Effect of complexes of ADP and phosphate analogs on the conformation of the Cys707-Cys697 region of myosin subfragment 1.

21 January 2018

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Nuclear actin and myosin I are required for RNA polymerase I transcription.

21 January 2018

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Structure of the actin-myosin complex and its implications for muscle contraction

21 January 2018

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A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.

21 January 2018

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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

21 January 2018

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The structural basis of actin filament branching by the Arp2/3 complex

21 January 2018

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Actin microheterogeneity in chick embryo fibroblasts

21 January 2018

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Sequential activation of alpha-actin genes during avian cardiogenesis: vascular smooth muscle alpha-actin gene transcripts mark the onset of cardiomyocyte differentiation

21 January 2018

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Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments

21 January 2018

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Diaphanous homolog 3 (Diap3) overexpression causes progressive hearing loss and inner hair cell defects in a transgenic mouse model of human deafness

21 January 2018

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Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila

21 January 2018

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The structure of crystalline profilin-beta-actin

21 January 2018

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Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle.

21 January 2018

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Actin hydrophobic loop 262-274 and filament nucleation and elongation

21 January 2018

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Cytoplasmic gamma-actin is not required for skeletal muscle development but its absence leads to a progressive myopathy

21 January 2018

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Cryo-EM Structures of the Actin:Tropomyosin Filament Reveal the Mechanism for the Transition from C- to M-State

21 January 2018

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Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

21 January 2018

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Chick cytoplasmic actin and muscle actin have different structural genes

21 January 2018

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Myosinopathies: pathology and mechanisms

21 January 2018

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Mammalian formin fhod3 regulates actin assembly and sarcomere organization in striated muscles

21 January 2018

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Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

21 January 2018

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FMNL3 FH2–actin structure gives insight into formin-mediated actin nucleation and elongation

21 January 2018

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Actin isoform expression patterns during mammalian development and in pathology: insights from mouse models

21 January 2018

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The effects of formins on the conformation of subdomain 1 in actin filaments

21 January 2018

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A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)

21 January 2018

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Phenotypes induced by NM causing alpha-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes

21 January 2018

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Actin Amino-Acid Sequences. Comparison of Actins from Calf Thymus, Bovine Brain, and SV40-Transformed Mouse 3T3 Cells with Rabbit Skeletal Muscle Actin

21 January 2018

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Nuclear actin regulates dynamic subcellular localization and activity of the SRF cofactor MAL.

21 January 2018

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Myopathy-causing actin mutations promote defects in serum-response factor signalling

21 January 2018

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Consensus statement on standard of care for congenital myopathies

21 January 2018

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Control of the ability of profilin to bind and facilitate nucleotide exchange from G-actin

21 January 2018

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Importance of a Lys113-Glu195 intermonomer ionic bond in F-actin stabilization and regulation by yeast formins Bni1p and Bnr1p

21 January 2018

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Mutant profilin suppresses mutant actin-dependent mitochondrial phenotype in Saccharomyces cerevisiae

21 January 2018

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Acceleration of yeast actin polymerization by yeast Arp2/3 complex does not require an Arp2/3-activating protein

21 January 2018

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Differential regulation of actin polymerization and structure by yeast formin isoforms

21 January 2018

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Actin constitution: guaranteeing the right to assemble

21 January 2018

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Actin nucleators in the nucleus: an emerging theme

21 January 2018

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Protein synthesis and actin heterogeneity in calf muscle cells in culture

21 January 2018

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Characterization of a novel ENU-generated myosin VI mutant mouse strain with congenital deafness and vestibular dysfunction

21 January 2018

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Nonspecific weak actomyosin interactions: relocation of charged residues in subdomain 1 of actin does not alter actomyosin function

21 January 2018

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Nucleotide effects on the structure and dynamics of actin

21 January 2018

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Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

21 January 2018

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Profilin-1 overexpression restores adherens junctions in MDA-MB-231 breast cancer cells in R-cadherin-dependent manner

21 January 2018

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Actin binding to WH2 domains regulates nuclear import of the multifunctional actin regulator JMY.

21 January 2018

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Mechanistic Differences in Actin Bundling Activity of Two Mammalian Formins, FRL1 and mDia2

21 January 2018

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Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy

21 January 2018

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Mutational analysis of Ser14 and Asp157 in the nucleotide-binding site of beta-actin

21 January 2018

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21 January 2018

7 January 2021

Mutational analysis of arginine 177 in the nucleotide binding site of β-actin

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Three-dimensional atomic model of F-actin decorated with Dictyostelium myosin S1

21 January 2018

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A test for intron function in the yeast actin gene

21 January 2018

1 reference

Cooperative effects of cofilin (ADF) on actin structure suggest allosteric mechanism of cofilin function

21 January 2018

1 reference

7 January 2021

Expression and function of alpha-smooth muscle actin during embryonic-stem-cell-derived cardiomyocyte differentiation

1 reference

7 January 2021

Kinetic studies on the effect of yeast cofilin on yeast actin polymerization

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7 January 2021

Fluorescence probing of yeast actin subdomain 3/4 hydrophobic loop 262-274. Actin-actin and actin-myosin interactions in actin filaments

1 reference

7 January 2021

Structural and functional reconstitution of thin filaments in skeletal muscle

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7 January 2021

Identification and characterization of multiple forms of actin

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7 January 2021

Contractile properties of thin (actin) filament-reconstituted muscle fibers

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7 January 2021

Polymerization and in vitro motility properties of yeast actin: a comparison with rabbit skeletal alpha-actin

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7 January 2021

Mutations in actin subdomain 3 that impair thin filament regulation by troponin and tropomyosin

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7 January 2021

Actin polymerization and ATP hydrolysis

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7 January 2021

Beryllium fluoride and phalloidin restore polymerizability of a mutant yeast actin (V266G,L267G) with severely decreased hydrophobicity in a subdomain 3/4 loop

1 reference

7 January 2021

The effects of severely decreased hydrophobicity in a subdomain 3/4 loop on the dynamics and stability of yeast G-actin

1 reference

7 January 2021

Role of the N-terminal negative charges of actin in force generation and cross-bridge kinetics in reconstituted bovine cardiac muscle fibres

1 reference

7 January 2021

High levels of profilin suppress the lethality caused by overproduction of actin in yeast cells

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7 January 2021

Effect of the substitution of muscle actin-specific subdomain 1 and 2 residues in yeast actin on actin function

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7 January 2021

A conformational change in F-actin when myosin binds: fluorescence resonance energy transfer detects an increase in the radial coordinate of Cys-374

1 reference

7 January 2021

Cofilin increases the torsional flexibility and dynamics of actin filaments

1 reference

7 January 2021

Cooperativity in F-actin: binding of gelsolin at the barbed end affects structure and dynamics of the whole filament

1 reference

7 January 2021

Identification of actin surface interacting with myosin during the actin-myosin sliding

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7 January 2021

Actin-fragmin interactions as revealed by chemical cross-linking

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7 January 2021

End-label fingerprintings show that the N- and C-termini of actin are in the contact site with gelsolin

1 reference

7 January 2021

Actin typing on total cellular extracts: a highly sensitive protein-chemical procedure able to distinguish different actins

1 reference

7 January 2021

Interaction of the gonococcal porin P.IB with G- and F-actin

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7 January 2021

Alpha-smooth muscle actin is transiently expressed in embryonic rat cardiac and skeletal muscles

1 reference

7 January 2021

Identifiers

DOI

10.1002/CM.21169

1 reference

30 August 2017

1 reference

PubMed ID

24574087