(Q36744184)

16 August 2017

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

1 reference

16 August 2017

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Becky M Miller

1

1 reference

16 August 2017

Kathleen M Trybus

series ordinal

2

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16 August 2017

language of work or name

English

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publication date

12 May 2008

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Journal of Biological Chemistry

16 August 2017

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16 August 2017

283

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16 August 2017

28

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16 August 2017

19379-19388

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describes a project that uses

16 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2443645/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes

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Nemaline myopathy caused by absence of alpha-skeletal muscle actin

29 September 2017

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Crystal structures of expressed non-polymerizable monomeric actin in the ADP and ATP states

29 September 2017

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Actin-targeting natural products: structures, properties and mechanisms of action

29 September 2017

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Skeletal muscle repair in a mouse model of nemaline myopathy

29 September 2017

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Expression of actin mutants to study their roles in cardiomyopathy

29 September 2017

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A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia

29 September 2017

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

29 September 2017

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When contractile proteins go bad: the sarcomere and skeletal muscle disease

29 September 2017

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Real-time measurements of actin filament polymerization by total internal reflection fluorescence microscopy

29 September 2017

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A method for rapidly screening functionality of actin mutants and tagged actins

29 September 2017

1 reference

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Actin-binding proteins--a unifying hypothesis

29 September 2017

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Congenital myopathies: diseases of the actin cytoskeleton.

29 September 2017

1 reference

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Expression of a nonpolymerizable actin mutant in Sf9 cells

29 September 2017

1 reference

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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

29 September 2017

1 reference

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Solution Properties of Tetramethylrhodamine-Modified G-Actin

29 September 2017

1 reference

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Solution Properties of TMR-Actin: When Biochemical and Crystal Data Agree

29 September 2017

1 reference

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NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY

29 September 2017

1 reference

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

29 September 2017

1 reference

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Production of human skeletal alpha-actin proteins by the baculovirus expression system

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

Crystal structure of monomeric actin in the ATP state. Structural basis of nucleotide-dependent actin dynamics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

Tobacco etch virus protease: mechanism of autolysis and rational design of stable mutants with wild-type catalytic proficiency

29 September 2017

1 reference

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

The crystal structure of uncomplexed actin in the ADP state

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

Histidine-tagged wild-type yeast actin: its properties and use in an approach for obtaining yeast actin mutants.

29 September 2017

1 reference

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Differential epitope tagging of actin in transformed Drosophila produces distinct effects on myofibril assembly and function of the indirect flight muscle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

A change in actin conformation associated with filament instability after Pi release.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

The structure of an open state of beta-actin at 2.65 A resolution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

Glycine 699 is pivotal for the motor activity of skeletal muscle myosin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

Nemaline myopathy rod bodies. Structure and composition

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

Atomic model of the actin filament

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

Atomic structure of the actin:DNase I complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

Systematic mutational analysis of the yeast ACT1 gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

Drosophila actin mutants and the study of myofibrillar assembly and function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

LIGHT AND ELECTRON MICROSCOPIC STUDIES OF "MYOGRANULES" IN A CHILD WITH HYPOTONIA AND MUSCLE WEAKNESS

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

Biochemical studies of myosin

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

Proteolytic removal of three C-terminal residues of actin alters the monomer-monomer interactions

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

Long-range conformational effects of proteolytic removal of the last three residues of actin

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

Characterisation of missense mutations in the Act88F gene of Drosophila melanogaster

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

Selective assay of monomeric and filamentous actin in cell extracts, using inhibition of deoxyribonuclease I.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations

28 June 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M801963200

Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M801963200

Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M801963200

A simple method for measuring the relative force exerted by myosin on actin filaments in the in vitro motility assay: evidence that tropomyosin and troponin increase force in single thin filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M801963200

Biochemical consequences of the cardiofunk (R177H) mutation in yeast actin

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M801963200

Actin cross-linking and inhibition of the actomyosin motor

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M801963200

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M801963200

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M801963200

Thermal unfolding of G-actin monitored with the DNase I-inhibition assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M801963200

Thermal unfolding of G-actin monitored with the DNase I-inhibition assay stabilities of actin isoforms

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443645

7 Preparation of myosin and its subfragments from rabbit skeletal muscle

4 December 2018

1 reference

12 December 2020

Microscopic analysis of polymerization dynamics with individual actin filaments

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the motor domain modulate myosin activity and myofibril organization

1 reference

12 December 2020

Localization of the tightly bound divalent-cation-dependent and nucleotide-dependent conformation changes in G-actin using limited proteolytic digestion

1 reference

12 December 2020

Experimental core-like lesions and nemaline rods. A correlative morphological and physiological study

1 reference

12 December 2020

Neostigmine myopathy is a calcium ion-mediated myopathy initially affecting the motor end-plate

1 reference

12 December 2020

Cardiac myosin isoforms from different species have unique enzymatic and mechanical properties

1 reference

12 December 2020

Purification of muscle actin

1 reference

12 December 2020

Identifiers

DOI

10.1074/JBC.M801963200

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

18477565

1 reference